Mutagenetix > Incidental Mutation

Incidental Mutation 'R7520:Kcnu1'

582629

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Slo3, Kcnma3

MMRRC Submission

045592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26375368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 361 (N361Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098858
AA Change: N361Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: N361Y

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

Meta Mutation Damage Score

0.2945

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,281,859 (GRCm39)	Y311C	probably damaging	Het
Abca1	A	T	4: 53,078,114 (GRCm39)	I886N	probably benign	Het
Adamts6	A	G	13: 104,433,694 (GRCm39)	H41R	probably benign	Het
Adck1	T	C	12: 88,425,975 (GRCm39)		probably null	Het
Atat1	G	T	17: 36,208,706 (GRCm39)	T398K	probably benign	Het
Bahcc1	A	G	11: 120,167,031 (GRCm39)	E1144G	possibly damaging	Het
Cand2	G	T	6: 115,762,212 (GRCm39)	E213*	probably null	Het
Cep350	A	G	1: 155,791,375 (GRCm39)	S1250P	probably benign	Het
Cln3	A	G	7: 126,180,852 (GRCm39)	L63P	probably damaging	Het
Col4a4	A	T	1: 82,484,808 (GRCm39)	C486*	probably null	Het
Ctnnal1	A	T	4: 56,837,838 (GRCm39)	M264K	probably damaging	Het
Ddr2	T	A	1: 169,812,008 (GRCm39)	D738V	probably damaging	Het
Dnah6	T	C	6: 73,104,887 (GRCm39)	M1901V	probably benign	Het
Dnhd1	A	G	7: 105,345,255 (GRCm39)	T2200A	probably benign	Het
Dolk	A	G	2: 30,174,555 (GRCm39)	Y497H	probably benign	Het
Drd5	T	C	5: 38,478,195 (GRCm39)	V396A	probably benign	Het
Epsti1	A	T	14: 78,200,883 (GRCm39)		probably null	Het
Erich3	A	G	3: 154,468,763 (GRCm39)	T1072A	unknown	Het
Ero1a	A	T	14: 45,544,032 (GRCm39)	N57K	probably damaging	Het
Exph5	T	C	9: 53,278,514 (GRCm39)		probably null	Het
Frmd5	C	T	2: 121,384,745 (GRCm39)		probably null	Het
H2-Q7	A	G	17: 35,661,686 (GRCm39)	T310A	probably benign	Het
Hecw2	G	T	1: 53,965,215 (GRCm39)	A537E	probably benign	Het
Itga4	A	T	2: 79,131,333 (GRCm39)	D567V	probably damaging	Het
Keap1	A	G	9: 21,144,787 (GRCm39)	S408P	probably benign	Het
Mamdc4	T	A	2: 25,455,360 (GRCm39)	I928F	possibly damaging	Het
Mboat4	T	C	8: 34,591,028 (GRCm39)	F155S	probably benign	Het
Mtbp	A	G	15: 55,440,742 (GRCm39)		probably benign	Het
Nmi	T	G	2: 51,842,492 (GRCm39)	K200T	probably benign	Het
Or2n1e	G	A	17: 38,586,331 (GRCm39)	C223Y	probably benign	Het
Or8g19	G	T	9: 39,055,414 (GRCm39)	R6L	probably benign	Het
Pcdha7	G	A	18: 37,108,366 (GRCm39)	V464M	probably damaging	Het
Peg10	T	A	6: 4,756,796 (GRCm39)	N457K	unknown	Het
Plekha7	A	T	7: 115,736,519 (GRCm39)	I944N	possibly damaging	Het
Plpp1	T	A	13: 112,937,781 (GRCm39)	D13E	possibly damaging	Het
Pnpla6	G	T	8: 3,587,508 (GRCm39)	V1070F	probably damaging	Het
Riox1	T	A	12: 83,998,545 (GRCm39)	Y360*	probably null	Het
Sdhb	A	G	4: 140,693,882 (GRCm39)	D50G	possibly damaging	Het
Slc35f2	T	A	9: 53,708,385 (GRCm39)	V126D	possibly damaging	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Snap91	T	A	9: 86,721,702 (GRCm39)	I46F	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar7b	T	C	10: 23,876,381 (GRCm39)	L182P	probably damaging	Het
Tmc1	T	A	19: 20,776,542 (GRCm39)	M606L	probably damaging	Het
Trpm8	T	A	1: 88,271,043 (GRCm39)	D444E	probably benign	Het
Tsen54	A	G	11: 115,711,797 (GRCm39)	T405A	probably damaging	Het
Ttll5	T	C	12: 85,946,245 (GRCm39)	W492R	probably damaging	Het
Ttn	T	A	2: 76,728,123 (GRCm39)	T5566S	unknown	Het
Utp20	A	T	10: 88,654,457 (GRCm39)	M210K	probably damaging	Het
Zfand1	A	G	3: 10,411,009 (GRCm39)	V115A	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
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
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'- GTTACATGCAAGCTTGTGTCA -3'
(R):5'- CAACAGATGTGCTTTCGTGAAA -3'

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

Posted On

2019-10-17