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 139,966,550     (Assembly: GRCm38)    
Ref Base A
Codon Change cTc/cCc
Var Base G
Zygosity Heterozygous
Read Depth 21
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 362
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL01719
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved