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; cytoplasm; zinc ion binding; ubiquitin-protein ligase activity; nucleoside-triphosphatase activity; protein binding; protein ubiquitination; nucleotide binding; protein autoubiquitination; ATP binding; 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 119,416,536     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 54
Allele Frequency
G:R0.54
T:V0.46
Amino Acid Change C->F (Cysteine -> Phenylalanine)
Sample ID IGL02588
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved