|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily U, member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6260 (G1)|
|Chromosomal Location||25849623-25937939 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 25851891 bp|
|Amino Acid Change||Arginine to Histidine at position 88 (R88H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096457 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000110610]|
|Predicted Effect||probably damaging
AA Change: R88H
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R88H
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous male mutants are infertile with impaired sperm capacitation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnu1||
(F):5'- TTAATAGCATGATAAGCACCTCCC -3'
(R):5'- TCCTACATGCAGGGCTTGATG -3'
(F):5'- TTAAGCTCCTCCCTCAACCTGAAG -3'
(R):5'- GGCTTGATGTAGCTAAGACCACC -3'