Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02385:Kcnu1'

291512

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02385

Quality Score

Status

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26422298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 188 (L188F)

Ref Sequence

ENSEMBL: ENSMUSP00000113442 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098858
AA Change: L928F

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

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: L928F

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 damaging
Transcript: ENSMUST00000120653
AA Change: L188F

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

SMART Domains

Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: L188F

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

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,201,630 (GRCm39)	D351E	probably damaging	Het
Adad2	A	G	8: 120,341,773 (GRCm39)		probably benign	Het
Adamts8	A	G	9: 30,873,026 (GRCm39)	N744D	probably benign	Het
Atad5	C	T	11: 79,985,453 (GRCm39)	T180I	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bcl9	A	T	3: 97,116,594 (GRCm39)	I700K	probably benign	Het
Bcr	T	C	10: 74,981,235 (GRCm39)	S685P	probably damaging	Het
Cd36	A	G	5: 18,019,717 (GRCm39)	V128A	probably benign	Het
Cfap20dc	A	G	14: 8,510,920 (GRCm38)	V498A	possibly damaging	Het
Chd2	T	C	7: 73,085,570 (GRCm39)	Y1688C	probably damaging	Het
Csmd1	A	G	8: 15,953,275 (GRCm39)	V3402A	probably benign	Het
Dsg3	T	C	18: 20,660,771 (GRCm39)	V370A	probably damaging	Het
Dus4l	A	G	12: 31,690,674 (GRCm39)		probably benign	Het
Fcrlb	A	G	1: 170,735,168 (GRCm39)	S320P	probably damaging	Het
Fer1l4	T	C	2: 155,887,348 (GRCm39)	D616G	probably benign	Het
Fxr2	C	T	11: 69,543,095 (GRCm39)	R631C	possibly damaging	Het
Gltpd2	T	A	11: 70,410,822 (GRCm39)	F152I	probably damaging	Het
Gpt2	T	A	8: 86,242,782 (GRCm39)		probably null	Het
Hsd3b6	A	T	3: 98,713,888 (GRCm39)	I137K	possibly damaging	Het
Kcna6	A	G	6: 126,715,917 (GRCm39)	V324A	probably benign	Het
Kdm1b	A	G	13: 47,221,982 (GRCm39)	I474V	possibly damaging	Het
Kifap3	C	T	1: 163,693,013 (GRCm39)	Q602*	probably null	Het
Lrp4	T	A	2: 91,305,065 (GRCm39)	C231S	possibly damaging	Het
Lrrc63	T	C	14: 75,323,640 (GRCm39)	D528G	probably benign	Het
Nosip	C	A	7: 44,726,156 (GRCm39)	R240S	possibly damaging	Het
Or11g26	T	C	14: 50,752,900 (GRCm39)	S80P	probably damaging	Het
Or4f57	G	A	2: 111,790,603 (GRCm39)	P272S	probably benign	Het
Or4k41	A	G	2: 111,279,695 (GRCm39)	D70G	probably damaging	Het
Orc5	A	T	5: 22,731,438 (GRCm39)	D231E	probably damaging	Het
Poli	A	T	18: 70,659,645 (GRCm39)	M62K	possibly damaging	Het
Ppp1r13b	A	C	12: 111,801,477 (GRCm39)	S402R	probably damaging	Het
Prl3b1	T	C	13: 27,433,366 (GRCm39)	S174P	possibly damaging	Het
Ptpra	T	C	2: 130,382,393 (GRCm39)		probably benign	Het
Sfpq	T	A	4: 126,919,929 (GRCm39)		probably null	Het
Sh3bp1	T	A	15: 78,790,088 (GRCm39)		probably benign	Het
Slc7a2	T	G	8: 41,352,048 (GRCm39)	V37G	probably damaging	Het
Smc1a	A	T	X: 150,820,655 (GRCm39)	E794D	possibly damaging	Het
Sox6	T	C	7: 115,149,274 (GRCm39)	R366G	possibly damaging	Het
Spaca7	A	G	8: 12,636,498 (GRCm39)	N108S	possibly damaging	Het
Spon1	T	G	7: 113,365,567 (GRCm39)	M1R	probably null	Het
Sult6b2	T	C	6: 142,747,498 (GRCm39)	R84G	probably benign	Het
Syt2	A	G	1: 134,673,553 (GRCm39)	N299S	probably benign	Het
Syvn1	T	C	19: 6,098,570 (GRCm39)	V104A	probably damaging	Het
Tbpl1	A	G	10: 22,583,568 (GRCm39)	L134P	probably damaging	Het
Tex11	A	T	X: 99,920,135 (GRCm39)		probably benign	Het
Tnfrsf21	A	G	17: 43,350,942 (GRCm39)	S369G	probably damaging	Het
Tram1l1	T	C	3: 124,115,707 (GRCm39)	V289A	probably benign	Het
Ttyh3	A	T	5: 140,619,060 (GRCm39)	F277L	probably benign	Het
Vmn2r17	T	G	5: 109,582,247 (GRCm39)	N545K	probably damaging	Het
Wdr20	A	T	12: 110,759,657 (GRCm39)	H181L	probably benign	Het
Zscan20	A	G	4: 128,498,392 (GRCm39)	M2T	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
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
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

Posted On

2015-04-16