Mutagenetix > Incidental Mutation

Incidental Mutation 'R7968:Kcnu1'

650466

Institutional Source

Beutler Lab

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Slo3, Kcnma3

MMRRC Submission

046011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26400898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 682 (V682A)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000120653] [ENSMUST00000126226]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098858
AA Change: V682A

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

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: V682A

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

probably benign
Transcript: ENSMUST00000120653

SMART Domains

Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576

Domain	Start	End	E-Value	Type
PDB:4HPF\|B	1	332	1e-144	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000126226

SMART Domains

Protein: ENSMUSP00000123273
Gene: ENSMUSG00000031576

Domain	Start	End	E-Value	Type
PDB:4HPF\|B	1	160	5e-61	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,441 (GRCm39)	T35A		Het
Adamts16	A	C	13: 70,886,701 (GRCm39)	S1030A	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Aff4	C	T	11: 53,300,175 (GRCm39)	T1026I	probably damaging	Het
Arfgef1	T	C	1: 10,243,145 (GRCm39)	Y1065C	probably damaging	Het
Arhgef3	G	T	14: 27,108,070 (GRCm39)	D192Y	probably damaging	Het
Arhgef3	G	A	14: 27,116,062 (GRCm39)	R268Q	probably damaging	Het
Atp6v0e	T	A	17: 26,913,885 (GRCm39)		probably null	Het
B3galt9	A	G	2: 34,728,257 (GRCm39)	N19D	probably damaging	Het
Cenpc1	A	G	5: 86,181,551 (GRCm39)	Y605H	probably benign	Het
Cftr	T	C	6: 18,226,048 (GRCm39)	V332A	probably benign	Het
Csmd2	A	G	4: 128,091,118 (GRCm39)	H219R		Het
Csnk1g3	C	T	18: 54,028,726 (GRCm39)		probably benign	Het
Cyp4f17	T	C	17: 32,743,116 (GRCm39)	V263A	possibly damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Entrep1	G	T	19: 23,962,091 (GRCm39)	T304K	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gstm4	A	T	3: 107,951,677 (GRCm39)	M35K	probably damaging	Het
Kcna2	A	G	3: 107,012,460 (GRCm39)	Y347C	possibly damaging	Het
Kcnh7	G	A	2: 62,566,444 (GRCm39)	T829M	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kera	A	G	10: 97,444,821 (GRCm39)	E60G	possibly damaging	Het
Letm2	C	T	8: 26,083,766 (GRCm39)	G155D	probably damaging	Het
Lrfn4	G	A	19: 4,663,343 (GRCm39)	A397V	probably benign	Het
Lrp4	A	G	2: 91,324,424 (GRCm39)	Q1253R	possibly damaging	Het
Mob1a	T	A	6: 83,315,287 (GRCm39)	M145K	probably benign	Het
Nab1	A	G	1: 52,529,295 (GRCm39)	C201R	probably damaging	Het
Nlrp9b	A	G	7: 19,762,493 (GRCm39)	E710G	probably benign	Het
Oas2	A	G	5: 120,876,437 (GRCm39)	V502A	probably benign	Het
Or1e26	T	C	11: 73,480,154 (GRCm39)	S137G	probably benign	Het
Or52d3	T	A	7: 104,229,595 (GRCm39)	C247*	probably null	Het
Or52h7	A	T	7: 104,213,857 (GRCm39)	H143L	probably benign	Het
Parg	A	T	14: 31,936,327 (GRCm39)	H494L	possibly damaging	Het
Phf20	T	A	2: 156,135,464 (GRCm39)	D600E	probably benign	Het
Ppef2	G	A	5: 92,397,022 (GRCm39)	R118C	probably damaging	Het
Ptprz1	T	A	6: 22,959,675 (GRCm39)	N57K	probably damaging	Het
Rrbp1	A	T	2: 143,832,081 (GRCm39)	S29T	probably damaging	Het
Sema3g	C	A	14: 30,942,605 (GRCm39)	R69S	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc4a3	A	G	1: 75,528,007 (GRCm39)	T419A	probably benign	Het
Smc3	T	C	19: 53,611,649 (GRCm39)		probably null	Het
Sntg1	C	T	1: 8,535,760 (GRCm39)	W288*	probably null	Het
Synpo2l	G	T	14: 20,716,870 (GRCm39)		probably null	Het
Tap1	A	G	17: 34,413,886 (GRCm39)	I634V	probably damaging	Het
Tmem25	A	G	9: 44,706,983 (GRCm39)	S278P	probably benign	Het
Togaram2	T	C	17: 72,024,428 (GRCm39)	S871P	probably benign	Het
Trim37	T	C	11: 87,040,179 (GRCm39)	V225A	possibly damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	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
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
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'- AGAGTTGGCGTATTTCGAGC -3'
(R):5'- TGGTTTACAAAAGAGCCGAGTGC -3'

Sequencing Primer
(F):5'- CCTAAGCCTTAAGTGGAAGCTTTGC -3'
(R):5'- CGAGTGCTCCTTATGATGCACAG -3'

Posted On

2020-09-15