Rnf213 - SNV Details



 Gene Information 
Gene Name Rnf213
Old Gene Names for Rnf213 D11ertd759e
Gene Description ring finger protein 213 [Source:MGI Symbol;Acc:MGI:1289196]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; ubiquitin-protein transferase activity; membrane; cytoplasm; zinc ion binding; nucleoside-triphosphatase activity; protein binding; protein ubiquitination; nucleotide binding; protein autoubiquitination; ATP binding; ligase activity; ATP catabolic process
Homolog in other species RNF213
Omim http://omim.org/entry/613768
Immgen Expression
HIGH(LOWER IN BCELL GROUP, T.DPSM.TH, DC.LC.SK, MF.THIO5.II-480HI.PC)
HIGH(LOWER IN BCELL GROUP, T.DPSM.TH, DC.LC.SK, MF.THIO5.II-480HI.PC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000070327
Chromosome 11
Coordinate 119,427,510     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.61
T:V0.39
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL02887
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 87 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved