Klhdc2 - SNV Details



 Gene Information 
Gene Name Klhdc2
Old Gene Names for Klhdc2 2310022k15rik , D12ertd522e
Gene Description kelch domain containing 2 [Source:MGI Symbol;Acc:MGI:1916804]
Uniprot Name
CCDS Name
Gene GO
protein binding; nucleus; cellular_component; biological_process
Homolog in other species KLHDC2
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020978
Chromosome 12
Coordinate 69,300,279     (Assembly: GRCm38)    
Ref Base A
Codon Change Atg/Gtg
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.61
G:V0.39
Amino Acid Position 73
Amino Acid Change M->V (Methionine -> Valine)
Sample ID IGL01735
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.03
Sift Prediction deleterious

 Availability Details 
Availability Line Propagating , Cryopreserved