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results.csv
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48 lines (48 loc) · 128 KB
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GENENAME,seqnames,start,end,width,strand,LOCATION,LOCSTART,LOCEND,QUERYID,TXID,CDSID,GENEID,PRECEDEID,FOLLOWID,CSQ,phenotype_description,strain_name,name_1006,goslim_goa_description,reactome,biogrid,rnacentral,rfam,transcript_appris,transcript_tsl,arrayexpress
Aff3,chr1,38561921,38561921,1,-,intron,65168,65168,2,119199,,,,,"C|intron_variant|MODIFIER|Aff3|ENSMUSG00000037138|Transcript|ENSMUST00000095027|protein_coding||1/21||||||||||-1||MGI|||4.100|",abnormal incisor morphology|abnormal snout morphology|abnormal tooth morphology|abnormal vertebral arch morphology|decreased circulating fructosamine level|decreased circulating serum albumin level|decreased grip strength|fusion of vertebral arches|increased circulating alkaline phosphatase level|increased circulating chloride level|vertebral transformation|abnormal craniofacial morphology|abnormal fibula morphology|abnormal intestine morphology|abnormal nervous system physiology|abnormal pelvic girdle bone morphology|abnormal tibia morphology|decreased corpus callosum size|decreased fetal size|decreased length of long bones|delayed bone ossification|enlarged lateral ventricles|polydactyly|prenatal lethality,C57BL/6N|"",nucleus|regulation of gene expression|cytosol|nuclear body|nucleoplasm|DNA binding|DNA-binding transcription factor activity|DNA-templated transcription|regulation of DNA-templated transcription|double-stranded DNA binding|embryonic hindlimb morphogenesis|super elongation complex|response to tumor necrosis factor,organelle|nucleus|cytosol|nucleoplasm|DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|anatomical structure development,"",,"",,principal4|""|alternative2,""|tsl3 (assigned to previous version 2)|tsl1 (assigned to previous version 13)|tsl5 (assigned to previous version 8)|tsl5 (assigned to previous version 13)|tsl3 (assigned to previous version 1),ENSMUSG00000037138
Aff3,chr1,38587802,38587802,1,-,intron,39287,39287,3,119199,,,,,"A|intron_variant|MODIFIER|Aff3|ENSMUSG00000037138|Transcript|ENSMUST00000095027|protein_coding||1/21||||||||||-1||MGI|||5.770|",abnormal incisor morphology|abnormal snout morphology|abnormal tooth morphology|abnormal vertebral arch morphology|decreased circulating fructosamine level|decreased circulating serum albumin level|decreased grip strength|fusion of vertebral arches|increased circulating alkaline phosphatase level|increased circulating chloride level|vertebral transformation|abnormal craniofacial morphology|abnormal fibula morphology|abnormal intestine morphology|abnormal nervous system physiology|abnormal pelvic girdle bone morphology|abnormal tibia morphology|decreased corpus callosum size|decreased fetal size|decreased length of long bones|delayed bone ossification|enlarged lateral ventricles|polydactyly|prenatal lethality,C57BL/6N|"",nucleus|regulation of gene expression|cytosol|nuclear body|nucleoplasm|DNA binding|DNA-binding transcription factor activity|DNA-templated transcription|regulation of DNA-templated transcription|double-stranded DNA binding|embryonic hindlimb morphogenesis|super elongation complex|response to tumor necrosis factor,organelle|nucleus|cytosol|nucleoplasm|DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|anatomical structure development,"",,"",,principal4|""|alternative2,""|tsl3 (assigned to previous version 2)|tsl1 (assigned to previous version 13)|tsl5 (assigned to previous version 8)|tsl5 (assigned to previous version 13)|tsl3 (assigned to previous version 1),ENSMUSG00000037138
Aff3,chr1,38420894,38420894,1,+,intron,205375,205375,1,3694,,100033459,,,"C|intron_variant|MODIFIER|Aff3|ENSMUSG00000037138|Transcript|ENSMUST00000095027|protein_coding||4/21||||||||||-1||MGI|||4.340|",abnormal incisor morphology|abnormal snout morphology|abnormal tooth morphology|abnormal vertebral arch morphology|decreased circulating fructosamine level|decreased circulating serum albumin level|decreased grip strength|fusion of vertebral arches|increased circulating alkaline phosphatase level|increased circulating chloride level|vertebral transformation|abnormal craniofacial morphology|abnormal fibula morphology|abnormal intestine morphology|abnormal nervous system physiology|abnormal pelvic girdle bone morphology|abnormal tibia morphology|decreased corpus callosum size|decreased fetal size|decreased length of long bones|delayed bone ossification|enlarged lateral ventricles|polydactyly|prenatal lethality,C57BL/6N|"",nucleus|regulation of gene expression|cytosol|nuclear body|nucleoplasm|DNA binding|DNA-binding transcription factor activity|DNA-templated transcription|regulation of DNA-templated transcription|double-stranded DNA binding|embryonic hindlimb morphogenesis|super elongation complex|response to tumor necrosis factor,organelle|nucleus|cytosol|nucleoplasm|DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|anatomical structure development,"",,"",,principal4|""|alternative2,""|tsl3 (assigned to previous version 2)|tsl1 (assigned to previous version 13)|tsl5 (assigned to previous version 8)|tsl5 (assigned to previous version 13)|tsl3 (assigned to previous version 1),ENSMUSG00000037138
Basp1,chr15,25410826,25410826,1,+,promoter,,,38,110567,,,,,"A|intron_variant|MODIFIER|Basp1|ENSMUSG00000045763|Transcript|ENSMUST00000058845|protein_coding||1/1||||||||||-1||MGI|||5.600|",abnormal Schwann cell morphology|abnormal axon extension|abnormal axon morphology|abnormal cerebral cortex morphology|abnormal hippocampus morphology|abnormal motor nerve collateral sprouting|abnormal neurite morphology|abnormal neuromuscular synapse morphology|abnormal neuron morphology|decreased body weight|enlarged brain ventricles|hyperactivity|postnatal lethality incomplete penetrance,"",nucleus|cytoplasm|membrane|plasma membrane|growth cone|cell projection|cell junction|protein binding|nuclear speck|negative regulation of DNA-templated transcription|chromatin|transcription corepressor activity|protein domain specific binding|PML body|transcription cis-regulatory region binding|nuclear matrix|podocyte differentiation|COP9 signalosome,organelle|nucleus|plasma membrane|nucleoplasm|DNA-templated transcription|regulation of DNA-templated transcription|chromosome|transcription regulator activity|DNA binding|anatomical structure development|cell differentiation,R-MMU-194315|R-MMU-9012999|R-MMU-9716542|R-MMU-162582|""|R-MMU-9035034,213993|,"",,""|principal1,""|tsl1 (assigned to previous version 7),ENSMUSG00000045763
C2cd3,chr7,100451768,100451768,1,-,intron,22940,22940,21,49245,,,,,"A|missense_variant|MODERATE|C2cd3|ENSMUSG00000047248|Transcript|ENSMUST00000051777|protein_coding|30/33||||6009|5800|1934|Q/K|Caa/Aaa|||1||MGI||deleterious(0.01)|0.433|",abnormal embryo size|abnormal skin morphology|abnormal uterus morphology|embryonic growth retardation|embryonic lethality prior to tooth bud stage|enlarged urinary bladder|hyperactivity|preweaning lethality complete penetrance|abnormal cranial flexure morphology|abnormal direction of heart looping|abnormal dorsal-ventral axis patterning|abnormal floor plate morphology|abnormal left-right axis patterning|abnormal rostral-caudal body axis extension|absent embryonic cilia|embryonic lethality during organogenesis complete penetrance|exencephaly|pericardial edema|polydactyly,C57BL/6NCrl|"",in utero embryonic development|protein binding|cytoplasm|cell projection organization|cytoskeleton|cell projection|centriolar satellite|cilium|brain development|centriole|protein processing|centrosome|protein localization to centrosome|cilium assembly|ciliary basal body|neural tube development|embryonic digit morphogenesis|non-motile cilium assembly|pattern specification process|regulation of smoothened signaling pathway|heart looping|embryonic limb morphogenesis|regulation of proteolysis|neural plate axis specification|centriole elongation,anatomical structure development|organelle|cytoskeleton|microtubule organizing center|cilium|protein maturation|cilium organization|signaling|cytoskeleton organization,R-MMU-1852241|R-MMU-5620912|R-MMU-5617833|"",234966|,"",,""|alternative2|principal4,tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 8)|tsl5 (assigned to previous version 1)|tsl5 (assigned to previous version 14)|tslNA (assigned to previous version 1)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 10)|tsl1 (assigned to previous version 7)|tsl1 (assigned to previous version 8)|tsl2 (assigned to previous version 1),ENSMUSG00000047248
Camta1,chr4,151537841,151537841,1,+,promoter,,,13,29990,,230935,,,"T|intron_variant|MODIFIER|Camta1|ENSMUSG00000014592|Transcript|ENSMUST00000049790|protein_coding||4/23||||||||||-1||MGI|||5.410|",abnormal posture|ataxia|decreased body size|postnatal lethality complete penetrance,"",protein binding|regulation of transcription by RNA polymerase II|cytosol|nucleus|sequence-specific DNA binding|nucleolus|transcription coregulator activity|regulation of macromolecule metabolic process|cytoplasm|DNA-templated transcription|DNA binding|positive regulation of transcription by RNA polymerase II|neuromuscular process controlling balance|regulation of nitrogen compound metabolic process|positive regulation of calcineurin-NFAT signaling cascade|regulation of primary metabolic process|double-stranded DNA binding|positive regulation of protein dephosphorylation,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|cytosol|transcription regulator activity|protein modification process|nervous system process|signaling|nucleolus,"",,"",,""|principal4|alternative2,tsl1 (assigned to previous version 7)|tsl5 (assigned to previous version 8)|tsl1 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tsl5 (assigned to previous version 13)|tsl3 (assigned to previous version 1)|tsl2 (assigned to previous version 1)|tsl1 (assigned to previous version 2),ENSMUSG00000014592
Camta1,chr4,151549275,151549275,1,+,promoter,,,14,29990,,230935,,,"T|intron_variant|MODIFIER|Camta1|ENSMUSG00000014592|Transcript|ENSMUST00000049790|protein_coding||4/23||||||||||-1||MGI|||6.960|",abnormal posture|ataxia|decreased body size|postnatal lethality complete penetrance,"",protein binding|regulation of transcription by RNA polymerase II|cytosol|nucleus|sequence-specific DNA binding|nucleolus|transcription coregulator activity|regulation of macromolecule metabolic process|cytoplasm|DNA-templated transcription|DNA binding|positive regulation of transcription by RNA polymerase II|neuromuscular process controlling balance|regulation of nitrogen compound metabolic process|positive regulation of calcineurin-NFAT signaling cascade|regulation of primary metabolic process|double-stranded DNA binding|positive regulation of protein dephosphorylation,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|cytosol|transcription regulator activity|protein modification process|nervous system process|signaling|nucleolus,"",,"",,""|principal4|alternative2,tsl1 (assigned to previous version 7)|tsl5 (assigned to previous version 8)|tsl1 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tsl5 (assigned to previous version 13)|tsl3 (assigned to previous version 1)|tsl2 (assigned to previous version 1)|tsl1 (assigned to previous version 2),ENSMUSG00000014592
Cep152,chr2,125566233,125566233,1,+,promoter,,,6,12191,,58521,,,"C|missense_variant|MODERATE|Cep152|ENSMUSG00000068394|Transcript|ENSMUST00000089776|protein_coding|27/28||||4434|4189|1397|R/G|Cgg/Ggg|||-1||MGI||deleterious(0.03)|-2.050|",abnormal centrosome morphology|abnormal embryonic neuroepithelium morphology|decreased embryonic neuroepithelium primary cilium number|increased apoptosis,"",microtubule organizing center|centriole replication|de novo centriole assembly involved in multi-ciliated epithelial cell differentiation|deuterosome|nucleoplasm|cytoplasm|cell projection organization|protein binding|cytoskeleton|centriole|protein kinase binding|centrosome|pericentriolar material|procentriole|procentriole replication complex|centrosome duplication,organelle|cytoskeleton|microtubule organizing center|cytoskeleton organization|anatomical structure development|cell differentiation|nucleus|nucleoplasm,R-MMU-2565942|R-MMU-8854518|R-MMU-380259|R-MMU-5617833|R-MMU-380287|R-MMU-380320|R-MMU-380284|R-MMU-68886|R-MMU-69278|R-MMU-1852241|R-MMU-68877|R-MMU-1640170|R-MMU-380270|R-MMU-69275|R-MMU-5620912|R-MMU-453274,221186,"",,principal1,tsl1 (assigned to previous version 2),ENSMUSG00000068394
Cep250,chr2,155969338,155969338,1,+,promoter,,,7,13099,,16328,,,"T|missense_variant|MODERATE|Cep250|ENSMUSG00000038241|Transcript|ENSMUST00000109619|protein_coding|10/33||||1306|1106|369|S/L|tCg/tTg|||1||MGI||deleterious(0)|0.998|",abnormal auditory brainstem response|absent pinna reflex|increased total body fat amount|male infertility|abnormal electroretinogram waveform feature|abnormal retina blood vessel morphology|abnormal retina outer nuclear layer morphology|decreased a wave amplitude|decreased b wave amplitude|decreased total retina thickness|retina degeneration|retina photoreceptor degeneration|thin retina outer nuclear layer,C57BL/6N|"",cytoplasm|protein-containing complex|cell projection organization|cytoskeleton|cell projection|cilium|cell cycle|perinuclear region of cytoplasm|protein localization|centriole|protein kinase binding|protein localization to organelle|protein domain specific binding|centrosome|mitotic cell cycle|protein localization to centrosome|protein C-terminus binding|cilium assembly|ciliary basal body|spindle pole centrosome|centriole-centriole cohesion|photoreceptor inner segment|non-motile cilium assembly|photoreceptor outer segment|detection of light stimulus involved in visual perception|regulation of centriole-centriole cohesion|positive regulation of protein localization to centrosome,organelle|cytoskeleton|cilium|microtubule organizing center|mitotic cell cycle|cilium organization|cytoskeleton organization|nervous system process,R-MMU-69275|R-MMU-453274|R-MMU-2565942|R-MMU-380259|R-MMU-69278|R-MMU-380284|""|R-MMU-5617833|R-MMU-8854518|R-MMU-68877|R-MMU-1852241|R-MMU-68886|R-MMU-380270|R-MMU-5620912|R-MMU-380287|R-MMU-380320|R-MMU-1640170,200766|,"",,alternative2|""|principal2,tsl5 (assigned to previous version 13)|tsl1 (assigned to previous version 7)|tsl5 (assigned to previous version 10)|tsl5 (assigned to previous version 8)|tsl3 (assigned to previous version 7)|tsl5 (assigned to previous version 1)|tsl1 (assigned to previous version 1)|tsl3 (assigned to previous version 1)|tsl2 (assigned to previous version 7),ENSMUSG00000038241
Cep250,chr2,155990950,155990950,1,-,intron,16198,16198,8,130536,,338403,,,"A|missense_variant|MODERATE|Cep250|ENSMUSG00000038241|Transcript|ENSMUST00000109619|protein_coding|28/33||||4994|4794|1598|M/I|atG/atA|||1||MGI||deleterious(0.04)|-0.044|",abnormal auditory brainstem response|absent pinna reflex|increased total body fat amount|male infertility|abnormal electroretinogram waveform feature|abnormal retina blood vessel morphology|abnormal retina outer nuclear layer morphology|decreased a wave amplitude|decreased b wave amplitude|decreased total retina thickness|retina degeneration|retina photoreceptor degeneration|thin retina outer nuclear layer,C57BL/6N|"",cytoplasm|protein-containing complex|cell projection organization|cytoskeleton|cell projection|cilium|cell cycle|perinuclear region of cytoplasm|protein localization|centriole|protein kinase binding|protein localization to organelle|protein domain specific binding|centrosome|mitotic cell cycle|protein localization to centrosome|protein C-terminus binding|cilium assembly|ciliary basal body|spindle pole centrosome|centriole-centriole cohesion|photoreceptor inner segment|non-motile cilium assembly|photoreceptor outer segment|detection of light stimulus involved in visual perception|regulation of centriole-centriole cohesion|positive regulation of protein localization to centrosome,organelle|cytoskeleton|cilium|microtubule organizing center|mitotic cell cycle|cilium organization|cytoskeleton organization|nervous system process,R-MMU-69275|R-MMU-453274|R-MMU-2565942|R-MMU-380259|R-MMU-69278|R-MMU-380284|""|R-MMU-5617833|R-MMU-8854518|R-MMU-68877|R-MMU-1852241|R-MMU-68886|R-MMU-380270|R-MMU-5620912|R-MMU-380287|R-MMU-380320|R-MMU-1640170,200766|,"",,alternative2|""|principal2,tsl5 (assigned to previous version 13)|tsl1 (assigned to previous version 7)|tsl5 (assigned to previous version 10)|tsl5 (assigned to previous version 8)|tsl3 (assigned to previous version 7)|tsl5 (assigned to previous version 1)|tsl1 (assigned to previous version 1)|tsl3 (assigned to previous version 1)|tsl2 (assigned to previous version 7),ENSMUSG00000038241
Dnah6,chr6,73103254,73103254,1,+,promoter,,,18,45015,,,,,"A|missense_variant|MODERATE|Dnah6|ENSMUSG00000052861|Transcript|ENSMUST00000064948|protein_coding|43/77||||7021|6940|2314|L/F|Ctt/Ttt|||-1||MGI||deleterious(0.05)|-3.640|",abnormal kidney morphology|abnormal uterus morphology|enlarged heart|hydrometra,C57BL/6NCrl|"",ATP binding|microtubule-based movement|dynein complex|ATP hydrolysis activity|microtubule motor activity|dynein intermediate chain binding|dynein light intermediate chain binding|cilium movement|inner dynein arm|cytoskeleton|cell projection|cilium|microtubule|axoneme|minus-end-directed microtubule motor activity|cilium-dependent cell motility|axonemal dynein complex|cytoplasm|nucleotide binding,organelle|catalytic activity|hydrolase activity|ATP-dependent activity|cytoskeletal motor activity|microtubule-based movement|cell motility|cilium|cytoskeleton,"",,"",,""|principal1,tsl5 (assigned to previous version 7)|tsl5 (assigned to previous version 12)|tsl5 (assigned to previous version 1)|tsl1 (assigned to previous version 2),ENSMUSG00000052861
Drc3,chr11,60377867,60377867,1,+,coding,882,882,33,85956,149124|149123,74665,,,"T|missense_variant|MODERATE|Drc3|ENSMUSG00000056598|Transcript|ENSMUST00000108723|protein_coding|9/14||||1124|882|294|Q/H|caG/caT|||1||MGI||deleterious(0)|1.380|","","",protein binding|molecular_function|biological_process|cytoplasm|cytoskeleton|cell projection|cilium|motile cilium|axoneme|sperm flagellum,organelle|cytoskeleton|cilium,"",216923|,"",,alternative1|""|principal4,tsl5 (assigned to previous version 4)|tsl3 (assigned to previous version 7)|tsl1 (assigned to previous version 12)|tsl1 (assigned to previous version 8),ENSMUSG00000056598
Evc2,chr5,37357438,37357438,1,+,coding,639,639,15,35254,63244,68525,,,"G|missense_variant|MODERATE|Evc2|ENSMUSG00000050248|Transcript|ENSMUST00000056365|protein_coding|6/20||||688|639|213|I/M|atC/atG|||1||MGI||deleterious(0.01)|-0.429|",abnormal cecum morphology|abnormal gallbladder morphology|abnormal heart morphology|abnormal skin morphology|abnormal spleen morphology|abnormal uterus morphology|absent teeth|decreased body length|decreased grip strength|decreased prepulse inhibition|enlarged heart|hydrometra|increased circulating bilirubin level|preweaning lethality incomplete penetrance|small spleen|abnormal basicranium morphology|abnormal chondrocyte physiology|abnormal long bone epiphyseal plate morphology|abnormal long bone epiphyseal plate proliferative zone|decreased body weight|decreased bone mineral content|decreased trabecular bone volume|decreased width of hypertrophic chondrocyte zone|disproportionate dwarf|impaired osteoblast differentiation|microcephaly|no abnormal phenotype detected|perinatal lethality complete penetrance|short femur|short fibula|short humerus|short limbs|short radius|short ribs|short tibia|short ulna|slow postnatal weight gain|small cranium|small upper incisors,C57BL/6NCrl|"",smoothened signaling pathway|nucleus|cytoplasm|membrane|plasma membrane|cytoskeleton|cell projection|cilium|protein binding|plasma membrane protein complex|ciliary membrane,signaling|organelle|nucleus|plasma membrane|cytoskeleton|cilium,R-MMU-5632684|R-MMU-5358351|R-MMU-162582,,"",,""|principal1,tsl3 (assigned to previous version 1)|tsl1 (assigned to previous version 4)|tsl1 (assigned to previous version 8),ENSMUSG00000050248
Ext1,chr15,53079870,53079870,1,+,promoter,,,39,110941,,,,,"G|intron_variant|MODIFIER|Ext1|ENSMUSG00000061731|Transcript|ENSMUST00000077273|protein_coding||8/10||||||||||-1||MGI|||4.200|",abnormal developmental patterning|abnormal embryonic tissue morphology|abnormal extraembryonic tissue morphology|abnormal eye morphology|abnormal limb morphology|abnormal long bone epiphyseal plate proliferative zone|abnormal skeleton morphology|absent mesoderm|decreased embryo size|disorganized embryonic tissue|embryonic lethality|embryonic lethality between implantation and somite formation complete penetrance|failure of primitive streak formation|failure to gastrulate|increased osteochondroma incidence|no abnormal phenotype detected|premature death|prenatal lethality complete penetrance,"",integral component of membrane|glycosyltransferase activity|endoplasmic reticulum|protein glycosylation|glucuronosyltransferase activity|heparan sulfate proteoglycan biosynthetic process|gene expression|canonical Wnt signaling pathway|hematopoietic stem cell differentiation|multicellular organism growth|BMP signaling pathway|cell morphogenesis|regulation of blood pressure|ossification|cell population proliferation|cellular response to virus|response to virus|glandular epithelial cell differentiation|social behavior|"synaptic transmission, glutamatergic"|synapse|membrane|transferase activity|Golgi membrane|Golgi apparatus|metal ion binding|endoplasmic reticulum membrane|protein homodimerization activity|brain development|endoderm development|sulfation|protein heterodimerization activity|protein catabolic process|protein-containing complex assembly|hematopoietic progenitor cell differentiation|optic nerve development|bone resorption|hematopoietic stem cell homeostasis|collagen fibril organization|chondrocyte differentiation|neuron projection development|smoothened signaling pathway|cranial skeletal system development|cell adhesion|cell adhesion mediated by integrin|blood vessel remodeling|olfactory bulb development|epithelium development|fibroblast growth factor receptor signaling pathway|cellular response to fibroblast growth factor stimulus|tight junction organization|gastrulation|cell surface receptor signaling pathway|acetylglucosaminyltransferase activity|sodium ion homeostasis|stem cell division|vocalization behavior|cell fate commitment|ossification involved in bone maturation|chondrocyte proliferation|antigen processing and presentation|bone morphogenesis|dendritic cell migration|heart contraction|epithelial tube branching involved in lung morphogenesis|cellular response to BMP stimulus|axon guidance|hair cycle process|vasodilation|heparin biosynthetic process|motor behavior|wound healing|TNFSF11-mediated signaling pathway|glycosaminoglycan biosynthetic process|hair follicle morphogenesis|endochondral ossification|basement membrane organization|proteoglycan biosynthetic process|leukocyte tethering or rolling|limb joint morphogenesis|endochondral bone morphogenesis|glomerular basement membrane development|cartilage development involved in endochondral bone morphogenesis|mesoderm development|vacuole organization|response to light intensity|fear response|mesenchyme development|embryonic morphogenesis|neural crest cell differentiation|podocyte differentiation|multicellular organismal water homeostasis|developmental growth involved in morphogenesis|sebaceous gland development|response to growth factor|endochondral bone growth|mesenchymal cell differentiation involved in bone development|heparin metabolic process|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|"heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process"|cellular polysaccharide biosynthetic process|fluid transport|stomach development|hypersensitivity|heart field specification|chondrocyte hypertrophy|cellular component organization|chondroitin sulfate metabolic process|lymphocyte adhesion to endothelial cell of high endothelial venule|smoothened signaling pathway involved in lung development|sweat gland development|perichondral bone morphogenesis|dendrite self-avoidance|response to heparin|embryonic skeletal joint development|lymphocyte migration into lymphoid organs|hematopoietic stem cell migration to bone marrow|bone growth|response to leukemia inhibitory factor,catalytic activity|transferase activity|organelle|endoplasmic reticulum|carbohydrate derivative metabolic process|protein modification process|protein glycosylation|signaling|immune system process|anatomical structure development|cell differentiation|circulatory system process|Golgi apparatus|sulfur compound metabolic process|protein catabolic process|protein-containing complex assembly|extracellular matrix organization|cell adhesion|cell junction organization|metal ion homeostasis|cell motility|wound healing|carbohydrate metabolic process|inflammatory response,R-MMU-71387|R-MMU-1630316|R-MMU-1430728|R-MMU-2022928|""|R-MMU-1638091,199556|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000061731
Ext1,chr15,53109767,53109767,1,+,promoter,,,40,110941,,,,,"G|intron_variant|MODIFIER|Ext1|ENSMUSG00000061731|Transcript|ENSMUST00000077273|protein_coding||1/10||||||||||-1||MGI|||4.040|",abnormal developmental patterning|abnormal embryonic tissue morphology|abnormal extraembryonic tissue morphology|abnormal eye morphology|abnormal limb morphology|abnormal long bone epiphyseal plate proliferative zone|abnormal skeleton morphology|absent mesoderm|decreased embryo size|disorganized embryonic tissue|embryonic lethality|embryonic lethality between implantation and somite formation complete penetrance|failure of primitive streak formation|failure to gastrulate|increased osteochondroma incidence|no abnormal phenotype detected|premature death|prenatal lethality complete penetrance,"",integral component of membrane|glycosyltransferase activity|endoplasmic reticulum|protein glycosylation|glucuronosyltransferase activity|heparan sulfate proteoglycan biosynthetic process|gene expression|canonical Wnt signaling pathway|hematopoietic stem cell differentiation|multicellular organism growth|BMP signaling pathway|cell morphogenesis|regulation of blood pressure|ossification|cell population proliferation|cellular response to virus|response to virus|glandular epithelial cell differentiation|social behavior|"synaptic transmission, glutamatergic"|synapse|membrane|transferase activity|Golgi membrane|Golgi apparatus|metal ion binding|endoplasmic reticulum membrane|protein homodimerization activity|brain development|endoderm development|sulfation|protein heterodimerization activity|protein catabolic process|protein-containing complex assembly|hematopoietic progenitor cell differentiation|optic nerve development|bone resorption|hematopoietic stem cell homeostasis|collagen fibril organization|chondrocyte differentiation|neuron projection development|smoothened signaling pathway|cranial skeletal system development|cell adhesion|cell adhesion mediated by integrin|blood vessel remodeling|olfactory bulb development|epithelium development|fibroblast growth factor receptor signaling pathway|cellular response to fibroblast growth factor stimulus|tight junction organization|gastrulation|cell surface receptor signaling pathway|acetylglucosaminyltransferase activity|sodium ion homeostasis|stem cell division|vocalization behavior|cell fate commitment|ossification involved in bone maturation|chondrocyte proliferation|antigen processing and presentation|bone morphogenesis|dendritic cell migration|heart contraction|epithelial tube branching involved in lung morphogenesis|cellular response to BMP stimulus|axon guidance|hair cycle process|vasodilation|heparin biosynthetic process|motor behavior|wound healing|TNFSF11-mediated signaling pathway|glycosaminoglycan biosynthetic process|hair follicle morphogenesis|endochondral ossification|basement membrane organization|proteoglycan biosynthetic process|leukocyte tethering or rolling|limb joint morphogenesis|endochondral bone morphogenesis|glomerular basement membrane development|cartilage development involved in endochondral bone morphogenesis|mesoderm development|vacuole organization|response to light intensity|fear response|mesenchyme development|embryonic morphogenesis|neural crest cell differentiation|podocyte differentiation|multicellular organismal water homeostasis|developmental growth involved in morphogenesis|sebaceous gland development|response to growth factor|endochondral bone growth|mesenchymal cell differentiation involved in bone development|heparin metabolic process|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|"heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process"|cellular polysaccharide biosynthetic process|fluid transport|stomach development|hypersensitivity|heart field specification|chondrocyte hypertrophy|cellular component organization|chondroitin sulfate metabolic process|lymphocyte adhesion to endothelial cell of high endothelial venule|smoothened signaling pathway involved in lung development|sweat gland development|perichondral bone morphogenesis|dendrite self-avoidance|response to heparin|embryonic skeletal joint development|lymphocyte migration into lymphoid organs|hematopoietic stem cell migration to bone marrow|bone growth|response to leukemia inhibitory factor,catalytic activity|transferase activity|organelle|endoplasmic reticulum|carbohydrate derivative metabolic process|protein modification process|protein glycosylation|signaling|immune system process|anatomical structure development|cell differentiation|circulatory system process|Golgi apparatus|sulfur compound metabolic process|protein catabolic process|protein-containing complex assembly|extracellular matrix organization|cell adhesion|cell junction organization|metal ion homeostasis|cell motility|wound healing|carbohydrate metabolic process|inflammatory response,R-MMU-71387|R-MMU-1630316|R-MMU-1430728|R-MMU-2022928|""|R-MMU-1638091,199556|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000061731
Ext1,chr15,53121767,53121767,1,+,promoter,,,41,110941,,,,,"C|intron_variant|MODIFIER|Ext1|ENSMUSG00000061731|Transcript|ENSMUST00000077273|protein_coding||1/10||||||||||-1||MGI|||4.340|",abnormal developmental patterning|abnormal embryonic tissue morphology|abnormal extraembryonic tissue morphology|abnormal eye morphology|abnormal limb morphology|abnormal long bone epiphyseal plate proliferative zone|abnormal skeleton morphology|absent mesoderm|decreased embryo size|disorganized embryonic tissue|embryonic lethality|embryonic lethality between implantation and somite formation complete penetrance|failure of primitive streak formation|failure to gastrulate|increased osteochondroma incidence|no abnormal phenotype detected|premature death|prenatal lethality complete penetrance,"",integral component of membrane|glycosyltransferase activity|endoplasmic reticulum|protein glycosylation|glucuronosyltransferase activity|heparan sulfate proteoglycan biosynthetic process|gene expression|canonical Wnt signaling pathway|hematopoietic stem cell differentiation|multicellular organism growth|BMP signaling pathway|cell morphogenesis|regulation of blood pressure|ossification|cell population proliferation|cellular response to virus|response to virus|glandular epithelial cell differentiation|social behavior|"synaptic transmission, glutamatergic"|synapse|membrane|transferase activity|Golgi membrane|Golgi apparatus|metal ion binding|endoplasmic reticulum membrane|protein homodimerization activity|brain development|endoderm development|sulfation|protein heterodimerization activity|protein catabolic process|protein-containing complex assembly|hematopoietic progenitor cell differentiation|optic nerve development|bone resorption|hematopoietic stem cell homeostasis|collagen fibril organization|chondrocyte differentiation|neuron projection development|smoothened signaling pathway|cranial skeletal system development|cell adhesion|cell adhesion mediated by integrin|blood vessel remodeling|olfactory bulb development|epithelium development|fibroblast growth factor receptor signaling pathway|cellular response to fibroblast growth factor stimulus|tight junction organization|gastrulation|cell surface receptor signaling pathway|acetylglucosaminyltransferase activity|sodium ion homeostasis|stem cell division|vocalization behavior|cell fate commitment|ossification involved in bone maturation|chondrocyte proliferation|antigen processing and presentation|bone morphogenesis|dendritic cell migration|heart contraction|epithelial tube branching involved in lung morphogenesis|cellular response to BMP stimulus|axon guidance|hair cycle process|vasodilation|heparin biosynthetic process|motor behavior|wound healing|TNFSF11-mediated signaling pathway|glycosaminoglycan biosynthetic process|hair follicle morphogenesis|endochondral ossification|basement membrane organization|proteoglycan biosynthetic process|leukocyte tethering or rolling|limb joint morphogenesis|endochondral bone morphogenesis|glomerular basement membrane development|cartilage development involved in endochondral bone morphogenesis|mesoderm development|vacuole organization|response to light intensity|fear response|mesenchyme development|embryonic morphogenesis|neural crest cell differentiation|podocyte differentiation|multicellular organismal water homeostasis|developmental growth involved in morphogenesis|sebaceous gland development|response to growth factor|endochondral bone growth|mesenchymal cell differentiation involved in bone development|heparin metabolic process|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|"heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process"|cellular polysaccharide biosynthetic process|fluid transport|stomach development|hypersensitivity|heart field specification|chondrocyte hypertrophy|cellular component organization|chondroitin sulfate metabolic process|lymphocyte adhesion to endothelial cell of high endothelial venule|smoothened signaling pathway involved in lung development|sweat gland development|perichondral bone morphogenesis|dendrite self-avoidance|response to heparin|embryonic skeletal joint development|lymphocyte migration into lymphoid organs|hematopoietic stem cell migration to bone marrow|bone growth|response to leukemia inhibitory factor,catalytic activity|transferase activity|organelle|endoplasmic reticulum|carbohydrate derivative metabolic process|protein modification process|protein glycosylation|signaling|immune system process|anatomical structure development|cell differentiation|circulatory system process|Golgi apparatus|sulfur compound metabolic process|protein catabolic process|protein-containing complex assembly|extracellular matrix organization|cell adhesion|cell junction organization|metal ion homeostasis|cell motility|wound healing|carbohydrate metabolic process|inflammatory response,R-MMU-71387|R-MMU-1630316|R-MMU-1430728|R-MMU-2022928|""|R-MMU-1638091,199556|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000061731
Ext1,chr15,53130468,53130468,1,+,promoter,,,42,110941,,,,,"T|intron_variant|MODIFIER|Ext1|ENSMUSG00000061731|Transcript|ENSMUST00000077273|protein_coding||1/10||||||||||-1||MGI|||4.130|",abnormal developmental patterning|abnormal embryonic tissue morphology|abnormal extraembryonic tissue morphology|abnormal eye morphology|abnormal limb morphology|abnormal long bone epiphyseal plate proliferative zone|abnormal skeleton morphology|absent mesoderm|decreased embryo size|disorganized embryonic tissue|embryonic lethality|embryonic lethality between implantation and somite formation complete penetrance|failure of primitive streak formation|failure to gastrulate|increased osteochondroma incidence|no abnormal phenotype detected|premature death|prenatal lethality complete penetrance,"",integral component of membrane|glycosyltransferase activity|endoplasmic reticulum|protein glycosylation|glucuronosyltransferase activity|heparan sulfate proteoglycan biosynthetic process|gene expression|canonical Wnt signaling pathway|hematopoietic stem cell differentiation|multicellular organism growth|BMP signaling pathway|cell morphogenesis|regulation of blood pressure|ossification|cell population proliferation|cellular response to virus|response to virus|glandular epithelial cell differentiation|social behavior|"synaptic transmission, glutamatergic"|synapse|membrane|transferase activity|Golgi membrane|Golgi apparatus|metal ion binding|endoplasmic reticulum membrane|protein homodimerization activity|brain development|endoderm development|sulfation|protein heterodimerization activity|protein catabolic process|protein-containing complex assembly|hematopoietic progenitor cell differentiation|optic nerve development|bone resorption|hematopoietic stem cell homeostasis|collagen fibril organization|chondrocyte differentiation|neuron projection development|smoothened signaling pathway|cranial skeletal system development|cell adhesion|cell adhesion mediated by integrin|blood vessel remodeling|olfactory bulb development|epithelium development|fibroblast growth factor receptor signaling pathway|cellular response to fibroblast growth factor stimulus|tight junction organization|gastrulation|cell surface receptor signaling pathway|acetylglucosaminyltransferase activity|sodium ion homeostasis|stem cell division|vocalization behavior|cell fate commitment|ossification involved in bone maturation|chondrocyte proliferation|antigen processing and presentation|bone morphogenesis|dendritic cell migration|heart contraction|epithelial tube branching involved in lung morphogenesis|cellular response to BMP stimulus|axon guidance|hair cycle process|vasodilation|heparin biosynthetic process|motor behavior|wound healing|TNFSF11-mediated signaling pathway|glycosaminoglycan biosynthetic process|hair follicle morphogenesis|endochondral ossification|basement membrane organization|proteoglycan biosynthetic process|leukocyte tethering or rolling|limb joint morphogenesis|endochondral bone morphogenesis|glomerular basement membrane development|cartilage development involved in endochondral bone morphogenesis|mesoderm development|vacuole organization|response to light intensity|fear response|mesenchyme development|embryonic morphogenesis|neural crest cell differentiation|podocyte differentiation|multicellular organismal water homeostasis|developmental growth involved in morphogenesis|sebaceous gland development|response to growth factor|endochondral bone growth|mesenchymal cell differentiation involved in bone development|heparin metabolic process|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|"heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process"|cellular polysaccharide biosynthetic process|fluid transport|stomach development|hypersensitivity|heart field specification|chondrocyte hypertrophy|cellular component organization|chondroitin sulfate metabolic process|lymphocyte adhesion to endothelial cell of high endothelial venule|smoothened signaling pathway involved in lung development|sweat gland development|perichondral bone morphogenesis|dendrite self-avoidance|response to heparin|embryonic skeletal joint development|lymphocyte migration into lymphoid organs|hematopoietic stem cell migration to bone marrow|bone growth|response to leukemia inhibitory factor,catalytic activity|transferase activity|organelle|endoplasmic reticulum|carbohydrate derivative metabolic process|protein modification process|protein glycosylation|signaling|immune system process|anatomical structure development|cell differentiation|circulatory system process|Golgi apparatus|sulfur compound metabolic process|protein catabolic process|protein-containing complex assembly|extracellular matrix organization|cell adhesion|cell junction organization|metal ion homeostasis|cell motility|wound healing|carbohydrate metabolic process|inflammatory response,R-MMU-71387|R-MMU-1630316|R-MMU-1430728|R-MMU-2022928|""|R-MMU-1638091,199556|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000061731
Ext1,chr15,53135791,53135791,1,+,promoter,,,43,110941,,,,,"C|intron_variant|MODIFIER|Ext1|ENSMUSG00000061731|Transcript|ENSMUST00000077273|protein_coding||1/10||||||||||-1||MGI|||6.070|",abnormal developmental patterning|abnormal embryonic tissue morphology|abnormal extraembryonic tissue morphology|abnormal eye morphology|abnormal limb morphology|abnormal long bone epiphyseal plate proliferative zone|abnormal skeleton morphology|absent mesoderm|decreased embryo size|disorganized embryonic tissue|embryonic lethality|embryonic lethality between implantation and somite formation complete penetrance|failure of primitive streak formation|failure to gastrulate|increased osteochondroma incidence|no abnormal phenotype detected|premature death|prenatal lethality complete penetrance,"",integral component of membrane|glycosyltransferase activity|endoplasmic reticulum|protein glycosylation|glucuronosyltransferase activity|heparan sulfate proteoglycan biosynthetic process|gene expression|canonical Wnt signaling pathway|hematopoietic stem cell differentiation|multicellular organism growth|BMP signaling pathway|cell morphogenesis|regulation of blood pressure|ossification|cell population proliferation|cellular response to virus|response to virus|glandular epithelial cell differentiation|social behavior|"synaptic transmission, glutamatergic"|synapse|membrane|transferase activity|Golgi membrane|Golgi apparatus|metal ion binding|endoplasmic reticulum membrane|protein homodimerization activity|brain development|endoderm development|sulfation|protein heterodimerization activity|protein catabolic process|protein-containing complex assembly|hematopoietic progenitor cell differentiation|optic nerve development|bone resorption|hematopoietic stem cell homeostasis|collagen fibril organization|chondrocyte differentiation|neuron projection development|smoothened signaling pathway|cranial skeletal system development|cell adhesion|cell adhesion mediated by integrin|blood vessel remodeling|olfactory bulb development|epithelium development|fibroblast growth factor receptor signaling pathway|cellular response to fibroblast growth factor stimulus|tight junction organization|gastrulation|cell surface receptor signaling pathway|acetylglucosaminyltransferase activity|sodium ion homeostasis|stem cell division|vocalization behavior|cell fate commitment|ossification involved in bone maturation|chondrocyte proliferation|antigen processing and presentation|bone morphogenesis|dendritic cell migration|heart contraction|epithelial tube branching involved in lung morphogenesis|cellular response to BMP stimulus|axon guidance|hair cycle process|vasodilation|heparin biosynthetic process|motor behavior|wound healing|TNFSF11-mediated signaling pathway|glycosaminoglycan biosynthetic process|hair follicle morphogenesis|endochondral ossification|basement membrane organization|proteoglycan biosynthetic process|leukocyte tethering or rolling|limb joint morphogenesis|endochondral bone morphogenesis|glomerular basement membrane development|cartilage development involved in endochondral bone morphogenesis|mesoderm development|vacuole organization|response to light intensity|fear response|mesenchyme development|embryonic morphogenesis|neural crest cell differentiation|podocyte differentiation|multicellular organismal water homeostasis|developmental growth involved in morphogenesis|sebaceous gland development|response to growth factor|endochondral bone growth|mesenchymal cell differentiation involved in bone development|heparin metabolic process|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|"heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process"|cellular polysaccharide biosynthetic process|fluid transport|stomach development|hypersensitivity|heart field specification|chondrocyte hypertrophy|cellular component organization|chondroitin sulfate metabolic process|lymphocyte adhesion to endothelial cell of high endothelial venule|smoothened signaling pathway involved in lung development|sweat gland development|perichondral bone morphogenesis|dendrite self-avoidance|response to heparin|embryonic skeletal joint development|lymphocyte migration into lymphoid organs|hematopoietic stem cell migration to bone marrow|bone growth|response to leukemia inhibitory factor,catalytic activity|transferase activity|organelle|endoplasmic reticulum|carbohydrate derivative metabolic process|protein modification process|protein glycosylation|signaling|immune system process|anatomical structure development|cell differentiation|circulatory system process|Golgi apparatus|sulfur compound metabolic process|protein catabolic process|protein-containing complex assembly|extracellular matrix organization|cell adhesion|cell junction organization|metal ion homeostasis|cell motility|wound healing|carbohydrate metabolic process|inflammatory response,R-MMU-71387|R-MMU-1630316|R-MMU-1430728|R-MMU-2022928|""|R-MMU-1638091,199556|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000061731
Ext1,chr15,53139288,53139288,1,+,promoter,,,44,110941,,,,,"G|intron_variant|MODIFIER|Ext1|ENSMUSG00000061731|Transcript|ENSMUST00000077273|protein_coding||1/10||||||||||-1||MGI|||4.600|",abnormal developmental patterning|abnormal embryonic tissue morphology|abnormal extraembryonic tissue morphology|abnormal eye morphology|abnormal limb morphology|abnormal long bone epiphyseal plate proliferative zone|abnormal skeleton morphology|absent mesoderm|decreased embryo size|disorganized embryonic tissue|embryonic lethality|embryonic lethality between implantation and somite formation complete penetrance|failure of primitive streak formation|failure to gastrulate|increased osteochondroma incidence|no abnormal phenotype detected|premature death|prenatal lethality complete penetrance,"",integral component of membrane|glycosyltransferase activity|endoplasmic reticulum|protein glycosylation|glucuronosyltransferase activity|heparan sulfate proteoglycan biosynthetic process|gene expression|canonical Wnt signaling pathway|hematopoietic stem cell differentiation|multicellular organism growth|BMP signaling pathway|cell morphogenesis|regulation of blood pressure|ossification|cell population proliferation|cellular response to virus|response to virus|glandular epithelial cell differentiation|social behavior|"synaptic transmission, glutamatergic"|synapse|membrane|transferase activity|Golgi membrane|Golgi apparatus|metal ion binding|endoplasmic reticulum membrane|protein homodimerization activity|brain development|endoderm development|sulfation|protein heterodimerization activity|protein catabolic process|protein-containing complex assembly|hematopoietic progenitor cell differentiation|optic nerve development|bone resorption|hematopoietic stem cell homeostasis|collagen fibril organization|chondrocyte differentiation|neuron projection development|smoothened signaling pathway|cranial skeletal system development|cell adhesion|cell adhesion mediated by integrin|blood vessel remodeling|olfactory bulb development|epithelium development|fibroblast growth factor receptor signaling pathway|cellular response to fibroblast growth factor stimulus|tight junction organization|gastrulation|cell surface receptor signaling pathway|acetylglucosaminyltransferase activity|sodium ion homeostasis|stem cell division|vocalization behavior|cell fate commitment|ossification involved in bone maturation|chondrocyte proliferation|antigen processing and presentation|bone morphogenesis|dendritic cell migration|heart contraction|epithelial tube branching involved in lung morphogenesis|cellular response to BMP stimulus|axon guidance|hair cycle process|vasodilation|heparin biosynthetic process|motor behavior|wound healing|TNFSF11-mediated signaling pathway|glycosaminoglycan biosynthetic process|hair follicle morphogenesis|endochondral ossification|basement membrane organization|proteoglycan biosynthetic process|leukocyte tethering or rolling|limb joint morphogenesis|endochondral bone morphogenesis|glomerular basement membrane development|cartilage development involved in endochondral bone morphogenesis|mesoderm development|vacuole organization|response to light intensity|fear response|mesenchyme development|embryonic morphogenesis|neural crest cell differentiation|podocyte differentiation|multicellular organismal water homeostasis|developmental growth involved in morphogenesis|sebaceous gland development|response to growth factor|endochondral bone growth|mesenchymal cell differentiation involved in bone development|heparin metabolic process|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|"heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process"|cellular polysaccharide biosynthetic process|fluid transport|stomach development|hypersensitivity|heart field specification|chondrocyte hypertrophy|cellular component organization|chondroitin sulfate metabolic process|lymphocyte adhesion to endothelial cell of high endothelial venule|smoothened signaling pathway involved in lung development|sweat gland development|perichondral bone morphogenesis|dendrite self-avoidance|response to heparin|embryonic skeletal joint development|lymphocyte migration into lymphoid organs|hematopoietic stem cell migration to bone marrow|bone growth|response to leukemia inhibitory factor,catalytic activity|transferase activity|organelle|endoplasmic reticulum|carbohydrate derivative metabolic process|protein modification process|protein glycosylation|signaling|immune system process|anatomical structure development|cell differentiation|circulatory system process|Golgi apparatus|sulfur compound metabolic process|protein catabolic process|protein-containing complex assembly|extracellular matrix organization|cell adhesion|cell junction organization|metal ion homeostasis|cell motility|wound healing|carbohydrate metabolic process|inflammatory response,R-MMU-71387|R-MMU-1630316|R-MMU-1430728|R-MMU-2022928|""|R-MMU-1638091,199556|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000061731
Gtf2a1,chr12,91559782,91559782,1,+,promoter,,,34,95284,,,,,"G|missense_variant|MODERATE|Gtf2a1|ENSMUSG00000020962|Transcript|ENSMUST00000021345|protein_coding|9/9||||1544|1099|367|Y/H|Tat/Cat|||-1||MGI||deleterious(0)|1.280|",increased total body fat amount|preweaning lethality complete penetrance|abnormal spermatid morphology|abnormal suckling behavior|abnormal testis morphology|arrest of spermiogenesis|azoospermia|decreased testis weight|increased male germ cell apoptosis|male infertility|neonatal lethality incomplete penetrance|small seminiferous tubules,C57BL/6N|"",transcription initiation at RNA polymerase II promoter|transcription factor TFIIA complex|nucleus|protein binding|positive regulation of transcription by RNA polymerase II|cytosol|cytoplasm|transcription by RNA polymerase II|nucleoplasm|DNA binding|protein heterodimerization activity|RNA polymerase II general transcription initiation factor activity|positive regulation of transcription initiation by RNA polymerase II|transcription factor TFIID complex|RNA polymerase II-specific DNA-binding transcription factor binding|RNA polymerase II preinitiation complex assembly|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II general transcription initiation factor binding|TBP-class protein binding|transcription preinitiation complex,DNA-templated transcription|organelle|nucleus|nucleoplasm|regulation of DNA-templated transcription|cytosol|DNA binding|general transcription initiation factor activity|protein-containing complex assembly,""|R-MMU-73857|R-MMU-8939211|R-MMU-9006931|R-MMU-9018519|R-MMU-74160|R-MMU-162582|R-MMU-73776|R-MMU-6807505|R-MMU-76042|R-MMU-674695|R-MMU-75953|R-MMU-73779,|219952,"",,""|principal1,tsl1 (assigned to previous version 6)|tsl1 (assigned to previous version 13)|tsl3 (assigned to previous version 1),ENSMUSG00000020962
Luzp1,chr4,136543409,136543409,1,+,coding,2942,2942,12,29441,51792,269593,,,"G|missense_variant|MODERATE|Luzp1|ENSMUSG00000001089|Transcript|ENSMUST00000170102|protein_coding|4/5||||3339|2942|981|L/R|cTc/cGc|||1||MGI||deleterious(0.01)|-0.160|",abnormal hindbrain morphology|abnormal neural fold morphology|abnormal pons morphology|abnormal rhombic lip morphology|abnormal roof plate morphology|anencephaly|cleft secondary palate|cyanosis|double outlet right ventricle|enlarged brain ventricles|exencephaly|failure of eyelid fusion|incomplete rostral neuropore closure|increased hindbrain apoptosis|omphalocele|palatal shelves fail to meet at midline|perinatal lethality complete penetrance|prenatal lethality incomplete penetrance|transposition of great arteries|ventricular septal defect,"",molecular_function|nucleus|cytoplasm|microtubule organizing center|cytoskeleton|centrosome|artery development|ventricular septum development|neural fold bending,organelle|nucleus|cytoskeleton|microtubule organizing center|anatomical structure development,"",234675|,"",,principal1|"",tsl1 (assigned to previous version 4)|tsl5 (assigned to previous version 2)|tsl5 (assigned to previous version 8)|tsl1 (assigned to previous version 6)|tsl2 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000001089
Mecom,chr3,30060617,30060617,1,-,intron,448813,448813,10,134243,,15925,,,"G|intron_variant|MODIFIER|Mecom|ENSMUSG00000027684|Transcript|ENSMUST00000173495|protein_coding||1/15||||||||||-1||MGI|||4.440|",abnormal auditory brainstem response|abnormal locomotor activation|abnormal startle reflex|decreased erythrocyte cell number|decreased hemoglobin content|decreased lean body mass|decreased prepulse inhibition|increased blood urea nitrogen level|increased bone mineral content|increased circulating amylase level|increased lean body mass|increased startle reflex|increased total body fat amount|limb grasping|preweaning lethality complete penetrance|thrombocytopenia|abnormal amnion morphology|abnormal bone marrow cell morphology/development|abnormal common myeloid progenitor cell morphology|abnormal cranial ganglia morphology|abnormal craniofacial morphology|abnormal diencephalon morphology|abnormal fetal liver hematopoietic progenitor cell morphology|abnormal forebrain morphology|abnormal heart looping|abnormal heart morphology|abnormal hematopoietic precursor cell number|abnormal hematopoietic stem cell morphology|abnormal hematopoietic stem cell physiology|abnormal immune system organ morphology|abnormal limb development|abnormal liver bud morphology|abnormal mesonephros morphology|abnormal miscarriage rate|abnormal myotome development|abnormal neutrophil differentiation|abnormal pharyngeal arch morphology|abnormal pinna reflex|abnormal platelet morphology|abnormal spinal nerve morphology|abnormal superior glossopharyngeal ganglion morphology|abnormal superior vagus ganglion morphology|abnormal tympanic membrane morphology|abnormal vitelline vasculature morphology|absent hindlimb buds|absent myotome|absent paraxial mesoderm|absent sclerotome|brachydactyly|deafness|decreased B cell number|decreased body size|decreased body weight|decreased embryo size|decreased hematopoietic stem cell number|decreased leukocyte cell number|distended pericardium|double outlet right ventricle|edema|embryonic lethality during organogenesis complete penetrance|embryonic lethality during organogenesis incomplete penetrance|enlarged pericardium|hemorrhage|impaired hearing|incomplete somite formation|increased leukocyte cell number|increased sensitivity to xenobiotic induced morbidity/mortality|increased susceptibility to otitis media|interrupted aortic arch|kyphosis|lethality throughout fetal growth and development complete penetrance|lethality complete penetrance|malocclusion|middle ear effusion|middle ear polyps|no abnormal phenotype detected|overriding aortic valve|pale placenta|pale yolk sac|perinatal lethality complete penetrance|perinatal lethality incomplete penetrance|persistent truncus arteriosis|pharyngeal arch hypoplasia|polydactyly|postnatal growth retardation|postnatal lethality complete penetrance|pulmonary vascular congestion|respiratory system inflammation|skin edema|small embryonic telencephalon|small forelimb buds|small trigeminal ganglion|trabecula carnea hypoplasia|tympanic membrane perforation|ventricular septal defect|weakness|weight loss,C57BL/6NJ|C3H/HeH|"",DNA-binding transcription factor activity|negative regulation of programmed cell death|negative regulation of DNA-templated transcription|positive regulation of DNA-templated transcription|negative regulation of JNK cascade|regulation of cell cycle|histone deacetylase complex|nucleus|nuclear speck|in utero embryonic development|response to bacterium|positive regulation of transcription by RNA polymerase II|post-embryonic development|inflammatory response|RNA polymerase II cis-regulatory region sequence-specific DNA binding|DNA binding|cytoplasm|transferase activity|metal ion binding|regulation of transcription by RNA polymerase II|protein binding|methyltransferase activity|methylation|cell differentiation|histone modification|"DNA-binding transcription activator activity, RNA polymerase II-specific"|apoptotic process|neutrophil homeostasis|protein homodimerization activity|histone methyltransferase activity (H3-K9 specific)|heterochromatin organization|positive regulation of brown fat cell differentiation|embryonic hindlimb morphogenesis|forebrain development|RNA polymerase II transcription regulatory region sequence-specific DNA binding|pericardium development|hematopoietic stem cell proliferation|embryonic forelimb morphogenesis|ureter morphogenesis|maintenance of cell number|regulation of hematopoietic stem cell proliferation|"",DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|programmed cell death|signaling|organelle|nucleus|nucleoplasm|anatomical structure development|inflammatory response|DNA binding|catalytic activity|transferase activity|cell differentiation|protein modification process|immune system process|"catalytic activity, acting on a protein"|chromatin organization,R-MMU-162582|R-MMU-6807070|""|R-MMU-1257604|R-MMU-8943724|R-MMU-4839726|R-MMU-9006925|R-MMU-3247509|R-MMU-3214841,,"",,""|principal1,tsl1 (assigned to previous version 9)|tslNA (assigned to previous version 6)|tsl5 (assigned to previous version 9)|tsl5 (assigned to previous version 7)|tslNA (assigned to previous version 1)|tsl5 (assigned to previous version 1)|tsl1 (assigned to previous version 1)|tsl1 (assigned to previous version 7),ENSMUSG00000027684
Mecom,chr3,30060046,30060046,1,-,intron,449384,449384,9,134243,,15925,,,"A|intron_variant|MODIFIER|Mecom|ENSMUSG00000027684|Transcript|ENSMUST00000173495|protein_coding||1/15||||||||||-1||MGI|||4.410|",abnormal auditory brainstem response|abnormal locomotor activation|abnormal startle reflex|decreased erythrocyte cell number|decreased hemoglobin content|decreased lean body mass|decreased prepulse inhibition|increased blood urea nitrogen level|increased bone mineral content|increased circulating amylase level|increased lean body mass|increased startle reflex|increased total body fat amount|limb grasping|preweaning lethality complete penetrance|thrombocytopenia|abnormal amnion morphology|abnormal bone marrow cell morphology/development|abnormal common myeloid progenitor cell morphology|abnormal cranial ganglia morphology|abnormal craniofacial morphology|abnormal diencephalon morphology|abnormal fetal liver hematopoietic progenitor cell morphology|abnormal forebrain morphology|abnormal heart looping|abnormal heart morphology|abnormal hematopoietic precursor cell number|abnormal hematopoietic stem cell morphology|abnormal hematopoietic stem cell physiology|abnormal immune system organ morphology|abnormal limb development|abnormal liver bud morphology|abnormal mesonephros morphology|abnormal miscarriage rate|abnormal myotome development|abnormal neutrophil differentiation|abnormal pharyngeal arch morphology|abnormal pinna reflex|abnormal platelet morphology|abnormal spinal nerve morphology|abnormal superior glossopharyngeal ganglion morphology|abnormal superior vagus ganglion morphology|abnormal tympanic membrane morphology|abnormal vitelline vasculature morphology|absent hindlimb buds|absent myotome|absent paraxial mesoderm|absent sclerotome|brachydactyly|deafness|decreased B cell number|decreased body size|decreased body weight|decreased embryo size|decreased hematopoietic stem cell number|decreased leukocyte cell number|distended pericardium|double outlet right ventricle|edema|embryonic lethality during organogenesis complete penetrance|embryonic lethality during organogenesis incomplete penetrance|enlarged pericardium|hemorrhage|impaired hearing|incomplete somite formation|increased leukocyte cell number|increased sensitivity to xenobiotic induced morbidity/mortality|increased susceptibility to otitis media|interrupted aortic arch|kyphosis|lethality throughout fetal growth and development complete penetrance|lethality complete penetrance|malocclusion|middle ear effusion|middle ear polyps|no abnormal phenotype detected|overriding aortic valve|pale placenta|pale yolk sac|perinatal lethality complete penetrance|perinatal lethality incomplete penetrance|persistent truncus arteriosis|pharyngeal arch hypoplasia|polydactyly|postnatal growth retardation|postnatal lethality complete penetrance|pulmonary vascular congestion|respiratory system inflammation|skin edema|small embryonic telencephalon|small forelimb buds|small trigeminal ganglion|trabecula carnea hypoplasia|tympanic membrane perforation|ventricular septal defect|weakness|weight loss,C57BL/6NJ|C3H/HeH|"",DNA-binding transcription factor activity|negative regulation of programmed cell death|negative regulation of DNA-templated transcription|positive regulation of DNA-templated transcription|negative regulation of JNK cascade|regulation of cell cycle|histone deacetylase complex|nucleus|nuclear speck|in utero embryonic development|response to bacterium|positive regulation of transcription by RNA polymerase II|post-embryonic development|inflammatory response|RNA polymerase II cis-regulatory region sequence-specific DNA binding|DNA binding|cytoplasm|transferase activity|metal ion binding|regulation of transcription by RNA polymerase II|protein binding|methyltransferase activity|methylation|cell differentiation|histone modification|"DNA-binding transcription activator activity, RNA polymerase II-specific"|apoptotic process|neutrophil homeostasis|protein homodimerization activity|histone methyltransferase activity (H3-K9 specific)|heterochromatin organization|positive regulation of brown fat cell differentiation|embryonic hindlimb morphogenesis|forebrain development|RNA polymerase II transcription regulatory region sequence-specific DNA binding|pericardium development|hematopoietic stem cell proliferation|embryonic forelimb morphogenesis|ureter morphogenesis|maintenance of cell number|regulation of hematopoietic stem cell proliferation|"",DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|programmed cell death|signaling|organelle|nucleus|nucleoplasm|anatomical structure development|inflammatory response|DNA binding|catalytic activity|transferase activity|cell differentiation|protein modification process|immune system process|"catalytic activity, acting on a protein"|chromatin organization,R-MMU-162582|R-MMU-6807070|""|R-MMU-1257604|R-MMU-8943724|R-MMU-4839726|R-MMU-9006925|R-MMU-3247509|R-MMU-3214841,,"",,""|principal1,tsl1 (assigned to previous version 9)|tslNA (assigned to previous version 6)|tsl5 (assigned to previous version 9)|tsl5 (assigned to previous version 7)|tslNA (assigned to previous version 1)|tsl5 (assigned to previous version 1)|tsl1 (assigned to previous version 1)|tsl1 (assigned to previous version 7),ENSMUSG00000027684
Meis1,chr11,18946338,18946338,1,+,intron,65379,65379,32,72596,,71640,,,"C|intron_variant|MODIFIER|Meis1|ENSMUSG00000020160|Transcript|ENSMUST00000185131|protein_coding||7/11||||||||||-1||MGI|||4.010|",decreased prepulse inhibition|hyperactivity|increased bone mineral content|increased startle reflex|preweaning lethality complete penetrance|abnormal angiogenesis|abnormal blood vessel morphology|abnormal brain morphology|abnormal capillary branching pattern|abnormal capillary morphology|abnormal heart morphology|abnormal kidney morphology|abnormal liver morphology|abnormal lung morphology|abnormal megakaryocyte progenitor cell morphology|abnormal retina morphology|abnormal vascular branching morphogenesis|absent common myeloid progenitor cells|absent megakaryocytes|absent platelets|decreased common myeloid progenitor cell number|embryonic lethality during organogenesis complete penetrance|embryonic lethality during organogenesis incomplete penetrance|hemorrhage|impaired hematopoiesis|increased grip strength|lethality throughout fetal growth and development complete penetrance|liver hypoplasia|microphthalmia|pallor|small lens|ventricular septal defect,C57BL/6NJ|"",DNA binding|regulation of DNA-templated transcription|nucleus|sequence-specific DNA binding|protein binding|regulation of transcription by RNA polymerase II|RNA polymerase II cis-regulatory region sequence-specific DNA binding|chromatin binding|angiogenesis|locomotory behavior|"DNA-binding transcription factor activity, RNA polymerase II-specific"|"DNA-binding transcription activator activity, RNA polymerase II-specific"|positive regulation of transcription by RNA polymerase II|positive regulation of cell population proliferation|hemopoiesis|blood vessel morphogenesis|brain development|transcription regulator complex|nucleoplasm|negative regulation of neuron differentiation|animal organ morphogenesis|megakaryocyte development|definitive hemopoiesis|eye development|lens morphogenesis in camera-type eye|negative regulation of myeloid cell differentiation|embryonic pattern specification,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|anatomical structure development|transcription regulator activity|immune system process|nucleoplasm|cell differentiation,"",201386|,"",,""|principal4|alternative1,tsl5 (assigned to previous version 10)|tsl1 (assigned to previous version 13)|tsl1 (assigned to previous version 7)|tsl5 (assigned to previous version 3)|tsl2 (assigned to previous version 7)|tsl1 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000020160
Meis1,chr11,18900858,18900858,1,+,intron,151127,151127,31,72602,,,,,"C|intron_variant|MODIFIER|Meis1|ENSMUSG00000020160|Transcript|ENSMUST00000185131|protein_coding||9/11||||||||||-1||MGI|||4.210|",decreased prepulse inhibition|hyperactivity|increased bone mineral content|increased startle reflex|preweaning lethality complete penetrance|abnormal angiogenesis|abnormal blood vessel morphology|abnormal brain morphology|abnormal capillary branching pattern|abnormal capillary morphology|abnormal heart morphology|abnormal kidney morphology|abnormal liver morphology|abnormal lung morphology|abnormal megakaryocyte progenitor cell morphology|abnormal retina morphology|abnormal vascular branching morphogenesis|absent common myeloid progenitor cells|absent megakaryocytes|absent platelets|decreased common myeloid progenitor cell number|embryonic lethality during organogenesis complete penetrance|embryonic lethality during organogenesis incomplete penetrance|hemorrhage|impaired hematopoiesis|increased grip strength|lethality throughout fetal growth and development complete penetrance|liver hypoplasia|microphthalmia|pallor|small lens|ventricular septal defect,C57BL/6NJ|"",DNA binding|regulation of DNA-templated transcription|nucleus|sequence-specific DNA binding|protein binding|regulation of transcription by RNA polymerase II|RNA polymerase II cis-regulatory region sequence-specific DNA binding|chromatin binding|angiogenesis|locomotory behavior|"DNA-binding transcription factor activity, RNA polymerase II-specific"|"DNA-binding transcription activator activity, RNA polymerase II-specific"|positive regulation of transcription by RNA polymerase II|positive regulation of cell population proliferation|hemopoiesis|blood vessel morphogenesis|brain development|transcription regulator complex|nucleoplasm|negative regulation of neuron differentiation|animal organ morphogenesis|megakaryocyte development|definitive hemopoiesis|eye development|lens morphogenesis in camera-type eye|negative regulation of myeloid cell differentiation|embryonic pattern specification,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|anatomical structure development|transcription regulator activity|immune system process|nucleoplasm|cell differentiation,"",201386|,"",,""|principal4|alternative1,tsl5 (assigned to previous version 10)|tsl1 (assigned to previous version 13)|tsl1 (assigned to previous version 7)|tsl5 (assigned to previous version 3)|tsl2 (assigned to previous version 7)|tsl1 (assigned to previous version 1)|tsl5 (assigned to previous version 7),ENSMUSG00000020160
Mrtfb,chr16,13400120,13400120,1,+,coding,1135,1135,45,115674,201474,239719,,,"G|missense_variant|MODERATE|Mrtfb|ENSMUSG00000009569|Transcript|ENSMUST00000009713|protein_coding|11/17||||1306|1135|379|S/G|Agc/Ggc|||1||MGI||deleterious(0.03)|0.413|",abnormal aorta tunica media morphology|abnormal artery morphology|abnormal cardiac outflow tract development|abnormal cell adhesion|abnormal common carotid artery morphology|abnormal descending thoracic aorta morphology|abnormal fourth pharyngeal arch artery morphology|abnormal heart and great vessel attachment|abnormal heart morphology|abnormal heart ventricle morphology|abnormal liver morphology|abnormal pharyngeal arch artery morphology|abnormal sixth pharyngeal arch artery morphology|abnormal visceral yolk sac morphology|abnormal vitelline vein morphology|absent aorticopulmonary septum|aneurysm|aortic aneurysm|congestive heart failure|dilated aorta|dilated basilar artery|dilated third pharyngeal arch artery|double outlet right ventricle|edema|hemorrhage|impaired cardiac neural crest cell differentiation|internal hemorrhage|interrupted aortic arch|lethality throughout fetal growth and development complete penetrance|lethality throughout fetal growth and development incomplete penetrance|liver hemorrhage|lung hemorrhage|pale yolk sac|pericardial edema|perimembraneous ventricular septal defect|perinatal lethality incomplete penetrance|persistent truncus arteriosis|right aortic arch|thin myocardium|vascular smooth muscle hypoplasia|ventricular septal defect,"",nucleus|positive regulation of transcription by RNA polymerase II|transcription coactivator activity|positive regulation of striated muscle tissue development|positive regulation of miRNA transcription,organelle|nucleus|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|anatomical structure development,"",,"",,""|principal2|alternative2,tsl1 (assigned to previous version 6)|tsl2 (assigned to previous version 7)|tsl5 (assigned to previous version 13)|tsl1 (assigned to previous version 1),ENSMUSG00000009569
Naca,chr10,128039839,128039839,1,+,intron,19560,19560,30,65743,,11513,,,"T|missense_variant|MODERATE|Naca|ENSMUSG00000061315|Transcript|ENSMUST00000092048|protein_coding|3/9||||790|739|247|R/W|Cgg/Tgg|||1||MGI||deleterious(0.01)||",abnormal bone mineralization|abnormal bone trabecula morphology|abnormal fetal cardiomyocyte proliferation|abnormal heart ventricle morphology|abnormal interventricular septum morphology|abnormal muscle physiology|abnormal myocardial trabeculae morphology|abnormal myocardium layer morphology|abnormal osteocyte morphology|abnormal osteoid morphology|decreased body weight|decreased bone mineralization|decreased bone ossification|decreased bone trabecula number|decreased bone volume|decreased osteoid thickness|decreased osteoid volume|decreased skeletal muscle mass|decreased trabecular bone thickness|embryonic growth retardation|embryonic lethality during organogenesis incomplete penetrance|hemopericardium|impaired skeletal muscle regeneration|increased osteocyte number|no abnormal phenotype detected|pericardial edema|postnatal growth retardation|thin myocardium|ventricular hypoplasia,"",nascent polypeptide-associated complex|nucleus|cytoplasm|DNA binding|protein transport|protein targeting to membrane|transcription coactivator activity|positive regulation of transcription by RNA polymerase II|heart development|unfolded protein binding|negative regulation of transcription by RNA polymerase II|wound healing|skeletal muscle tissue regeneration|TBP-class protein binding|heart trabecula morphogenesis|myoblast migration|positive regulation of cell proliferation involved in heart morphogenesis|negative regulation of protein localization to endoplasmic reticulum|cardiac ventricle development|negative regulation of striated muscle cell apoptotic process|positive regulation of skeletal muscle tissue growth|regulation of skeletal muscle fiber development|positive regulation of DNA-templated transcription,organelle|nucleus|DNA binding|intracellular protein transport|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|anatomical structure development|wound healing|cell motility|programmed cell death|cell differentiation,"",201682,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl1 (assigned to previous version 12),ENSMUSG00000061315
Pkd2,chr5,104486782,104486782,1,+,coding,1678,1678,16,36547,65258,18764,,,"G|missense_variant|MODERATE|Pkd2|ENSMUSG00000034462|Transcript|ENSMUST00000086831|protein_coding|7/15||||1865|1678|560|S/G|Agt/Ggt|||1||MGI||deleterious(0)|-0.992|",abnormal amniotic fluid composition|abnormal cholangiocyte morphology|abnormal cholangiocyte primary cilium morphology|abnormal direction of embryo turning|abnormal heart development|abnormal heart looping|abnormal hepatic vein morphology|abnormal kidney morphology|abnormal left-right axis patterning|abnormal liver development|abnormal liver morphology|abnormal lung development|abnormal pancreas morphology|abnormal papillary duct morphology|abnormal placental labyrinth vasculature morphology|abnormal primitive node morphology|abnormal stomach position or orientation|absent spleen|atrial septal defect|atrioventricular septal defect|bile duct proliferation|dextrocardia|dilated bile duct|dilated pancreatic duct|dilated proximal convoluted tubule|dilated renal tubule|distended abdomen|edema|embryonic lethality during organogenesis complete penetrance|embryonic lethality during organogenesis incomplete penetrance|enlarged kidney|enlarged liver|hemorrhage|hydrops fetalis|increased blood urea nitrogen level|increased cholangiocyte apoptosis|increased glomerular capsule space|increased kidney apoptosis|increased kidney cell proliferation|increased kidney weight|increased liver weight|kidney cortex cyst|kidney cyst|kidney failure|kidney medulla cyst|left pulmonary isomerism|lethality throughout fetal growth and development complete penetrance|liver cyst|liver fibrosis|mesocardia|no abnormal phenotype detected|pancreas cyst|pericardial effusion|polycystic kidney|polyhydramnios|postnatal growth retardation|postnatal lethality incomplete penetrance|premature death|right pulmonary isomerism|right-sided stomach|situs ambiguus|situs inversus|ventricular septal defect,"",membrane|calcium ion binding|embryonic placenta development|protein binding|positive regulation of transcription by RNA polymerase II|regulation of cell cycle|heart development|cytosol|cytoplasm|negative regulation of G1/S transition of mitotic cell cycle|cellular response to cAMP|receptor signaling pathway via JAK-STAT|regulation of cell population proliferation|Golgi apparatus|metal ion binding|plasma membrane|ion transport|potassium ion transport|endoplasmic reticulum|endoplasmic reticulum membrane|cytoplasmic vesicle|voltage-gated ion channel activity|potassium channel activity|regulation of ion transmembrane transport|potassium ion transmembrane transport|basolateral plasma membrane|cytoplasmic vesicle membrane|Wnt signaling pathway|cell projection|calcium channel activity|calcium ion transport|calcium ion transmembrane transport|lamellipodium|cilium|signaling receptor binding|establishment of localization in cell|identical protein binding|motile cilium|protein homodimerization activity|positive regulation of cytosolic calcium ion concentration|kidney development|ciliary membrane|non-motile cilium|transmembrane transporter binding|ATPase binding|membrane-bounded organelle|cellular calcium ion homeostasis|positive regulation of nitric oxide biosynthetic process|cellular response to osmotic stress|cation channel activity|actinin binding|mitotic spindle|cytoskeletal protein binding|muscle alpha-actinin binding|alpha-actinin binding|sodium ion transmembrane transport|detection of mechanical stimulus|protein tetramerization|protein homotetramerization|inorganic cation transmembrane transport|lumenal side of endoplasmic reticulum membrane|cytoplasmic side of endoplasmic reticulum membrane|basal plasma membrane|positive regulation of gene expression|determination of left/right symmetry|calcium-induced calcium release activity|release of sequestered calcium ion into cytosol|cellular response to calcium ion|ciliary basal body|voltage-gated sodium channel activity|liver development|cilium organization|voltage-gated potassium channel activity|voltage-gated calcium channel activity|phosphoprotein binding|positive regulation of cyclin-dependent protein serine/threonine kinase activity|protein heterotetramerization|placenta blood vessel development|cell-cell signaling by wnt|polycystin complex|cation channel complex|negative regulation of ryanodine-sensitive calcium-release channel activity|cell-cell junction|channel activity|outward rectifier potassium channel activity|voltage-gated cation channel activity|HLH domain binding|branching involved in ureteric bud morphogenesis|heart looping|detection of nodal flow|spinal cord development|neural tube development|"positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity"|metanephric part of ureteric bud development|aorta development|cytoplasmic sequestering of transcription factor|renal tubule morphogenesis|renal artery morphogenesis|cellular response to hydrostatic pressure|cellular response to fluid shear stress|determination of liver left/right asymmetry|metanephric mesenchyme development|mesonephric tubule development|mesonephric duct development|metanephric smooth muscle tissue development|metanephric cortex development|metanephric ascending thin limb development|metanephric cortical collecting duct development|metanephric distal tubule development|metanephric S-shaped body morphogenesis|regulation of calcium ion import|basal cortex,anatomical structure development|DNA-templated transcription|regulation of DNA-templated transcription|cytosol|mitotic cell cycle|signaling|organelle|Golgi apparatus|plasma membrane|endoplasmic reticulum|cytoplasmic vesicle|transporter activity|transmembrane transport|cilium|metal ion homeostasis|cytoskeletal protein binding|cytoskeleton|protein-containing complex assembly|microtubule organizing center|cilium organization|protein modification process,R-MMU-5620916|R-MMU-5617833|R-MMU-5620920|R-MMU-1852241,202205,"",,""|principal1,tsl2 (assigned to previous version 1)|tsl1 (assigned to previous version 1)|tsl1 (assigned to previous version 3),ENSMUSG00000034462
Rora,chr9,68913470,68913470,1,-,intron,259498,259498,28,58173,,56707,,,"A|intron_variant|MODIFIER|Rora|ENSMUSG00000032238|Transcript|ENSMUST00000034766|protein_coding||1/10||||||||||1||MGI|||4.410|",increased circulating alkaline phosphatase level|preweaning lethality incomplete penetrance|Purkinje cell degeneration|abnormal Purkinje cell dendrite morphology|abnormal Purkinje cell differentiation|abnormal Purkinje cell morphology|abnormal brain interneuron morphology|abnormal brain morphology|abnormal cerebellar Purkinje cell layer|abnormal cerebellar foliation|abnormal cerebellar granule cell morphology|abnormal cerebellar granule layer morphology|abnormal cerebellar layer morphology|abnormal cerebellar molecular layer|abnormal cerebellum deep nucleus morphology|abnormal cerebellum external granule cell layer morphology|abnormal cerebellum morphology|abnormal cochlear VIII nucleus morphology|abnormal estrous cycle|abnormal excitatory postsynaptic currents|abnormal external female genitalia morphology|abnormal female reproductive system physiology|abnormal fertility/fecundity|abnormal gait|abnormal hormone level|abnormal immune system organ morphology|abnormal immune system physiology|abnormal inferior olivary complex morphology|abnormal limb posture|abnormal lipid homeostasis|abnormal lung compliance|abnormal macrophage physiology|abnormal maternal nurturing|abnormal motor capabilities/coordination/movement|abnormal motor learning|abnormal nervous system physiology|abnormal neuron proliferation|abnormal olfaction|abnormal olfactory bulb external plexiform layer morphology|abnormal olfactory bulb glomerular layer morphology|abnormal olfactory bulb granule cell layer morphology|abnormal olfactory bulb granule cell morphology|abnormal olfactory bulb internal plexiform layer morphology|abnormal olfactory bulb layer morphology|abnormal olfactory bulb mitral cell layer morphology|abnormal olfactory bulb morphology|abnormal olfactory bulb outer nerve layer morphology|abnormal radial glial cell morphology|abnormal respiratory mucosa morphology|abnormal sexual interaction|abnormal spatial learning|abnormal synaptic glutamate release|abnormal vasoconstriction|abnormal vasodilation|absent cerebellar granule cells|absent cerebellar granule layer|absent duvet hair|ataxia|atherosclerotic lesions|decreased Purkinje cell number|decreased aspartic acid level|decreased body size|decreased cerebellar granule cell number|decreased cerebellar granule cell precursor proliferation|decreased circulating HDL cholesterol level|decreased circulating cholesterol level|decreased gamma-aminobutyric acid level|decreased grip strength|decreased locomotor activity|decreased mean systemic arterial blood pressure|decreased taurine level|delaminated Purkinje cell layer|delayed estrous cycle|ectopic Purkinje cell|ectopic cerebellar granule cells|hindlimb paralysis|impaired balance|impaired coordination|impaired limb coordination|impaired righting response|increased IgE level|increased angiogenesis|increased interleukin-1 secretion|increased noradrenaline level|increased susceptibility to atherosclerosis|lethality at weaning incomplete penetrance|limb grasping|lung inflammation|postnatal lethality complete penetrance|postnatal lethality incomplete penetrance|prolonged estrus|prolonged metestrus|reduced cerebellar foliation|reduced female fertility|retarded hair growth|small cerebellum|small olfactory bulb|sparse hair|spleen atrophy|thin cerebellar granule layer|thin cerebellar molecular layer|thymus atrophy|tremors,C57BL/6NTac|C57BL/6NTAC|"",DNA binding|zinc ion binding|regulation of DNA-templated transcription|nucleus|DNA-binding transcription factor activity|sequence-specific DNA binding|nuclear receptor activity|cellular response to hypoxia|nucleolus|positive regulation of transcription by RNA polymerase II|cellular response to tumor necrosis factor|negative regulation of inflammatory response|RNA polymerase II cis-regulatory region sequence-specific DNA binding|angiogenesis|metal ion binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|protein binding|positive regulation of DNA-templated transcription|regulation of gene expression|RNA polymerase II transcription regulatory region sequence-specific DNA binding|rhythmic process|negative regulation of I-kappaB kinase/NF-kappaB signaling|nucleoplasm|beta-catenin binding|circadian regulation of gene expression|transcription coregulator binding|cerebellar Purkinje cell differentiation|transcription coactivator binding|transcription corepressor binding|regulation of glucose metabolic process|regulation of macrophage activation|xenobiotic metabolic process|muscle cell differentiation|regulation of circadian rhythm|cholesterol homeostasis|regulation of smoothened signaling pathway|cellular response to interleukin-1|nitric oxide biosynthetic process|cerebellar granule cell precursor proliferation|cGMP metabolic process|positive regulation of vascular endothelial growth factor production|triglyceride homeostasis|intracellular receptor signaling pathway|positive regulation of circadian rhythm|oxysterol binding|ligand-activated transcription factor activity|regulation of steroid metabolic process|cellular response to sterol|negative regulation of fat cell differentiation|T-helper 17 cell differentiation|DNA-templated transcription,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|molecular transducer activity|signaling|nucleolus|inflammatory response|anatomical structure development|nucleoplasm|cell differentiation|carbohydrate metabolic process|immune system process|carbohydrate derivative metabolic process|nucleobase-containing small molecule metabolic process|lipid binding|lipid metabolic process,""|R-MMU-3108232|R-MMU-4090294|R-MMU-2990846|R-MMU-383280|R-MMU-73857|R-MMU-212436|R-MMU-392499|R-MMU-597592|R-MMU-74160,|202956,"",,principal1|"",tsl1 (assigned to previous version 2)|tsl1 (assigned to previous version 13)|tsl3 (assigned to previous version 7)|tsl2 (assigned to previous version 1)|tsl5 (assigned to previous version 1),ENSMUSG00000032238
Rora,chr9,69102790,69102790,1,-,intron,448818,448818,29,58173,,56707,,,"G|intron_variant|MODIFIER|Rora|ENSMUSG00000032238|Transcript|ENSMUST00000034766|protein_coding||1/10||||||||||1||MGI|||4.410|",increased circulating alkaline phosphatase level|preweaning lethality incomplete penetrance|Purkinje cell degeneration|abnormal Purkinje cell dendrite morphology|abnormal Purkinje cell differentiation|abnormal Purkinje cell morphology|abnormal brain interneuron morphology|abnormal brain morphology|abnormal cerebellar Purkinje cell layer|abnormal cerebellar foliation|abnormal cerebellar granule cell morphology|abnormal cerebellar granule layer morphology|abnormal cerebellar layer morphology|abnormal cerebellar molecular layer|abnormal cerebellum deep nucleus morphology|abnormal cerebellum external granule cell layer morphology|abnormal cerebellum morphology|abnormal cochlear VIII nucleus morphology|abnormal estrous cycle|abnormal excitatory postsynaptic currents|abnormal external female genitalia morphology|abnormal female reproductive system physiology|abnormal fertility/fecundity|abnormal gait|abnormal hormone level|abnormal immune system organ morphology|abnormal immune system physiology|abnormal inferior olivary complex morphology|abnormal limb posture|abnormal lipid homeostasis|abnormal lung compliance|abnormal macrophage physiology|abnormal maternal nurturing|abnormal motor capabilities/coordination/movement|abnormal motor learning|abnormal nervous system physiology|abnormal neuron proliferation|abnormal olfaction|abnormal olfactory bulb external plexiform layer morphology|abnormal olfactory bulb glomerular layer morphology|abnormal olfactory bulb granule cell layer morphology|abnormal olfactory bulb granule cell morphology|abnormal olfactory bulb internal plexiform layer morphology|abnormal olfactory bulb layer morphology|abnormal olfactory bulb mitral cell layer morphology|abnormal olfactory bulb morphology|abnormal olfactory bulb outer nerve layer morphology|abnormal radial glial cell morphology|abnormal respiratory mucosa morphology|abnormal sexual interaction|abnormal spatial learning|abnormal synaptic glutamate release|abnormal vasoconstriction|abnormal vasodilation|absent cerebellar granule cells|absent cerebellar granule layer|absent duvet hair|ataxia|atherosclerotic lesions|decreased Purkinje cell number|decreased aspartic acid level|decreased body size|decreased cerebellar granule cell number|decreased cerebellar granule cell precursor proliferation|decreased circulating HDL cholesterol level|decreased circulating cholesterol level|decreased gamma-aminobutyric acid level|decreased grip strength|decreased locomotor activity|decreased mean systemic arterial blood pressure|decreased taurine level|delaminated Purkinje cell layer|delayed estrous cycle|ectopic Purkinje cell|ectopic cerebellar granule cells|hindlimb paralysis|impaired balance|impaired coordination|impaired limb coordination|impaired righting response|increased IgE level|increased angiogenesis|increased interleukin-1 secretion|increased noradrenaline level|increased susceptibility to atherosclerosis|lethality at weaning incomplete penetrance|limb grasping|lung inflammation|postnatal lethality complete penetrance|postnatal lethality incomplete penetrance|prolonged estrus|prolonged metestrus|reduced cerebellar foliation|reduced female fertility|retarded hair growth|small cerebellum|small olfactory bulb|sparse hair|spleen atrophy|thin cerebellar granule layer|thin cerebellar molecular layer|thymus atrophy|tremors,C57BL/6NTac|C57BL/6NTAC|"",DNA binding|zinc ion binding|regulation of DNA-templated transcription|nucleus|DNA-binding transcription factor activity|sequence-specific DNA binding|nuclear receptor activity|cellular response to hypoxia|nucleolus|positive regulation of transcription by RNA polymerase II|cellular response to tumor necrosis factor|negative regulation of inflammatory response|RNA polymerase II cis-regulatory region sequence-specific DNA binding|angiogenesis|metal ion binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|protein binding|positive regulation of DNA-templated transcription|regulation of gene expression|RNA polymerase II transcription regulatory region sequence-specific DNA binding|rhythmic process|negative regulation of I-kappaB kinase/NF-kappaB signaling|nucleoplasm|beta-catenin binding|circadian regulation of gene expression|transcription coregulator binding|cerebellar Purkinje cell differentiation|transcription coactivator binding|transcription corepressor binding|regulation of glucose metabolic process|regulation of macrophage activation|xenobiotic metabolic process|muscle cell differentiation|regulation of circadian rhythm|cholesterol homeostasis|regulation of smoothened signaling pathway|cellular response to interleukin-1|nitric oxide biosynthetic process|cerebellar granule cell precursor proliferation|cGMP metabolic process|positive regulation of vascular endothelial growth factor production|triglyceride homeostasis|intracellular receptor signaling pathway|positive regulation of circadian rhythm|oxysterol binding|ligand-activated transcription factor activity|regulation of steroid metabolic process|cellular response to sterol|negative regulation of fat cell differentiation|T-helper 17 cell differentiation|DNA-templated transcription,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|molecular transducer activity|signaling|nucleolus|inflammatory response|anatomical structure development|nucleoplasm|cell differentiation|carbohydrate metabolic process|immune system process|carbohydrate derivative metabolic process|nucleobase-containing small molecule metabolic process|lipid binding|lipid metabolic process,""|R-MMU-3108232|R-MMU-4090294|R-MMU-2990846|R-MMU-383280|R-MMU-73857|R-MMU-212436|R-MMU-392499|R-MMU-597592|R-MMU-74160,|202956,"",,principal1|"",tsl1 (assigned to previous version 2)|tsl1 (assigned to previous version 13)|tsl3 (assigned to previous version 7)|tsl2 (assigned to previous version 1)|tsl5 (assigned to previous version 1),ENSMUSG00000032238
Rora,chr9,68910502,68910502,1,-,intron,256530,256530,27,58173,,56707,,,"T|intron_variant|MODIFIER|Rora|ENSMUSG00000032238|Transcript|ENSMUST00000034766|protein_coding||1/10||||||||||1||MGI|||5.500|",increased circulating alkaline phosphatase level|preweaning lethality incomplete penetrance|Purkinje cell degeneration|abnormal Purkinje cell dendrite morphology|abnormal Purkinje cell differentiation|abnormal Purkinje cell morphology|abnormal brain interneuron morphology|abnormal brain morphology|abnormal cerebellar Purkinje cell layer|abnormal cerebellar foliation|abnormal cerebellar granule cell morphology|abnormal cerebellar granule layer morphology|abnormal cerebellar layer morphology|abnormal cerebellar molecular layer|abnormal cerebellum deep nucleus morphology|abnormal cerebellum external granule cell layer morphology|abnormal cerebellum morphology|abnormal cochlear VIII nucleus morphology|abnormal estrous cycle|abnormal excitatory postsynaptic currents|abnormal external female genitalia morphology|abnormal female reproductive system physiology|abnormal fertility/fecundity|abnormal gait|abnormal hormone level|abnormal immune system organ morphology|abnormal immune system physiology|abnormal inferior olivary complex morphology|abnormal limb posture|abnormal lipid homeostasis|abnormal lung compliance|abnormal macrophage physiology|abnormal maternal nurturing|abnormal motor capabilities/coordination/movement|abnormal motor learning|abnormal nervous system physiology|abnormal neuron proliferation|abnormal olfaction|abnormal olfactory bulb external plexiform layer morphology|abnormal olfactory bulb glomerular layer morphology|abnormal olfactory bulb granule cell layer morphology|abnormal olfactory bulb granule cell morphology|abnormal olfactory bulb internal plexiform layer morphology|abnormal olfactory bulb layer morphology|abnormal olfactory bulb mitral cell layer morphology|abnormal olfactory bulb morphology|abnormal olfactory bulb outer nerve layer morphology|abnormal radial glial cell morphology|abnormal respiratory mucosa morphology|abnormal sexual interaction|abnormal spatial learning|abnormal synaptic glutamate release|abnormal vasoconstriction|abnormal vasodilation|absent cerebellar granule cells|absent cerebellar granule layer|absent duvet hair|ataxia|atherosclerotic lesions|decreased Purkinje cell number|decreased aspartic acid level|decreased body size|decreased cerebellar granule cell number|decreased cerebellar granule cell precursor proliferation|decreased circulating HDL cholesterol level|decreased circulating cholesterol level|decreased gamma-aminobutyric acid level|decreased grip strength|decreased locomotor activity|decreased mean systemic arterial blood pressure|decreased taurine level|delaminated Purkinje cell layer|delayed estrous cycle|ectopic Purkinje cell|ectopic cerebellar granule cells|hindlimb paralysis|impaired balance|impaired coordination|impaired limb coordination|impaired righting response|increased IgE level|increased angiogenesis|increased interleukin-1 secretion|increased noradrenaline level|increased susceptibility to atherosclerosis|lethality at weaning incomplete penetrance|limb grasping|lung inflammation|postnatal lethality complete penetrance|postnatal lethality incomplete penetrance|prolonged estrus|prolonged metestrus|reduced cerebellar foliation|reduced female fertility|retarded hair growth|small cerebellum|small olfactory bulb|sparse hair|spleen atrophy|thin cerebellar granule layer|thin cerebellar molecular layer|thymus atrophy|tremors,C57BL/6NTac|C57BL/6NTAC|"",DNA binding|zinc ion binding|regulation of DNA-templated transcription|nucleus|DNA-binding transcription factor activity|sequence-specific DNA binding|nuclear receptor activity|cellular response to hypoxia|nucleolus|positive regulation of transcription by RNA polymerase II|cellular response to tumor necrosis factor|negative regulation of inflammatory response|RNA polymerase II cis-regulatory region sequence-specific DNA binding|angiogenesis|metal ion binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|protein binding|positive regulation of DNA-templated transcription|regulation of gene expression|RNA polymerase II transcription regulatory region sequence-specific DNA binding|rhythmic process|negative regulation of I-kappaB kinase/NF-kappaB signaling|nucleoplasm|beta-catenin binding|circadian regulation of gene expression|transcription coregulator binding|cerebellar Purkinje cell differentiation|transcription coactivator binding|transcription corepressor binding|regulation of glucose metabolic process|regulation of macrophage activation|xenobiotic metabolic process|muscle cell differentiation|regulation of circadian rhythm|cholesterol homeostasis|regulation of smoothened signaling pathway|cellular response to interleukin-1|nitric oxide biosynthetic process|cerebellar granule cell precursor proliferation|cGMP metabolic process|positive regulation of vascular endothelial growth factor production|triglyceride homeostasis|intracellular receptor signaling pathway|positive regulation of circadian rhythm|oxysterol binding|ligand-activated transcription factor activity|regulation of steroid metabolic process|cellular response to sterol|negative regulation of fat cell differentiation|T-helper 17 cell differentiation|DNA-templated transcription,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|molecular transducer activity|signaling|nucleolus|inflammatory response|anatomical structure development|nucleoplasm|cell differentiation|carbohydrate metabolic process|immune system process|carbohydrate derivative metabolic process|nucleobase-containing small molecule metabolic process|lipid binding|lipid metabolic process,""|R-MMU-3108232|R-MMU-4090294|R-MMU-2990846|R-MMU-383280|R-MMU-73857|R-MMU-212436|R-MMU-392499|R-MMU-597592|R-MMU-74160,|202956,"",,principal1|"",tsl1 (assigned to previous version 2)|tsl1 (assigned to previous version 13)|tsl3 (assigned to previous version 7)|tsl2 (assigned to previous version 1)|tsl5 (assigned to previous version 1),ENSMUSG00000032238
Sall2,chr14,52313131,52313131,1,+,promoter,,,36,105969,,,,,"A|missense_variant|MODERATE|Sall2|ENSMUSG00000049532|Transcript|ENSMUST00000058326|protein_coding|2/2||||3193|2606|869|T/I|aCc/aTc|||-1||MGI||deleterious(0.02)|-0.707|",exencephaly|no abnormal phenotype detected|open neural tube|perinatal lethality incomplete penetrance,"",positive regulation of transcription by RNA polymerase II|nucleus|DNA binding|metal ion binding|RNA polymerase II cis-regulatory region sequence-specific DNA binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|eye development|RNA polymerase II transcription regulatory region sequence-specific DNA binding|"DNA-binding transcription activator activity, RNA polymerase II-specific"|negative regulation of DNA-templated transcription|negative regulation of transcription by RNA polymerase II|neural tube development|protein-containing complex binding,DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|DNA binding|transcription regulator activity|anatomical structure development,"",206051|,"",,principal4|alternative1,tsl1 (assigned to previous version 4),ENSMUSG00000049532
Sall2,chr14,52315646,52315646,1,+,promoter,,,37,105969,,,,,"G|missense_variant|MODERATE|Sall2|ENSMUSG00000049532|Transcript|ENSMUST00000058326|protein_coding|2/2||||678|91|31|D/H|Gac/Cac|||-1||MGI||deleterious(0.01)|0.478|",exencephaly|no abnormal phenotype detected|open neural tube|perinatal lethality incomplete penetrance,"",positive regulation of transcription by RNA polymerase II|nucleus|DNA binding|metal ion binding|RNA polymerase II cis-regulatory region sequence-specific DNA binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|eye development|RNA polymerase II transcription regulatory region sequence-specific DNA binding|"DNA-binding transcription activator activity, RNA polymerase II-specific"|negative regulation of DNA-templated transcription|negative regulation of transcription by RNA polymerase II|neural tube development|protein-containing complex binding,DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|DNA binding|transcription regulator activity|anatomical structure development,"",206051|,"",,principal4|alternative1,tsl1 (assigned to previous version 4),ENSMUSG00000049532
Shox2,chr3,66978365,66978365,1,+,promoter,,,11,20556,,66880,,,"G|missense_variant|MODERATE|Shox2|ENSMUSG00000027833|Transcript|ENSMUST00000029422|protein_coding|2/5||||591|376|126|D/H|Gat/Cat|||-1||MGI||deleterious(0.01)|0.326|",prenatal lethality prior to heart atrial septation|preweaning lethality complete penetrance|abnormal blood vessel morphology|abnormal heart development|abnormal heart morphology|abnormal palatal shelf fusion at midline|abnormal secondary palate development|abnormal sinoatrial node morphology|abnormal sinus venosus morphology|abnormal temporomandibular joint disk morphology|cleft secondary palate|decreased birth body size|decreased birth weight|decreased heart rate|embryonic lethality during organogenesis complete penetrance|embryonic lethality during organogenesis incomplete penetrance|irregular heartbeat|lethality throughout fetal growth and development complete penetrance|lethality throughout fetal growth and development incomplete penetrance|pericardial edema|postnatal lethality complete penetrance|postnatal lethality incomplete penetrance|slow postnatal weight gain,C57BL/6N|"",DNA binding|regulation of DNA-templated transcription|"DNA-binding transcription factor activity, RNA polymerase II-specific"|nucleus|regulation of transcription by RNA polymerase II|positive regulation of stem cell proliferation|stem cell proliferation|osteoblast differentiation|negative regulation of transcription by RNA polymerase II|chondrocyte differentiation|smoothened signaling pathway|"DNA-binding transcription repressor activity, RNA polymerase II-specific"|positive regulation of smoothened signaling pathway|sequence-specific double-stranded DNA binding|regulation of heart rate|cardiac atrium morphogenesis|embryonic forelimb morphogenesis|heart valve development|embryonic digestive tract morphogenesis|embryonic limb morphogenesis|chondrocyte development|positive regulation of mesenchymal cell proliferation|sequence-specific DNA binding|cartilage development involved in endochondral bone morphogenesis|mesenchymal cell proliferation|embryonic morphogenesis|embryonic skeletal joint morphogenesis|regulation of chondrocyte differentiation|sinoatrial node cell development|sinoatrial node development|sinoatrial valve development|cardiac right atrium morphogenesis|positive regulation of skeletal muscle fiber development|positive regulation of axonogenesis|muscle tissue morphogenesis|cardiac pacemaker cell differentiation|regulation of branching morphogenesis of a nerve,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|organelle|nucleus|cell differentiation|anatomical structure development|signaling|circulatory system process,"",,"",,""|principal1,tsl1 (assigned to previous version 8)|tsl5 (assigned to previous version 1)|tsl1 (assigned to previous version 7)|tsl3 (assigned to previous version 8)|tsl1 (assigned to previous version 13),ENSMUSG00000027833
Sox6,chr7,115734350,115734350,1,-,intron,295992,295992,23,49869,,22419,,,"T|intron_variant|MODIFIER|Sox6|ENSMUSG00000051910|Transcript|ENSMUST00000072804|protein_coding||4/16||||||||||-1||MGI|||4.210|",abnormal sternum morphology|decreased body size|neonatal lethality incomplete penetrance|perinatal lethality incomplete penetrance|postnatal lethality complete penetrance|respiratory distress|respiratory failure,"",DNA binding|regulation of DNA-templated transcription|nucleus|transcription cis-regulatory region binding|DNA-binding transcription factor activity|protein homodimerization activity|brain development|positive regulation of chondrocyte differentiation|positive regulation of cartilage development|cellular response to transforming growth factor beta stimulus|negative regulation of cardiac muscle cell differentiation|positive regulation of mesenchymal stem cell differentiation|nucleoplasm|in utero embryonic development|sequence-specific DNA binding|protein binding|positive regulation of transcription by RNA polymerase II|gene expression|erythrocyte differentiation|post-embryonic development|regulation of gene expression|negative regulation of transcription by RNA polymerase II|cell morphogenesis|RNA polymerase II cis-regulatory region sequence-specific DNA binding|cartilage development|oligodendrocyte differentiation|regulation of DNA-binding transcription factor activity|cytoplasm|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|cell differentiation|positive regulation of DNA-templated transcription|hemopoiesis|negative regulation of DNA-templated transcription|cis-regulatory region sequence-specific DNA binding|astrocyte differentiation|transcription regulator complex|"DNA-binding transcription repressor activity, RNA polymerase II-specific"|central nervous system development|cardiac muscle cell differentiation|cell fate commitment|erythrocyte development|chondrocyte differentiation|DNA-binding transcription repressor activity|cartilage condensation|spinal cord oligodendrocyte cell differentiation|oligodendrocyte cell fate specification,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|anatomical structure development|cell differentiation|nucleoplasm|immune system process,R-MMU-195721|R-MMU-162582|""|R-MMU-201681|R-MMU-3769402,203410|,"",,principal4|""|alternative1,tsl1 (assigned to previous version 10)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tslNA (assigned to previous version 1)|tsl3 (assigned to previous version 1)|tsl1 (assigned to previous version 7)|tsl2 (assigned to previous version 1),ENSMUSG00000051910
Sox6,chr7,115827003,115827003,1,-,intron,203788,203788,24,49869,,22419,,,"G|intron_variant|MODIFIER|Sox6|ENSMUSG00000051910|Transcript|ENSMUST00000072804|protein_coding||2/16||||||||||-1||MGI|||4.060|",abnormal sternum morphology|decreased body size|neonatal lethality incomplete penetrance|perinatal lethality incomplete penetrance|postnatal lethality complete penetrance|respiratory distress|respiratory failure,"",DNA binding|regulation of DNA-templated transcription|nucleus|transcription cis-regulatory region binding|DNA-binding transcription factor activity|protein homodimerization activity|brain development|positive regulation of chondrocyte differentiation|positive regulation of cartilage development|cellular response to transforming growth factor beta stimulus|negative regulation of cardiac muscle cell differentiation|positive regulation of mesenchymal stem cell differentiation|nucleoplasm|in utero embryonic development|sequence-specific DNA binding|protein binding|positive regulation of transcription by RNA polymerase II|gene expression|erythrocyte differentiation|post-embryonic development|regulation of gene expression|negative regulation of transcription by RNA polymerase II|cell morphogenesis|RNA polymerase II cis-regulatory region sequence-specific DNA binding|cartilage development|oligodendrocyte differentiation|regulation of DNA-binding transcription factor activity|cytoplasm|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|cell differentiation|positive regulation of DNA-templated transcription|hemopoiesis|negative regulation of DNA-templated transcription|cis-regulatory region sequence-specific DNA binding|astrocyte differentiation|transcription regulator complex|"DNA-binding transcription repressor activity, RNA polymerase II-specific"|central nervous system development|cardiac muscle cell differentiation|cell fate commitment|erythrocyte development|chondrocyte differentiation|DNA-binding transcription repressor activity|cartilage condensation|spinal cord oligodendrocyte cell differentiation|oligodendrocyte cell fate specification,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|anatomical structure development|cell differentiation|nucleoplasm|immune system process,R-MMU-195721|R-MMU-162582|""|R-MMU-201681|R-MMU-3769402,203410|,"",,principal4|""|alternative1,tsl1 (assigned to previous version 10)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tslNA (assigned to previous version 1)|tsl3 (assigned to previous version 1)|tsl1 (assigned to previous version 7)|tsl2 (assigned to previous version 1),ENSMUSG00000051910
Sox6,chr7,115876579,115876579,1,-,intron,154212,154212,25,49869,,22419,,,"G|intron_variant|MODIFIER|Sox6|ENSMUSG00000051910|Transcript|ENSMUST00000072804|protein_coding||2/16||||||||||-1||MGI|||4.160|",abnormal sternum morphology|decreased body size|neonatal lethality incomplete penetrance|perinatal lethality incomplete penetrance|postnatal lethality complete penetrance|respiratory distress|respiratory failure,"",DNA binding|regulation of DNA-templated transcription|nucleus|transcription cis-regulatory region binding|DNA-binding transcription factor activity|protein homodimerization activity|brain development|positive regulation of chondrocyte differentiation|positive regulation of cartilage development|cellular response to transforming growth factor beta stimulus|negative regulation of cardiac muscle cell differentiation|positive regulation of mesenchymal stem cell differentiation|nucleoplasm|in utero embryonic development|sequence-specific DNA binding|protein binding|positive regulation of transcription by RNA polymerase II|gene expression|erythrocyte differentiation|post-embryonic development|regulation of gene expression|negative regulation of transcription by RNA polymerase II|cell morphogenesis|RNA polymerase II cis-regulatory region sequence-specific DNA binding|cartilage development|oligodendrocyte differentiation|regulation of DNA-binding transcription factor activity|cytoplasm|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|cell differentiation|positive regulation of DNA-templated transcription|hemopoiesis|negative regulation of DNA-templated transcription|cis-regulatory region sequence-specific DNA binding|astrocyte differentiation|transcription regulator complex|"DNA-binding transcription repressor activity, RNA polymerase II-specific"|central nervous system development|cardiac muscle cell differentiation|cell fate commitment|erythrocyte development|chondrocyte differentiation|DNA-binding transcription repressor activity|cartilage condensation|spinal cord oligodendrocyte cell differentiation|oligodendrocyte cell fate specification,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|anatomical structure development|cell differentiation|nucleoplasm|immune system process,R-MMU-195721|R-MMU-162582|""|R-MMU-201681|R-MMU-3769402,203410|,"",,principal4|""|alternative1,tsl1 (assigned to previous version 10)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tslNA (assigned to previous version 1)|tsl3 (assigned to previous version 1)|tsl1 (assigned to previous version 7)|tsl2 (assigned to previous version 1),ENSMUSG00000051910
Sox6,chr7,115541700,115541700,1,-,coding,1419,1419,22,62118,106225,20679,,,"A|missense_variant|MODERATE|Sox6|ENSMUSG00000051910|Transcript|ENSMUST00000072804|protein_coding|13/17||||1711|1542|514|Q/H|caA/caT|||-1||MGI||deleterious(0)|-7.810|",abnormal sternum morphology|decreased body size|neonatal lethality incomplete penetrance|perinatal lethality incomplete penetrance|postnatal lethality complete penetrance|respiratory distress|respiratory failure,"",DNA binding|regulation of DNA-templated transcription|nucleus|transcription cis-regulatory region binding|DNA-binding transcription factor activity|protein homodimerization activity|brain development|positive regulation of chondrocyte differentiation|positive regulation of cartilage development|cellular response to transforming growth factor beta stimulus|negative regulation of cardiac muscle cell differentiation|positive regulation of mesenchymal stem cell differentiation|nucleoplasm|in utero embryonic development|sequence-specific DNA binding|protein binding|positive regulation of transcription by RNA polymerase II|gene expression|erythrocyte differentiation|post-embryonic development|regulation of gene expression|negative regulation of transcription by RNA polymerase II|cell morphogenesis|RNA polymerase II cis-regulatory region sequence-specific DNA binding|cartilage development|oligodendrocyte differentiation|regulation of DNA-binding transcription factor activity|cytoplasm|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|cell differentiation|positive regulation of DNA-templated transcription|hemopoiesis|negative regulation of DNA-templated transcription|cis-regulatory region sequence-specific DNA binding|astrocyte differentiation|transcription regulator complex|"DNA-binding transcription repressor activity, RNA polymerase II-specific"|central nervous system development|cardiac muscle cell differentiation|cell fate commitment|erythrocyte development|chondrocyte differentiation|DNA-binding transcription repressor activity|cartilage condensation|spinal cord oligodendrocyte cell differentiation|oligodendrocyte cell fate specification,DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|transcription regulator activity|anatomical structure development|cell differentiation|nucleoplasm|immune system process,R-MMU-195721|R-MMU-162582|""|R-MMU-201681|R-MMU-3769402,203410|,"",,principal4|""|alternative1,tsl1 (assigned to previous version 10)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tslNA (assigned to previous version 1)|tsl3 (assigned to previous version 1)|tsl1 (assigned to previous version 7)|tsl2 (assigned to previous version 1),ENSMUSG00000051910
Spry4,chr18,38590681,38590681,1,+,promoter,,,46,127926,,,,,"A|missense_variant|MODERATE|Spry4|ENSMUSG00000024427|Transcript|ENSMUST00000025295|protein_coding|2/2||||321|28|10|V/F|Gtc/Ttc|||-1||MGI||deleterious(0.05)|0.828|",abnormal cornea morphology|abnormal digit morphology|brachydactyly|corneal opacity|decreased fasting circulating glucose level|decreased grip strength|hyperactivity|narrow eye opening|short tibia|abnormal incisor morphology|abnormal limb morphology|abnormal mandible morphology|decreased body weight|malocclusion|polysyndactyly|postnatal growth retardation|postnatal lethality incomplete penetrance|supernumerary teeth,C57BL/6NTAC|C57BL/6NTac|"",membrane|multicellular organism development|regulation of signal transduction|negative regulation of ERK1 and ERK2 cascade|cellular response to leukemia inhibitory factor|protein binding|cytoplasm|plasma membrane|cytosol|cell projection|negative regulation of substrate adhesion-dependent cell spreading|negative regulation of MAPK cascade|ruffle membrane|protein kinase inhibitor activity|negative regulation of MAP kinase activity|animal organ development|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of Ras protein signal transduction,anatomical structure development|signaling|plasma membrane|cytosol|cell differentiation|cell adhesion|molecular function regulator activity|protein modification process,"",204878,"",,principal1,tsl1 (assigned to previous version 6),ENSMUSG00000024427
Tcf4,chr18,69407750,69407750,1,+,intron,72330,72330,47,104964,,11744,,,"C|intron_variant|MODIFIER|Tcf4|ENSMUSG00000053477|Transcript|ENSMUST00000114985|protein_coding||3/19||||||||||1||MGI|||4.410|",abnormal retina morphology|preweaning lethality incomplete penetrance|abnormal T cell differentiation|abnormal T cell physiology|abnormal action potential|abnormal brain development|abnormal brain morphology|abnormal corpus callosum morphology|abnormal dentate gyrus morphology|abnormal gait|abnormal long term spatial reference memory|decreased anxiety-related response|decreased body weight|decreased brain weight|decreased grip strength|decreased hippocampus volume|decreased prepulse inhibition|decreased pro-B cell number|decreased startle reflex|decreased vocalization|enhanced NMDA-mediated synaptic currents|enhanced long term potentiation|impaired balance|impaired contextual conditioning behavior|impaired cued conditioning behavior|impaired spatial learning|increased double-negative T cell number|increased grooming behavior|increased locomotor activity|increased prepulse inhibition|increased startle reflex|microcephaly|neonatal lethality complete penetrance|postnatal lethality complete penetrance|social withdrawal|thin cerebral cortex,C57BL/6N|"",beta-catenin binding|bHLH transcription factor binding|"DNA-binding transcription activator activity, RNA polymerase II-specific"|E-box binding|positive regulation of neuron differentiation|protein dimerization activity|RNA polymerase II cis-regulatory region sequence-specific DNA binding|DNA binding|DNA-binding transcription factor activity|protein C-terminus binding|identical protein binding|sequence-specific double-stranded DNA binding|positive regulation of DNA-templated transcription|chromatin|nucleus|beta-catenin-TCF7L2 complex|beta-catenin-TCF complex|negative regulation of gene expression|protein binding|positive regulation of transcription by RNA polymerase II|negative regulation of transcription by RNA polymerase II|negative regulation of angiogenesis|chromatin binding|regulation of transcription by RNA polymerase II|nervous system development|"DNA-binding transcription factor activity, RNA polymerase II-specific"|cell differentiation|protein heterodimerization activity|regulation of DNA-templated transcription|transcription regulator complex|double-stranded DNA binding|transcription corepressor activity|protein self-association|endothelial cell activation|regulation of vascular endothelial growth factor signaling pathway|TFIIB-class transcription factor binding|protein-DNA complex assembly,signaling|DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity|organelle|chromosome|nucleus|anatomical structure development|cell differentiation|protein-containing complex assembly,""|R-MMU-525793|R-MMU-1266738,|204006,""|URS00009BBEAD,,""|alternative1|principal4,tslNA (assigned to previous version 1)|tsl1 (assigned to previous version 3)|tsl1 (assigned to previous version 7)|tsl1 (assigned to previous version 11)|tsl5 (assigned to previous version 3)|tsl1 (assigned to previous version 9)|tsl2 (assigned to previous version 1)|tsl5 (assigned to previous version 4)|tsl5 (assigned to previous version 12)|tsl5 (assigned to previous version 2)|tsl1 (assigned to previous version 4)|tsl3 (assigned to previous version 7)|tsl1 (assigned to previous version 8)|tsl5 (assigned to previous version 7)|tsl1 (assigned to previous version 1)|tsl2 (assigned to previous version 2)|tsl3 (assigned to previous version 3)|tsl5 (assigned to previous version 1)|tslNA (assigned to previous version 2),ENSMUSG00000053477
Trim24,chr6,37951468,37951468,1,+,coding,1724,1724,17,43820,78336,21848,,,"G|missense_variant|MODERATE|Trim24|ENSMUSG00000029833|Transcript|ENSMUST00000031859|protein_coding|11/19||||2024|1724|575|V/G|gTa/gGa|||1||MGI||tolerated(1)|6.860|",abnormal circulating alanine transaminase level|increased hepatocellular carcinoma incidence|increased hepatocyte proliferation|increased liver adenoma incidence|increased liver tumor incidence|polyploidy,"",zinc ion binding|protein binding|cellular response to estrogen stimulus|nucleus|sequence-specific DNA binding|positive regulation of gene expression|protein phosphorylation|chromatin binding|regulation of apoptotic process|cytoplasm|nucleoplasm|epithelial cell proliferation|negative regulation of epithelial cell proliferation|DNA binding|transferase activity|metal ion binding|protein ubiquitination|positive regulation of DNA-templated transcription|negative regulation of DNA-templated transcription|ubiquitin-protein transferase activity|transcription coactivator activity|p53 binding|calcium ion homeostasis|lysine-acetylated histone binding|male germ cell nucleus|euchromatin|protein catabolic process|ubiquitin protein ligase activity|regulation of protein stability|nuclear receptor binding|protein kinase activity|protein autophosphorylation|estrogen response element binding|perichromatin fibrils|regulation of signal transduction by p53 class mediator|regulation of vitamin D receptor signaling pathway,organelle|nucleus|DNA binding|protein modification process|programmed cell death|nucleoplasm|catalytic activity|transferase activity|DNA-templated transcription|regulation of DNA-templated transcription|"catalytic activity, acting on a protein"|transcription regulator activity|metal ion homeostasis|histone binding|chromosome|protein catabolic process|nuclear chromosome|signaling,"",204196|,"",,""|principal4|alternative2,tsl1 (assigned to previous version 7)|tsl2 (assigned to previous version 1)|tsl1 (assigned to previous version 13)|tsl3 (assigned to previous version 7)|tsl3 (assigned to previous version 1)|tsl1 (assigned to previous version 1),ENSMUSG00000029833
Ttc17,chr2,94333002,94333002,1,+,promoter,,,4,11435,,66457,,,"T|missense_variant|MODERATE|Ttc17|ENSMUSG00000027194|Transcript|ENSMUST00000111238|protein_coding|18/25||||2497|2473|825|E/K|Gaa/Aaa|||-1||MGI||tolerated_low_confidence(0.24)|4.210|","","",protein binding|molecular_function|cytosol|cytoplasm|membrane|plasma membrane|cell projection organization|cytoskeleton|actin cytoskeleton|cilium organization|actin filament polymerization,cytosol|plasma membrane|organelle|cytoskeleton|cilium organization|cytoskeleton organization|protein-containing complex assembly,"",216851|,"",,""|principal1,tsl5 (assigned to previous version 8)|tsl5 (assigned to previous version 4)|tsl3 (assigned to previous version 1)|tsl5 (assigned to previous version 7)|tsl1 (assigned to previous version 1)|tsl1 (assigned to previous version 13),ENSMUSG00000027194
Wdr60,chr12,116218785,116218785,1,+,promoter,,,35,96104,,,,,"G|missense_variant|MODERATE|Wdr60|ENSMUSG00000042050|Transcript|ENSMUST00000039349|protein_coding|15/22||||2353|2196|732|Q/H|caA/caC|||-1||MGI||deleterious(0.04)|0.756|",,,,,,,,,,,
Zfp111,chr7,24199022,24199022,1,+,promoter,,,19,52027,,,,,"A|missense_variant|MODERATE|Zfp111|ENSMUSG00000087598|Transcript|ENSMUST00000056683|protein_coding|2/2||||1235|1166|389|T/I|aCt/aTt|||-1||MGI||deleterious(0)|-0.892|",abnormal skin morphology|abnormal uterus morphology|hydrometra|preweaning lethality incomplete penetrance,C57BL/6NCrl|C57BL/6N|"",regulation of DNA-templated transcription|nucleus|metal ion binding|RNA polymerase II cis-regulatory region sequence-specific DNA binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|negative regulation of DNA-templated transcription,DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|DNA binding|transcription regulator activity,"",,"",,principal4|""|alternative2,tsl1 (assigned to previous version 11)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 13)|tsl1 (assigned to previous version 1)|tsl3 (assigned to previous version 1),ENSMUSG00000087598
Zfp111,chr7,24199037,24199037,1,+,promoter,,,20,52027,,,,,"G|missense_variant|MODERATE|Zfp111|ENSMUSG00000087598|Transcript|ENSMUST00000056683|protein_coding|2/2||||1220|1151|384|K/T|aAg/aCg|||-1||MGI||deleterious(0)|0.446|",abnormal skin morphology|abnormal uterus morphology|hydrometra|preweaning lethality incomplete penetrance,C57BL/6NCrl|C57BL/6N|"",regulation of DNA-templated transcription|nucleus|metal ion binding|RNA polymerase II cis-regulatory region sequence-specific DNA binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription factor activity, RNA polymerase II-specific"|negative regulation of DNA-templated transcription,DNA-templated transcription|regulation of DNA-templated transcription|organelle|nucleus|DNA binding|transcription regulator activity,"",,"",,principal4|""|alternative2,tsl1 (assigned to previous version 11)|tsl1 (assigned to previous version 2)|tsl5 (assigned to previous version 13)|tsl1 (assigned to previous version 1)|tsl3 (assigned to previous version 1),ENSMUSG00000087598
Zfp423,chr8,87662294,87662294,1,-,promoter,,,26,68888,,,,,"T|3_prime_UTR_variant|MODIFIER|Zfp423|ENSMUSG00000045333|Transcript|ENSMUST00000109655|protein_coding|8/8||||4423|||||||-1||MGI|||4.120|",decreased locomotor activity|increased circulating alkaline phosphatase level|persistence of hyaloid vascular system|preweaning lethality complete penetrance|abnormal Purkinje cell dendrite morphology|abnormal cerebellar cortex morphology|abnormal cerebellar granule cell precursor proliferation|abnormal cerebellar plate morphology|abnormal cerebellum development|abnormal cerebellum lateral hemisphere morphology|abnormal cerebellum morphology|abnormal cerebellum vermis morphology|abnormal choroid plexus morphology|abnormal corpus callosum morphology|abnormal food intake|abnormal forebrain morphology|abnormal gait|abnormal hippocampal commissure morphology|abnormal hippocampus morphology|abnormal interventricular foramen morphology|abnormal medulla oblongata morphology|abnormal motor coordination/ balance|abnormal nasal cavity morphology|abnormal olfactory bulb morphology|abnormal olfactory epithelium morphology|abnormal olfactory nerve morphology|abnormal telencephalon morphology|absent cerebellum|absent cerebellum vermis|absent corpus callosum|ataxia|cerebellum hypoplasia|cerebellum vermis hypoplasia|decreased Purkinje cell number|decreased body size|decreased body weight|decreased brain size|decreased hindbrain size|dehydration|dilated fourth ventricle|dilated lateral ventricle|ectopic Purkinje cell|enlarged fourth ventricle|enlarged lateral ventricles|lethality at weaning complete penetrance|lethality at weaning incomplete penetrance|neonatal lethality incomplete penetrance|no abnormal phenotype detected|postnatal lethality complete penetrance|postnatal lethality incomplete penetrance|premature death|reduced cerebellar foliation|small cerebellum|small olfactory bulb|small thalamus|tremors,C57BL/6NJ|"",nucleus|sequence-specific DNA binding|protein-containing complex binding|nucleoplasm|DNA binding|metal ion binding|regulation of transcription by RNA polymerase II|nervous system development|"DNA-binding transcription factor activity, RNA polymerase II-specific"|positive regulation of DNA-templated transcription|cell differentiation|protein binding|identical protein binding|Notch signaling pathway|negative regulation of DNA-templated transcription|negative regulation of cold-induced thermogenesis|cilium assembly|protein localization to cilium|positive regulation of BMP signaling pathway|cerebellar granule cell precursor proliferation|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|brown fat cell differentiation|white fat cell differentiation,organelle|nucleus|DNA binding|nucleoplasm|DNA-templated transcription|regulation of DNA-templated transcription|anatomical structure development|transcription regulator activity|cell differentiation|signaling|cilium organization,"",220465|,"",,principal1|"",tsl1 (assigned to previous version 8)|tsl1 (assigned to previous version 14)|tsl3 (assigned to previous version 1)|tsl3 (assigned to previous version 7)|tsl2 (assigned to previous version 1),ENSMUSG00000045333
Zfp770,chr2,114197543,114197543,1,+,promoter,,,5,11780,,,,,"C|missense_variant|MODERATE|Zfp770|ENSMUSG00000040321|Transcript|ENSMUST00000050668|protein_coding|2/2||||218|44|15|L/R|cTg/cGg|||-1||MGI||deleterious(0)|0.389|","","",nucleus|DNA binding|metal ion binding|RNA polymerase II cis-regulatory region sequence-specific DNA binding|regulation of transcription by RNA polymerase II|"DNA-binding transcription activator activity, RNA polymerase II-specific"|positive regulation of transcription by RNA polymerase II,organelle|nucleus|DNA binding|DNA-templated transcription|regulation of DNA-templated transcription|transcription regulator activity,R-MMU-73857|R-MMU-74160|R-MMU-212436,230737,"",,principal1|"",tsl1 (assigned to previous version 3)|tsl1 (assigned to previous version 1),ENSMUSG00000040321