Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Kcnu1'

276727

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Kcnma3, Slo3

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25849623-25937939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25885317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 353 (L353H)

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: L353H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: L353H

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: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably 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
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
R4940:Kcnu1	UTSW	8	25897862	splice site	probably null
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'- GTAGGTTACATGCAAGCTTGTG -3'
(R):5'- GTGCTTTCGTGAAATTTACAGC -3'

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

Posted On

2015-04-06