Rfwd3 - SNV Details



 Gene Information 
Gene Name Rfwd3
Old Gene Names for Rfwd3 Bc027246
Gene Description ring finger and WD repeat domain 3 [Source:MGI Symbol;Acc:MGI:2384584]
Uniprot Name
CCDS Name
Gene GO
response to ionizing radiation; ubiquitin-protein transferase activity; cytoplasm; metal ion binding; DNA repair; zinc ion binding; regulation of DNA damage checkpoint; protein binding; protein ubiquitination; PML body; nucleus; MDM2/MDM4 family protein binding; p53 binding; site of double-strand break; mitotic G1 DNA damage checkpoint; ligase activity
Homolog in other species RFWD3
Omim http://omim.org/entry/614151
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033596
Chromosome 8
Coordinate 111,278,229     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02903
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.18
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved