Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02217:Kcnu1'

284923

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnu1

Ensembl Gene

ENSMUSG00000031576

Gene Name

potassium channel, subfamily U, member 1

Synonyms

Kcnma3, Slo3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

25849623-25937939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25858184 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 126 (D126G)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098858
AA Change: D126G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: D126G

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

noncoding transcript
Transcript: ENSMUST00000210273

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,470,898		probably benign	Het
Actn1	G	A	12: 80,174,094	Q647*	probably null	Het
Adamts6	T	A	13: 104,462,365		probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabin1	G	A	10: 75,700,047	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,029,200		probably benign	Het
Clca4a	T	A	3: 144,961,996	T405S	possibly damaging	Het
Cntln	G	A	4: 85,100,258	V1168M	probably damaging	Het
Col18a1	A	G	10: 77,053,298	S1494P	probably damaging	Het
Cps1	A	T	1: 67,174,382	T758S	probably benign	Het
Cul3	A	T	1: 80,283,767	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,369,143		probably null	Het
Dennd4c	T	A	4: 86,813,799	C917S	probably benign	Het
Dhrs11	A	T	11: 84,822,395	Y166*	probably null	Het
Dtl	A	G	1: 191,568,314	V146A	probably damaging	Het
Exosc9	A	G	3: 36,552,744	E20G	probably damaging	Het
Fer	A	G	17: 64,138,965	K437R	probably benign	Het
Fkbp6	A	T	5: 135,337,630	V284E	probably benign	Het
Foxq1	A	T	13: 31,559,169	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832	S83R	probably damaging	Het
Gm5244	A	T	19: 12,846,863		noncoding transcript	Het
Gm765	T	A	6: 98,248,072	E83D	possibly damaging	Het
Gm884	T	C	11: 103,612,871		probably benign	Het
Gpr156	A	G	16: 38,005,311	D630G	probably benign	Het
Hace1	A	T	10: 45,590,375		probably null	Het
Hemgn	G	T	4: 46,396,420	T272K	probably damaging	Het
Ifi213	T	G	1: 173,595,032	E89A	possibly damaging	Het
Jarid2	A	G	13: 44,913,201	E954G	probably damaging	Het
Lbh	A	T	17: 72,921,252	I31F	possibly damaging	Het
Muc6	T	C	7: 141,649,624	E490G	probably damaging	Het
Ncoa3	T	C	2: 166,055,346	S686P	probably damaging	Het
Nme4	A	G	17: 26,093,860	M108T	probably damaging	Het
Nod1	A	C	6: 54,943,419	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,406,539	N70S	probably damaging	Het
Olfr1111	A	G	2: 87,149,887	M258T	probably benign	Het
Olfr1344	T	A	7: 6,440,245	I115N	probably damaging	Het
Pitrm1	G	A	13: 6,567,341		probably benign	Het
Proser1	A	G	3: 53,471,491	K115E	probably damaging	Het
Ptov1	C	T	7: 44,867,476	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,417,389		probably null	Het
Rbbp8nl	A	G	2: 180,278,188		probably benign	Het
Rtn3	G	A	19: 7,435,084	T794I	probably damaging	Het
Setd4	A	G	16: 93,593,295	L82P	probably damaging	Het
Shank2	C	T	7: 144,285,047	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,545,570	V45G	probably damaging	Het
Utrn	A	G	10: 12,751,559	F57S	probably damaging	Het
Vcan	T	G	13: 89,703,077	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,339,810	H183P	probably damaging	Het
Wdr48	T	C	9: 119,909,535	I286T	probably benign	Het

Other mutations in Kcnu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Kcnu1	APN	8	25897856	missense	probably benign	0.00
IGL00580:Kcnu1	APN	8	25865663	missense	probably benign	0.04
IGL00675:Kcnu1	APN	8	25851849	missense	probably benign
IGL00928:Kcnu1	APN	8	25849735	missense	probably damaging	1.00
IGL01324:Kcnu1	APN	8	25849707	missense	probably benign	0.22
IGL01346:Kcnu1	APN	8	25934523	splice site	probably benign
IGL01361:Kcnu1	APN	8	25886768	missense	possibly damaging	0.78
IGL01651:Kcnu1	APN	8	25861095	missense	probably damaging	1.00
IGL01795:Kcnu1	APN	8	25913705	missense	probably damaging	1.00
IGL01800:Kcnu1	APN	8	25937500	missense	probably damaging	1.00
IGL01975:Kcnu1	APN	8	25934497	missense	probably benign	0.29
IGL02103:Kcnu1	APN	8	25905948	missense	possibly damaging	0.83
IGL02109:Kcnu1	APN	8	25937699	missense	possibly damaging	0.66
IGL02127:Kcnu1	APN	8	25892062	missense	probably damaging	1.00
IGL02170:Kcnu1	APN	8	25937560	missense	probably damaging	1.00
IGL02385:Kcnu1	APN	8	25932270	missense	probably damaging	1.00
IGL02493:Kcnu1	APN	8	25937520	missense	possibly damaging	0.68
IGL02883:Kcnu1	APN	8	25849827	missense	probably benign
IGL02884:Kcnu1	APN	8	25921528	missense	probably damaging	1.00
IGL03022:Kcnu1	APN	8	25937586	missense	probably damaging	0.98
IGL03281:Kcnu1	APN	8	25892077	missense	probably null	1.00
IGL03345:Kcnu1	APN	8	25881293	splice site	probably benign
P0026:Kcnu1	UTSW	8	25892122	missense	probably damaging	1.00
PIT4677001:Kcnu1	UTSW	8	25905993	missense	probably benign
R0001:Kcnu1	UTSW	8	25859270	missense	probably damaging	1.00
R0419:Kcnu1	UTSW	8	25937618	missense	probably benign	0.13
R0518:Kcnu1	UTSW	8	25910888	missense	probably damaging	1.00
R0521:Kcnu1	UTSW	8	25910888	missense	probably damaging	1.00
R0581:Kcnu1	UTSW	8	25937501	missense	probably damaging	1.00
R0840:Kcnu1	UTSW	8	25913684	start codon destroyed	probably null	1.00
R1282:Kcnu1	UTSW	8	25905957	missense	probably benign	0.02
R1556:Kcnu1	UTSW	8	25861191	critical splice donor site	probably null
R1600:Kcnu1	UTSW	8	25849793	missense	probably damaging	1.00
R2011:Kcnu1	UTSW	8	25918442	missense	probably benign	0.03
R2035:Kcnu1	UTSW	8	25896693	missense	probably benign	0.35
R2082:Kcnu1	UTSW	8	25921549	missense	probably damaging	1.00
R2132:Kcnu1	UTSW	8	25851900	missense	probably damaging	0.99
R2415:Kcnu1	UTSW	8	25910878	missense	probably benign
R2513:Kcnu1	UTSW	8	25905966	missense	probably benign	0.00
R3712:Kcnu1	UTSW	8	25881420	missense	probably damaging	1.00
R3749:Kcnu1	UTSW	8	25886770	missense	probably null	0.01
R3840:Kcnu1	UTSW	8	25885352	missense	possibly damaging	0.95
R3874:Kcnu1	UTSW	8	25885317	missense	probably damaging	1.00
R4184:Kcnu1	UTSW	8	25862417	missense	probably damaging	1.00
R4576:Kcnu1	UTSW	8	25890020	missense	probably benign	0.06
R4658:Kcnu1	UTSW	8	25937555	missense	probably damaging	1.00
R4667:Kcnu1	UTSW	8	25910921	missense	possibly damaging	0.69
R4791:Kcnu1	UTSW	8	25913752	missense	probably damaging	1.00
R4940:Kcnu1	UTSW	8	25897862	splice site	probably null
R5120:Kcnu1	UTSW	8	25934488	missense	possibly damaging	0.79
R5314:Kcnu1	UTSW	8	25862458	missense	probably damaging	0.97
R5712:Kcnu1	UTSW	8	25919650	missense	probably damaging	1.00
R5807:Kcnu1	UTSW	8	25849714	missense	possibly damaging	0.78
R6237:Kcnu1	UTSW	8	25932334	missense	probably benign
R6260:Kcnu1	UTSW	8	25851891	missense	probably damaging	1.00
R6360:Kcnu1	UTSW	8	25861180	missense	possibly damaging	0.73
R6612:Kcnu1	UTSW	8	25918316	missense	probably benign	0.10
R6708:Kcnu1	UTSW	8	25937711	missense	probably benign
R6765:Kcnu1	UTSW	8	25913645	missense	probably damaging	1.00
R6816:Kcnu1	UTSW	8	25937734	nonsense	probably null
R7030:Kcnu1	UTSW	8	25918463	missense	probably benign	0.00
R7202:Kcnu1	UTSW	8	25919581	splice site	probably null
R7208:Kcnu1	UTSW	8	25919637	nonsense	probably null
R7411:Kcnu1	UTSW	8	25892088	missense	probably damaging	1.00
R7520:Kcnu1	UTSW	8	25885340	missense	probably damaging	1.00
R7579:Kcnu1	UTSW	8	25896658	missense	probably damaging	1.00

Posted On

2015-04-16