Klhdc7a - SNV Details



 Gene Information 
Gene Name Klhdc7a
Old Gene Names for Klhdc7a B230308g19rik
Gene Description kelch domain containing 7A [Source:MGI Symbol;Acc:MGI:2444612]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; protein binding; cellular_component; biological_process; molecular_function
Homolog in other species KLHDC7A
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 THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000078234
Chromosome 4
Coordinate 139,966,814     (Assembly: GRCm38)    
Ref Base A
Codon Change aTa/aCa
Var Base G
Zygosity Heterozygous
Read Depth 75
Allele Frequency
A:R0.53
G:V0.45
Amino Acid Position 274
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01593
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability