Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02127:Kcnu1'

280932

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 #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

26339651-26427967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26382090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 480 (L480P)

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: L480P

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

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: L480P

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,305 (GRCm39)	M661K	probably benign	Het
Arpin	G	A	7: 79,577,941 (GRCm39)	R163W	probably benign	Het
Atm	C	A	9: 53,399,283 (GRCm39)	D1573Y	probably damaging	Het
Avil	A	G	10: 126,847,695 (GRCm39)	N540S	probably benign	Het
Btnl6	T	C	17: 34,733,017 (GRCm39)	Q282R	probably benign	Het
Cacna2d3	T	C	14: 28,785,832 (GRCm39)		probably benign	Het
Cd300ld4	T	C	11: 114,913,545 (GRCm39)	N170S	probably benign	Het
Cgnl1	T	A	9: 71,633,135 (GRCm39)	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,946,878 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,143,379 (GRCm39)	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,839,501 (GRCm39)	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,675,307 (GRCm39)	E349G	probably benign	Het
Dnah1	T	C	14: 31,026,885 (GRCm39)	E713G	probably benign	Het
Dnah7b	A	T	1: 46,179,035 (GRCm39)	T903S	probably benign	Het
Enthd1	T	C	15: 80,336,943 (GRCm39)	D497G	probably damaging	Het
Grk4	C	T	5: 34,867,530 (GRCm39)	T165I	probably benign	Het
Hmcn1	G	A	1: 150,598,358 (GRCm39)	S1648L	probably benign	Het
Ints11	A	G	4: 155,971,320 (GRCm39)	Y278C	probably damaging	Het
Kif5c	G	A	2: 49,591,122 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,414,128 (GRCm39)	R10H	probably benign	Het
Klhl35	T	C	7: 99,120,888 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,933 (GRCm39)	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,395,365 (GRCm39)	T20I	probably benign	Het
Mab21l1	C	T	3: 55,691,016 (GRCm39)	A201V	probably benign	Het
Mab21l2	T	C	3: 86,454,124 (GRCm39)	D292G	possibly damaging	Het
Map3k21	T	C	8: 126,668,886 (GRCm39)	L824P	probably benign	Het
Myo5a	T	C	9: 75,120,263 (GRCm39)	V1687A	probably benign	Het
Myo5c	G	T	9: 75,208,184 (GRCm39)	W1639C	probably damaging	Het
Nfya	G	T	17: 48,700,283 (GRCm39)		probably benign	Het
Or4a76	A	G	2: 89,461,098 (GRCm39)	I48T	probably damaging	Het
Papolg	A	G	11: 23,820,870 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,686 (GRCm39)	R626C	probably damaging	Het
Pclo	T	C	5: 14,815,159 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,782,014 (GRCm39)		probably benign	Het
Polg	G	A	7: 79,107,915 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,377,479 (GRCm39)	V401A	probably damaging	Het
Scn9a	A	T	2: 66,325,170 (GRCm39)	I1317K	probably damaging	Het
St7	T	A	6: 17,844,968 (GRCm39)		probably benign	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Trmt1	T	C	8: 85,424,100 (GRCm39)	V400A	probably damaging	Het
Trrap	A	G	5: 144,753,243 (GRCm39)	N1856S	probably benign	Het
Ube3a	G	A	7: 58,925,789 (GRCm39)	G210D	probably benign	Het
Ubqln5	A	G	7: 103,778,689 (GRCm39)	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,661,958 (GRCm39)	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606 (GRCm39)	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,446,367 (GRCm39)	E172G	probably 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
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

2015-04-16