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
ubiquitin-protein transferase activity; membrane; RNA binding; cytoplasm; protein polyubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; zinc ion binding; positive regulation of catenin import into nucleus; ubiquitin binding; positive regulation of canonical Wnt signaling pathway; protein binding; positive regulation of protein import into nucleus
translocation; nucleus; negative regulation of histone H2A K63-linked ubiquitination; ligase activity; cellular response to DNA damage stimulus; 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 38,002,314     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 52
Allele Frequency
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02679
Median Base Quality 37
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

Polyphen Score 0.27
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved