Kcnu1 - SNV Details



 Gene Information 
Gene Name Kcnu1
Old Gene Names for Kcnu1 Kcnma3
Gene Description potassium channel, subfamily U, member 1 [Source:MGI Symbol;Acc:MGI:1202300]
MGI phenotype Homozygous male mutants are infertile with impaird sperm capacitation.
Uniprot Name
CCDS Name
Gene GO
membrane; potassium ion transmembrane transport; large conductance calcium-activated potassium channel activity; ion channel activity; calcium-activated potassium channel activity; ion transport; voltage-gated potassium channel activity; nucleotide binding; transmembrane transport; voltage-gated potassium channel complex; potassium ion transport
Homolog in other species KCNU1
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031576
Chromosome 8
Coordinate 25,905,948     (Assembly: GRCm38)    
Ref Base T
Codon Change Tca/Cca
Var Base C
Zygosity Heterozygous
Read Depth 43
Allele Frequency
T:R0.58
C:V0.42
Amino Acid Position 654
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02103
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Sift Score 0.11
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved