Klhl40 - SNV Details



 Gene Information 
Gene Name Klhl40
Old Gene Names for Klhl40 Kbtbd5 , 2310024d23rik
Gene Description kelch-like 40 [Source:MGI Symbol;Acc:MGI:1919580]
Uniprot Name
CCDS Name
Gene GO
A band; protein binding; cellular_component; biological_process; multicellular organismal development; molecular_function
Homolog in other species KLHL40
Omim http://omim.org/entry/615340
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074001
Chromosome 9
Coordinate 121,778,137     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.65
A:V0.35
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL03059
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved