Kcnh3 - SNV Details



 Gene Information 
Gene Name Kcnh3
Old Gene Names for Kcnh3 Au019351 , C030044p22rik
Gene Description potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:MGI Symbol;Acc:MGI:1341723]
MGI phenotype Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.
Uniprot Name
CCDS Name
Gene GO
phosphorelay signal transduction system; regulation of ion transmembrane transport; membrane; potassium ion transmembrane transport; regulation of transcription
DNA-templated; signal transduction; protein binding; ion channel activity; phosphorelay sensor kinase activity; ion transport; voltage-gated potassium channel activity; transmembrane transport; integral component of plasma membrane; signal transducer activity; regulation of membrane potential; signal transduction by phosphorylation
Homolog in other species KCNH3
Omim http://omim.org/entry/604527
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037579
Chromosome 15
Coordinate 99,242,473     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 40
Allele Frequency
A:R0.62
T:V0.35
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL00155
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.07
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved