Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4677001:Kcnu1'

556555

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Slo3, Kcnma3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4677001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26396021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 669 (I669V)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098858
AA Change: I669V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: I669V

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

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.5%
20x: 71.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	A	2: 127,028,933 (GRCm39)	T89S	probably benign	Het
4921517D22Rik	A	T	13: 59,838,305 (GRCm39)	F176I	probably benign	Het
Acsm3	A	G	7: 119,374,340 (GRCm39)	D264G	probably damaging	Het
Adamts12	T	A	15: 11,286,896 (GRCm39)	F834I	probably benign	Het
Arhgap45	A	T	10: 79,856,583 (GRCm39)	M171L	probably benign	Het
Arid5b	A	T	10: 67,933,841 (GRCm39)	M687K	probably damaging	Het
AU040320	A	T	4: 126,686,030 (GRCm39)	Q202L	probably benign	Het
Ccdc47	A	G	11: 106,099,034 (GRCm39)	L219P	probably damaging	Het
Cfhr2	T	G	1: 139,733,117 (GRCm39)	S301R	unknown	Het
Cog2	T	A	8: 125,272,010 (GRCm39)	V508E	probably benign	Het
Cpb2	A	G	14: 75,493,463 (GRCm39)	T47A	probably benign	Het
Ddx60	A	T	8: 62,425,288 (GRCm39)	K692I	possibly damaging	Het
Defb34	A	T	8: 19,176,412 (GRCm39)	R34S	possibly damaging	Het
Fads2	A	T	19: 10,047,694 (GRCm39)	I275N	probably damaging	Het
Fmn2	T	G	1: 174,474,699 (GRCm39)	S1221A	probably damaging	Het
Fndc3a	A	T	14: 72,812,035 (GRCm39)	V302E	probably benign	Het
Galntl6	C	T	8: 58,310,621 (GRCm39)	C360Y	probably damaging	Het
Gm16519	A	T	17: 71,236,506 (GRCm39)	I152F	probably benign	Het
Hnrnpr	T	A	4: 136,056,750 (GRCm39)	V250D	probably damaging	Het
Hs3st6	A	G	17: 24,977,285 (GRCm39)	D255G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,113 (GRCm39)	Y657H	possibly damaging	Het
Ino80	C	T	2: 119,208,026 (GRCm39)	V1422M	probably benign	Het
Insyn2b	A	T	11: 34,353,122 (GRCm39)	N388I	probably benign	Het
Layn	A	T	9: 50,968,711 (GRCm39)	V344E	probably damaging	Het
Mgll	A	T	6: 88,802,663 (GRCm39)	R273W	possibly damaging	Het
Myh2	G	A	11: 67,072,818 (GRCm39)	S636N	probably benign	Het
Nmur2	A	T	11: 55,923,835 (GRCm39)	S240T	probably benign	Het
Pkd1	T	G	17: 24,793,003 (GRCm39)	S1563R	possibly damaging	Het
Ppp4r3b	G	A	11: 29,137,978 (GRCm39)	V109I	probably benign	Het
Prdm2	A	T	4: 142,861,648 (GRCm39)	D547E	probably damaging	Het
Prss46	A	T	9: 110,685,098 (GRCm39)	M241L	probably benign	Het
Ptprf	T	A	4: 118,070,809 (GRCm39)	I1397F	probably damaging	Het
Pus10	A	T	11: 23,670,171 (GRCm39)	T418S	possibly damaging	Het
Qsox2	T	C	2: 26,112,320 (GRCm39)	D74G	probably damaging	Het
Sctr	T	C	1: 119,989,634 (GRCm39)	V383A	probably damaging	Het
Siglec1	T	A	2: 130,914,677 (GRCm39)	N1480Y	probably damaging	Het
Skint2	T	C	4: 112,483,135 (GRCm39)	I180T	probably benign	Het
Snd1	A	G	6: 28,880,295 (GRCm39)	I690V	probably benign	Het
Spire1	T	C	18: 67,624,435 (GRCm39)	T575A	probably damaging	Het
Srbd1	G	A	17: 86,422,640 (GRCm39)	R459*	probably null	Het
Tll2	C	A	19: 41,118,997 (GRCm39)	V244L	probably benign	Het
Tmem60	A	G	5: 21,091,366 (GRCm39)	I44V	probably benign	Het
Utrn	T	A	10: 12,542,448 (GRCm39)	I1846F	probably benign	Het
Vinac1	T	C	2: 128,880,636 (GRCm39)	D430G		Het
Vps8	T	C	16: 21,319,084 (GRCm39)	F641S	possibly 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
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
R3840:Kcnu1	UTSW	8	26,375,380 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2019-06-07