Rnf31 - SNV Details



 Gene Information 
Gene Name Rnf31
Old Gene Names for Rnf31 Bc031509 , Al033293
Gene Description ring finger protein 31 [Source:MGI Symbol;Acc:MGI:1934704]
Uniprot Name
CCDS Name
Gene GO
ubiquitin-protein transferase activity; protein polyubiquitination; LUBAC complex; positive regulation of NF-kappaB transcription factor activity; negative regulation of necroptotic process; positive regulation of I-kappaB kinase/NF-kappaB signaling; zinc ion binding; CD40 signaling pathway; ubiquitin binding; cytoplasmic side of plasma membrane; protein binding; protein ubiquitination; protein linear polyubiquitination; CD40 receptor complex; cytosol; ligase activity; T cell receptor signaling pathway
Homolog in other species RNF31
Omim http://omim.org/entry/612487
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047098
Chromosome 14
Coordinate 55,595,674     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 83
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02939
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved