Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Kcnu1'

383007

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Kcnma3, Slo3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25849623-25937939 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 25897862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098858

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576

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: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,737,636	H134R	possibly damaging	Het
3632451O06Rik	A	T	14: 49,773,482	M256K	probably benign	Het
4931414P19Rik	T	C	14: 54,591,325	T240A	probably benign	Het
Abca15	T	C	7: 120,332,694	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,666,529	I641T	possibly damaging	Het
Ankrd11	A	G	8: 122,889,821	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,452,261	L14F	probably null	Het
Arhgdia	T	C	11: 120,579,235	D204G	probably damaging	Het
Catsperd	A	T	17: 56,662,736	Y610F	possibly damaging	Het
Cblb	T	A	16: 52,033,103	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508	H911R	probably damaging	Het
Cdh23	T	A	10: 60,307,935	I2966F	probably damaging	Het
Chat	G	A	14: 32,419,105	P445L	probably damaging	Het
Chdh	G	T	14: 30,032,852	R273L	possibly damaging	Het
Clic3	T	C	2: 25,457,917	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Ddr1	T	A	17: 35,690,130	D241V	probably damaging	Het
Dock7	T	A	4: 99,020,077	K605N	probably damaging	Het
Dsg2	T	A	18: 20,579,430	F164I	probably damaging	Het
Dstyk	T	A	1: 132,453,106	N446K	probably damaging	Het
Epb42	A	T	2: 121,034,451	L53Q	probably damaging	Het
Extl2	G	C	3: 116,027,192	K229N	probably benign	Het
Frmd4b	T	A	6: 97,298,090	S617C	probably damaging	Het
Fscb	C	T	12: 64,473,814	V293I	probably benign	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm4978	A	C	9: 69,450,872		probably benign	Het
Gm6729	A	G	10: 86,540,388		noncoding transcript	Het
Gnat2	A	C	3: 108,100,616	N293T	probably benign	Het
Herpud1	T	C	8: 94,390,842	I142T	probably benign	Het
Irak2	G	A	6: 113,693,730	V536I	probably benign	Het
Kdm4a	A	G	4: 118,161,754	S422P	probably benign	Het
Lair1	T	A	7: 4,028,949	D53V	probably benign	Het
Lhx1	G	T	11: 84,519,909	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,497,612	T2329I	unknown	Het
Mag	T	C	7: 30,909,200	D163G	probably damaging	Het
Magi3	A	G	3: 104,051,392	V459A	probably damaging	Het
Med13	A	G	11: 86,288,118	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,360,706	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,228,024	C221R	probably damaging	Het
Mtus1	T	A	8: 41,041,478	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nutm2	T	C	13: 50,474,873	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,222,590	V239A	possibly damaging	Het
Pcnx	C	T	12: 81,917,793	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,559,476	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,668,994	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,844,585	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,211,740	T705A	probably benign	Het
Prmt7	T	C	8: 106,237,278	V268A	probably benign	Het
Psd	C	T	19: 46,322,417	G398R	probably damaging	Het
Pygl	A	G	12: 70,206,381	V188A	probably damaging	Het
Rnf13	T	A	3: 57,796,206	N110K	probably damaging	Het
Rnf170	C	T	8: 26,125,911	Q77*	probably null	Het
Rrp8	A	T	7: 105,734,077	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,424,726	D228G	probably damaging	Het
Scgn	T	A	13: 23,989,824	T35S	probably benign	Het
Scyl3	C	T	1: 163,934,747	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074	S123A	probably benign	Het
Sertad2	T	C	11: 20,647,899	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,133,803		probably null	Het
Sult2a2	T	G	7: 13,738,298	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,507,231	S320T	probably benign	Het
Trabd2b	T	C	4: 114,408,944	Y52H	probably damaging	Het
Traf2	T	C	2: 25,530,288	E183G	probably null	Het
Trip10	G	T	17: 57,263,017	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,306,958	V184F	probably benign	Het
Ubc	A	G	5: 125,386,229	V678A	probably benign	Het
Unk	A	G	11: 116,053,665	E414G	possibly damaging	Het
Usp42	T	C	5: 143,719,762	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,436,769	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,066,434	H1364Q	possibly damaging	Het

Other mutations in Kcnu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Kcnu1	APN	8	25897856	missense	probably benign	0.00
IGL00580:Kcnu1	APN	8	25865663	missense	probably benign	0.04
IGL00675:Kcnu1	APN	8	25851849	missense	probably benign
IGL00928:Kcnu1	APN	8	25849735	missense	probably damaging	1.00
IGL01324:Kcnu1	APN	8	25849707	missense	probably benign	0.22
IGL01346:Kcnu1	APN	8	25934523	splice site	probably benign
IGL01361:Kcnu1	APN	8	25886768	missense	possibly damaging	0.78
IGL01651:Kcnu1	APN	8	25861095	missense	probably damaging	1.00
IGL01795:Kcnu1	APN	8	25913705	missense	probably damaging	1.00
IGL01800:Kcnu1	APN	8	25937500	missense	probably damaging	1.00
IGL01975:Kcnu1	APN	8	25934497	missense	probably benign	0.29
IGL02103:Kcnu1	APN	8	25905948	missense	possibly damaging	0.83
IGL02109:Kcnu1	APN	8	25937699	missense	possibly damaging	0.66
IGL02127:Kcnu1	APN	8	25892062	missense	probably damaging	1.00
IGL02170:Kcnu1	APN	8	25937560	missense	probably damaging	1.00
IGL02217:Kcnu1	APN	8	25858184	missense	probably damaging	1.00
IGL02385:Kcnu1	APN	8	25932270	missense	probably damaging	1.00
IGL02493:Kcnu1	APN	8	25937520	missense	possibly damaging	0.68
IGL02883:Kcnu1	APN	8	25849827	missense	probably benign
IGL02884:Kcnu1	APN	8	25921528	missense	probably damaging	1.00
IGL03022:Kcnu1	APN	8	25937586	missense	probably damaging	0.98
IGL03281:Kcnu1	APN	8	25892077	missense	probably null	1.00
IGL03345:Kcnu1	APN	8	25881293	splice site	probably benign
P0026:Kcnu1	UTSW	8	25892122	missense	probably damaging	1.00
PIT4677001:Kcnu1	UTSW	8	25905993	missense	probably benign
R0001:Kcnu1	UTSW	8	25859270	missense	probably damaging	1.00
R0419:Kcnu1	UTSW	8	25937618	missense	probably benign	0.13
R0518:Kcnu1	UTSW	8	25910888	missense	probably damaging	1.00
R0521:Kcnu1	UTSW	8	25910888	missense	probably damaging	1.00
R0581:Kcnu1	UTSW	8	25937501	missense	probably damaging	1.00
R0840:Kcnu1	UTSW	8	25913684	start codon destroyed	probably null	1.00
R1282:Kcnu1	UTSW	8	25905957	missense	probably benign	0.02
R1556:Kcnu1	UTSW	8	25861191	critical splice donor site	probably null
R1600:Kcnu1	UTSW	8	25849793	missense	probably damaging	1.00
R2011:Kcnu1	UTSW	8	25918442	missense	probably benign	0.03
R2035:Kcnu1	UTSW	8	25896693	missense	probably benign	0.35
R2082:Kcnu1	UTSW	8	25921549	missense	probably damaging	1.00
R2132:Kcnu1	UTSW	8	25851900	missense	probably damaging	0.99
R2415:Kcnu1	UTSW	8	25910878	missense	probably benign
R2513:Kcnu1	UTSW	8	25905966	missense	probably benign	0.00
R3712:Kcnu1	UTSW	8	25881420	missense	probably damaging	1.00
R3749:Kcnu1	UTSW	8	25886770	missense	probably null	0.01
R3840:Kcnu1	UTSW	8	25885352	missense	possibly damaging	0.95
R3874:Kcnu1	UTSW	8	25885317	missense	probably damaging	1.00
R4184:Kcnu1	UTSW	8	25862417	missense	probably damaging	1.00
R4576:Kcnu1	UTSW	8	25890020	missense	probably benign	0.06
R4658:Kcnu1	UTSW	8	25937555	missense	probably damaging	1.00
R4667:Kcnu1	UTSW	8	25910921	missense	possibly damaging	0.69
R4791:Kcnu1	UTSW	8	25913752	missense	probably damaging	1.00
R5120:Kcnu1	UTSW	8	25934488	missense	possibly damaging	0.79
R5314:Kcnu1	UTSW	8	25862458	missense	probably damaging	0.97
R5712:Kcnu1	UTSW	8	25919650	missense	probably damaging	1.00
R5807:Kcnu1	UTSW	8	25849714	missense	possibly damaging	0.78
R6237:Kcnu1	UTSW	8	25932334	missense	probably benign
R6260:Kcnu1	UTSW	8	25851891	missense	probably damaging	1.00
R6360:Kcnu1	UTSW	8	25861180	missense	possibly damaging	0.73
R6612:Kcnu1	UTSW	8	25918316	missense	probably benign	0.10
R6708:Kcnu1	UTSW	8	25937711	missense	probably benign
R6765:Kcnu1	UTSW	8	25913645	missense	probably damaging	1.00
R6816:Kcnu1	UTSW	8	25937734	nonsense	probably null
R7030:Kcnu1	UTSW	8	25918463	missense	probably benign	0.00
R7202:Kcnu1	UTSW	8	25919581	splice site	probably null
R7208:Kcnu1	UTSW	8	25919637	nonsense	probably null
R7411:Kcnu1	UTSW	8	25892088	missense	probably damaging	1.00
R7520:Kcnu1	UTSW	8	25885340	missense	probably damaging	1.00
R7579:Kcnu1	UTSW	8	25896658	missense	probably damaging	1.00
R7968:Kcnu1	UTSW	8	25910870	missense	probably benign
R8305:Kcnu1	UTSW	8	25891990	missense	probably benign	0.21
R8443:Kcnu1	UTSW	8	25892064	missense	probably damaging	1.00
R8694:Kcnu1	UTSW	8	25852073	unclassified	probably benign
R8730:Kcnu1	UTSW	8	25913680	missense	probably damaging	1.00
R9173:Kcnu1	UTSW	8	25900046	critical splice donor site	probably null
R9285:Kcnu1	UTSW	8	25891583	missense	probably damaging	0.99
R9291:Kcnu1	UTSW	8	25900013	missense	probably benign
R9340:Kcnu1	UTSW	8	25886758	missense	possibly damaging	0.93
R9470:Kcnu1	UTSW	8	25919632	missense	probably benign	0.13
R9556:Kcnu1	UTSW	8	25858126	missense	probably damaging	1.00
R9616:Kcnu1	UTSW	8	25913647	frame shift	probably null
Z1177:Kcnu1	UTSW	8	25849764	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCCAAACCCGTGGTTC -3'
(R):5'- AAGAAGTGCCCCAGTAGTAAC -3'

Sequencing Primer
(F):5'- AAACCCGTGGTTCCTCCC -3'
(R):5'- GAGACGAGATCTTGCTCTATAGCC -3'

Posted On

2016-04-27