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
CCDS 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
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037487
Chromosome 15
Coordinate 37,985,934     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.33
T:V0.67
Amino Acid Change F->I (Phenylalanine -> Isoleucine)
Sample ID IGL00962
Median Base Quality 39.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved