Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00928:Kcnu1'

28029

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 #

IGL00928

Quality Score

Status

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26339763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 27 (F27S)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098858] [ENSMUST00000110610]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098858
AA Change: F27S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: F27S

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: ENSMUST00000110610

SMART Domains

Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,217,720 (GRCm39)		probably benign	Het
Ablim3	T	C	18: 61,982,477 (GRCm39)	E156G	possibly damaging	Het
Adgrb2	A	G	4: 129,886,096 (GRCm39)	T79A	probably benign	Het
Arel1	A	T	12: 84,980,936 (GRCm39)	V357E	probably damaging	Het
Asph	T	C	4: 9,594,675 (GRCm39)	I241V	probably benign	Het
B3galt2	A	G	1: 143,522,893 (GRCm39)	Y343C	probably damaging	Het
Brf1	A	G	12: 112,927,220 (GRCm39)		probably benign	Het
Col3a1	A	G	1: 45,380,018 (GRCm39)		probably benign	Het
Cps1	A	C	1: 67,162,393 (GRCm39)	T24P	probably benign	Het
Cyp3a25	A	G	5: 145,923,764 (GRCm39)	L293P	possibly damaging	Het
Engase	C	A	11: 118,373,796 (GRCm39)	R313S	possibly damaging	Het
Espn	A	G	4: 152,220,059 (GRCm39)	S28P	probably damaging	Het
Gnas	T	A	2: 174,139,746 (GRCm39)	L31*	probably null	Het
Gorasp2	A	G	2: 70,521,208 (GRCm39)	T393A	probably benign	Het
Gpc6	T	A	14: 117,163,370 (GRCm39)	V8E	possibly damaging	Het
Gtf2a1l	T	C	17: 89,001,890 (GRCm39)	S202P	probably benign	Het
Gucy1a2	T	C	9: 3,759,777 (GRCm39)	F528L	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Igsf10	T	C	3: 59,238,018 (GRCm39)	H721R	probably benign	Het
Mprip	T	A	11: 59,635,578 (GRCm39)	W366R	probably damaging	Het
Myom1	T	C	17: 71,396,908 (GRCm39)	V954A	probably damaging	Het
Nudt13	T	C	14: 20,366,231 (GRCm39)	I303T	possibly damaging	Het
Or10s1	T	A	9: 39,986,072 (GRCm39)	H160Q	probably damaging	Het
Or2h1	A	C	17: 37,404,224 (GRCm39)	S181A	probably benign	Het
Orc4	A	G	2: 48,800,281 (GRCm39)	V289A	probably benign	Het
Pamr1	C	A	2: 102,469,686 (GRCm39)	Q411K	probably benign	Het
Pdcl	A	G	2: 37,247,386 (GRCm39)	M1T	probably null	Het
Phf20	T	C	2: 156,146,736 (GRCm39)		probably null	Het
Pla2r1	T	C	2: 60,365,424 (GRCm39)	S49G	probably damaging	Het
Ppp2r3c	A	G	12: 55,339,283 (GRCm39)		probably null	Het
Rdh14	G	A	12: 10,444,803 (GRCm39)	S218N	probably damaging	Het
Rfx4	A	G	10: 84,675,978 (GRCm39)	R16G	probably benign	Het
Scarb2	A	C	5: 92,594,203 (GRCm39)	F453C	probably damaging	Het
Sh2d7	A	G	9: 54,448,515 (GRCm39)	T179A	probably benign	Het
Spag6l	C	T	16: 16,584,877 (GRCm39)	A424T	possibly damaging	Het
Trim71	T	C	9: 114,354,083 (GRCm39)	D307G	probably benign	Het
Ufl1	A	T	4: 25,267,790 (GRCm39)	L294M	probably damaging	Het
Wdr93	C	A	7: 79,425,301 (GRCm39)	P540Q	probably damaging	Het
Wmp	T	A	X: 106,989,449 (GRCm39)	E488V	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
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
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

2013-04-17