Kcnq4 - SNV Details



 Human Rare Diseases 
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

 Gene Information 
Gene Name Kcnq4
Gene Description potassium voltage-gated channel, subfamily Q, member 4 [Source:MGI Symbol;Acc:MGI:1926803]
Uniprot Name
CCDS Name
Gene GO
regulation of ion transmembrane transport; membrane; potassium ion transmembrane transport; delayed rectifier potassium channel activity; integral component of membrane; inner ear morphogenesis; ion channel activity; sensory perception of sound; ion transport; voltage-gated potassium channel activity; basal plasma membrane; transmembrane transport; voltage-gated potassium channel complex; potassium ion transport
Homolog in other species KCNQ4
Omim http://omim.org/entry/603537
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028631
Chromosome 4
Coordinate 120,698,016     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 52
Allele Frequency
G:R0.62
A:V0.38
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL00310
Median Base Quality 34
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 11 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved