Msrb3 - SNV Details



 Human Rare Diseases 
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

 Gene Information 
Gene Name Msrb3
Old Gene Names for Msrb3 D430026p16rik
Gene Description methionine sulfoxide reductase B3 [Source:MGI Symbol;Acc:MGI:2443538]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; peptide-methionine (R)-S-oxide reductase activity; endoplasmic reticulum; zinc ion binding; protein repair; oxidoreductase activity
acting on a sulfur group of donors
disulfide as acceptor
Homolog in other species MSRB3
Omim http://omim.org/entry/613719
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051236
Chromosome 10
Coordinate 120,850,001     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 37
Allele Frequency
C:R0.49
T:V0.51
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL02546
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved