Ubr5 - SNV Details

 Gene Information 
Gene Name Ubr5
Old Gene Names for Ubr5 C77315 , 4432411e13rik , Aw549941 , Edd1
Gene Description ubiquitin protein ligase E3 component n-recognin 5 [Source:MGI Symbol;Acc:MGI:1918040]
MGI phenotype Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis.
Uniprot Name
Gene GO
positive regulation of canonical Wnt receptor signaling pathway; RNA binding; cytoplasm; protein polyubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; intracellular; zinc ion binding; positive regulation of catenin import into nucleus; ubiquitin binding; cellular protein modification process; ubiquitin-protein ligase activity; protein binding; positive regulation of protein import into nucleus
translocation; nucleus; response to DNA damage stimulus; negative regulation of histone H2A K63-linked ubiquitination; negative regulation of double-strand break repair; ubiquitin-ubiquitin ligase activity; progesterone receptor signaling pathway
Homolog in other species UBR5
Omim http://omim.org/entry/608413
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037487
Chromosome 15
Coordinate 38,024,894     (Assembly: GRCm38)    
Ref Base G
Codon Change gCg/gAg
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
Amino Acid Position 546
Amino Acid Change A->E (Alanine -> Glutamic acid)
Sample ID IGL02252
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved