Tmc2 - SNV Details



 Gene Information 
Gene Name Tmc2
Gene Description transmembrane channel-like gene family 2 [Source:MGI Symbol;Acc:MGI:2151017]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; stereocilium bundle tip; detection of mechanical stimulus involved in sensory perception of sound; vestibular reflex; molecular_function
Homolog in other species TMC2
Omim http://omim.org/entry/606707
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
LOW
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000060332
Chromosome 2
Coordinate 130,229,206     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.59
G:V0.41
Amino Acid Position 285
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02273
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved