Mutagenetix > Incidental Mutation

Incidental Mutation 'R3840:Kcnu1'

277113

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Slo3, Kcnma3

MMRRC Submission

040780-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3840 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26375380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 365 (V365L)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098858]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098858
AA Change: V365L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: V365L

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
Pfam:Ion_trans	101	323	6.9e-21	PFAM
Pfam:Ion_trans_2	229	317	4.7e-12	PFAM
low complexity region	367	380	N/A	INTRINSIC
Pfam:BK_channel_a	462	557	1.2e-28	PFAM
low complexity region	670	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210273

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

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

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,104 (GRCm39)	K11N	probably benign	Het
Abcc8	A	G	7: 45,757,524 (GRCm39)	I1375T	possibly damaging	Het
Ate1	A	T	7: 130,117,867 (GRCm39)	D39E	probably damaging	Het
BC035947	G	T	1: 78,474,482 (GRCm39)	N683K	probably benign	Het
Cdca2	A	T	14: 67,917,720 (GRCm39)	Y559*	probably null	Het
Cmya5	A	G	13: 93,231,140 (GRCm39)	V1316A	probably damaging	Het
Cntnap5b	C	T	1: 100,311,202 (GRCm39)	T936I	possibly damaging	Het
Col6a5	T	C	9: 105,805,810 (GRCm39)	N1032S	unknown	Het
Cracd	A	T	5: 77,006,858 (GRCm39)	Q1073L	unknown	Het
Epc2	A	G	2: 49,378,750 (GRCm39)	K68R	probably damaging	Het
Erbb3	A	T	10: 128,406,193 (GRCm39)	F1075I	probably benign	Het
F11r	G	T	1: 171,288,457 (GRCm39)	R100L	probably damaging	Het
Fam171b	C	A	2: 83,710,406 (GRCm39)	Q693K	possibly damaging	Het
Fam83c	C	T	2: 155,676,668 (GRCm39)	R34H	probably benign	Het
Fmn2	GAAGA	GAAGAAAGA	1: 174,409,599 (GRCm39)		probably null	Het
Gask1b	T	A	3: 79,815,897 (GRCm39)	D302E	probably benign	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Hsph1	T	A	5: 149,544,180 (GRCm39)		probably null	Het
Jhy	T	A	9: 40,856,142 (GRCm39)	E115V	probably benign	Het
Lrrc4c	A	G	2: 97,460,537 (GRCm39)	T388A	probably damaging	Het
Mastl	T	C	2: 23,030,563 (GRCm39)	D202G	probably damaging	Het
Medag	T	A	5: 149,350,888 (GRCm39)	I121N	probably damaging	Het
Mideas	T	C	12: 84,218,383 (GRCm39)	R526G	probably damaging	Het
Mocos	C	T	18: 24,809,681 (GRCm39)	A428V	probably damaging	Het
Mok	C	T	12: 110,781,591 (GRCm39)	V59M	probably benign	Het
Neb	C	A	2: 52,097,672 (GRCm39)		probably null	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or10al7	A	G	17: 38,366,239 (GRCm39)	S73P	probably damaging	Het
Or52s1	G	A	7: 102,861,900 (GRCm39)	G267R	probably damaging	Het
Otud1	G	T	2: 19,663,554 (GRCm39)	E228*	probably null	Het
Pcdhga11	A	T	18: 37,890,602 (GRCm39)	N537Y	probably damaging	Het
Pkd1l1	T	C	11: 8,839,050 (GRCm39)	Y878C	probably damaging	Het
Podxl	C	T	6: 31,500,016 (GRCm39)	V485I	probably damaging	Het
Psmd12	T	C	11: 107,376,398 (GRCm39)	I44T	probably benign	Het
Rap1gap	T	C	4: 137,444,758 (GRCm39)	F182S	probably damaging	Het
Slc22a13	T	C	9: 119,037,855 (GRCm39)	D91G	probably benign	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Snap91	C	T	9: 86,721,618 (GRCm39)	V74M	probably damaging	Het
Tmem87b	T	A	2: 128,668,304 (GRCm39)	L150*	probably null	Het
Tmprss7	T	A	16: 45,481,195 (GRCm39)	R664*	probably null	Het
Tnfrsf11b	T	A	15: 54,115,478 (GRCm39)	H373L	probably damaging	Het
Tnfrsf23	A	G	7: 143,235,266 (GRCm39)	S33P	probably benign	Het
Tro	A	G	X: 149,429,198 (GRCm39)		probably benign	Het
Tulp1	A	G	17: 28,572,689 (GRCm39)	V489A	probably damaging	Het
Wac	C	A	18: 7,918,535 (GRCm39)	P416H	probably damaging	Het
Zap70	T	A	1: 36,817,498 (GRCm39)	I247N	probably damaging	Het
Zfp617	G	A	8: 72,685,961 (GRCm39)	G97E	probably damaging	Het

Other mutations in Kcnu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Kcnu1	APN	8	26,387,884 (GRCm39)	missense	probably benign	0.00
IGL00580:Kcnu1	APN	8	26,355,691 (GRCm39)	missense	probably benign	0.04
IGL00675:Kcnu1	APN	8	26,341,877 (GRCm39)	missense	probably benign
IGL00928:Kcnu1	APN	8	26,339,763 (GRCm39)	missense	probably damaging	1.00
IGL01324:Kcnu1	APN	8	26,339,735 (GRCm39)	missense	probably benign	0.22
IGL01346:Kcnu1	APN	8	26,424,551 (GRCm39)	splice site	probably benign
IGL01361:Kcnu1	APN	8	26,376,796 (GRCm39)	missense	possibly damaging	0.78
IGL01651:Kcnu1	APN	8	26,351,123 (GRCm39)	missense	probably damaging	1.00
IGL01795:Kcnu1	APN	8	26,403,733 (GRCm39)	missense	probably damaging	1.00
IGL01800:Kcnu1	APN	8	26,427,528 (GRCm39)	missense	probably damaging	1.00
IGL01975:Kcnu1	APN	8	26,424,525 (GRCm39)	missense	probably benign	0.29
IGL02103:Kcnu1	APN	8	26,395,976 (GRCm39)	missense	possibly damaging	0.83
IGL02109:Kcnu1	APN	8	26,427,727 (GRCm39)	missense	possibly damaging	0.66
IGL02127:Kcnu1	APN	8	26,382,090 (GRCm39)	missense	probably damaging	1.00
IGL02170:Kcnu1	APN	8	26,427,588 (GRCm39)	missense	probably damaging	1.00
IGL02217:Kcnu1	APN	8	26,348,212 (GRCm39)	missense	probably damaging	1.00
IGL02385:Kcnu1	APN	8	26,422,298 (GRCm39)	missense	probably damaging	1.00
IGL02493:Kcnu1	APN	8	26,427,548 (GRCm39)	missense	possibly damaging	0.68
IGL02883:Kcnu1	APN	8	26,339,855 (GRCm39)	missense	probably benign
IGL02884:Kcnu1	APN	8	26,411,556 (GRCm39)	missense	probably damaging	1.00
IGL03022:Kcnu1	APN	8	26,427,614 (GRCm39)	missense	probably damaging	0.98
IGL03281:Kcnu1	APN	8	26,382,105 (GRCm39)	missense	probably null	1.00
IGL03345:Kcnu1	APN	8	26,371,321 (GRCm39)	splice site	probably benign
P0026:Kcnu1	UTSW	8	26,382,150 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Kcnu1	UTSW	8	26,396,021 (GRCm39)	missense	probably benign
R0001:Kcnu1	UTSW	8	26,349,298 (GRCm39)	missense	probably damaging	1.00
R0419:Kcnu1	UTSW	8	26,427,646 (GRCm39)	missense	probably benign	0.13
R0518:Kcnu1	UTSW	8	26,400,916 (GRCm39)	missense	probably damaging	1.00
R0521:Kcnu1	UTSW	8	26,400,916 (GRCm39)	missense	probably damaging	1.00
R0581:Kcnu1	UTSW	8	26,427,529 (GRCm39)	missense	probably damaging	1.00
R0840:Kcnu1	UTSW	8	26,403,712 (GRCm39)	start codon destroyed	probably null	1.00
R1282:Kcnu1	UTSW	8	26,395,985 (GRCm39)	missense	probably benign	0.02
R1556:Kcnu1	UTSW	8	26,351,219 (GRCm39)	critical splice donor site	probably null
R1600:Kcnu1	UTSW	8	26,339,821 (GRCm39)	missense	probably damaging	1.00
R2011:Kcnu1	UTSW	8	26,408,470 (GRCm39)	missense	probably benign	0.03
R2035:Kcnu1	UTSW	8	26,386,721 (GRCm39)	missense	probably benign	0.35
R2082:Kcnu1	UTSW	8	26,411,577 (GRCm39)	missense	probably damaging	1.00
R2132:Kcnu1	UTSW	8	26,341,928 (GRCm39)	missense	probably damaging	0.99
R2415:Kcnu1	UTSW	8	26,400,906 (GRCm39)	missense	probably benign
R2513:Kcnu1	UTSW	8	26,395,994 (GRCm39)	missense	probably benign	0.00
R3712:Kcnu1	UTSW	8	26,371,448 (GRCm39)	missense	probably damaging	1.00
R3749:Kcnu1	UTSW	8	26,376,798 (GRCm39)	missense	probably null	0.01
R3874:Kcnu1	UTSW	8	26,375,345 (GRCm39)	missense	probably damaging	1.00
R4184:Kcnu1	UTSW	8	26,352,445 (GRCm39)	missense	probably damaging	1.00
R4576:Kcnu1	UTSW	8	26,380,048 (GRCm39)	missense	probably benign	0.06
R4658:Kcnu1	UTSW	8	26,427,583 (GRCm39)	missense	probably damaging	1.00
R4667:Kcnu1	UTSW	8	26,400,949 (GRCm39)	missense	possibly damaging	0.69
R4791:Kcnu1	UTSW	8	26,403,780 (GRCm39)	missense	probably damaging	1.00
R4940:Kcnu1	UTSW	8	26,387,890 (GRCm39)	splice site	probably null
R5120:Kcnu1	UTSW	8	26,424,516 (GRCm39)	missense	possibly damaging	0.79
R5314:Kcnu1	UTSW	8	26,352,486 (GRCm39)	missense	probably damaging	0.97
R5712:Kcnu1	UTSW	8	26,409,678 (GRCm39)	missense	probably damaging	1.00
R5807:Kcnu1	UTSW	8	26,339,742 (GRCm39)	missense	possibly damaging	0.78
R6237:Kcnu1	UTSW	8	26,422,362 (GRCm39)	missense	probably benign
R6260:Kcnu1	UTSW	8	26,341,919 (GRCm39)	missense	probably damaging	1.00
R6360:Kcnu1	UTSW	8	26,351,208 (GRCm39)	missense	possibly damaging	0.73
R6612:Kcnu1	UTSW	8	26,408,344 (GRCm39)	missense	probably benign	0.10
R6708:Kcnu1	UTSW	8	26,427,739 (GRCm39)	missense	probably benign
R6765:Kcnu1	UTSW	8	26,403,673 (GRCm39)	missense	probably damaging	1.00
R6816:Kcnu1	UTSW	8	26,427,762 (GRCm39)	nonsense	probably null
R7030:Kcnu1	UTSW	8	26,408,491 (GRCm39)	missense	probably benign	0.00
R7202:Kcnu1	UTSW	8	26,409,609 (GRCm39)	splice site	probably null
R7208:Kcnu1	UTSW	8	26,409,665 (GRCm39)	nonsense	probably null
R7411:Kcnu1	UTSW	8	26,382,116 (GRCm39)	missense	probably damaging	1.00
R7520:Kcnu1	UTSW	8	26,375,368 (GRCm39)	missense	probably damaging	1.00
R7579:Kcnu1	UTSW	8	26,386,686 (GRCm39)	missense	probably damaging	1.00
R7968:Kcnu1	UTSW	8	26,400,898 (GRCm39)	missense	probably benign
R8305:Kcnu1	UTSW	8	26,382,018 (GRCm39)	missense	probably benign	0.21
R8443:Kcnu1	UTSW	8	26,382,092 (GRCm39)	missense	probably damaging	1.00
R8694:Kcnu1	UTSW	8	26,342,101 (GRCm39)	unclassified	probably benign
R8730:Kcnu1	UTSW	8	26,403,708 (GRCm39)	missense	probably damaging	1.00
R9173:Kcnu1	UTSW	8	26,390,074 (GRCm39)	critical splice donor site	probably null
R9285:Kcnu1	UTSW	8	26,381,611 (GRCm39)	missense	probably damaging	0.99
R9291:Kcnu1	UTSW	8	26,390,041 (GRCm39)	missense	probably benign
R9340:Kcnu1	UTSW	8	26,376,786 (GRCm39)	missense	possibly damaging	0.93
R9470:Kcnu1	UTSW	8	26,409,660 (GRCm39)	missense	probably benign	0.13
R9556:Kcnu1	UTSW	8	26,348,154 (GRCm39)	missense	probably damaging	1.00
R9616:Kcnu1	UTSW	8	26,403,675 (GRCm39)	frame shift	probably null
Z1177:Kcnu1	UTSW	8	26,339,792 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTACATGCAAGCTTGTGTC -3'
(R):5'- CATTGAATGCCACAACAGATGT -3'

Sequencing Primer
(F):5'- AGCTTGTGTCATTTTAATTGAGGAC -3'
(R):5'- GTGCTTTCGTGAAATTTACAGC -3'

Posted On

2015-04-06