Kcnk1 - SNV Details



 Gene Information 
Gene Name Kcnk1
Old Gene Names for Kcnk1 Ai788889
Gene Description potassium channel, subfamily K, member 1 [Source:MGI Symbol;Acc:MGI:109322]
Uniprot Name
CCDS Name
Gene GO
membrane; potassium ion transmembrane transport; integral to membrane; potassium channel activity; apical plasma membrane; cytoplasm; response to nicotine; voltage-gated ion channel activity; endosome; brush border membrane; potassium ion transport
Homolog in other species KCNK1
Omim http://omim.org/entry/601745
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, C2C12, UMBLICALCORD, NIH.3T3, OSTEO GROUP, EPITH GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033998
Chromosome 8
Coordinate 126,025,080     (Assembly: GRCm38)    
Ref Base A
Codon Change Atc/Gtc
Var Base G
Zygosity Heterozygous
Read Depth 48
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Position 142
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02447
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.69
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000046103:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
2pore_dom_K_chnl_TASK/TWIK IPR022306 ENSMUSP00000046103 PIRSF 1
336

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved