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 37,973,006     (Assembly: GRCm38)    
Ref Base A
Codon Change aTt/aAt
Var Base T
Zygosity Heterozygous
Read Depth 130
Allele Frequency
Amino Acid Position 2617
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01359
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

Polyphen Score 0.34
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
HECT HECT IPR000569 ENSMUSP00000105965 Superfamily 2466
2794 Description available Search pathways
HECT HECT IPR000569 ENSMUSP00000105965 Pfam 2501
2797 Description available Search pathways
HECT HECT IPR000569 ENSMUSP00000105965 Prosite_profiles 2503
2798 Description available Search pathways
HECT HECT IPR000569 ENSMUSP00000105965 Smart 2432
2798 Description available Search pathways

 Availability Details 
Availability Cryopreserved