Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Kcnu1'

295718

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 #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26427548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 288 (N288K)

Ref Sequence

ENSEMBL: ENSMUSP00000113442 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098858
AA Change: N1028K

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: N1028K

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

possibly damaging
Transcript: ENSMUST00000120653
AA Change: N288K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113442
Gene: ENSMUSG00000031576
AA Change: N288K

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Nat8f5	A	G	6: 85,794,544 (GRCm39)	F139L	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Ntsr2	T	A	12: 16,708,390 (GRCm39)	S248T	possibly damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Or5p57	A	T	7: 107,665,012 (GRCm39)	M331K	possibly damaging	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Treh	A	T	9: 44,594,246 (GRCm39)	D164V	possibly damaging	Het
Trim6	A	G	7: 103,881,847 (GRCm39)	Y366C	probably benign	Het
Ubr7	T	C	12: 102,734,479 (GRCm39)	V251A	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	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
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