Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00088:Kcnu1'

1405

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 #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

25849623-25937939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25897856 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 566 (C566Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096457 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098858
AA Change: C566Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096457
Gene: ENSMUSG00000031576
AA Change: C566Y

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Ankhd1	A	G	18: 36,665,459		probably benign	Het
Anpep	A	G	7: 79,825,736	V879A	possibly damaging	Het
Asb13	T	G	13: 3,643,476	V78G	probably null	Het
Atad2b	A	G	12: 5,024,593	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,098,510	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,341,670	G185C	probably damaging	Het
C87499	T	A	4: 88,629,070	K121N	probably benign	Het
Catsperg2	A	G	7: 29,705,404	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,561,306	S52T	unknown	Het
Col4a2	G	T	8: 11,443,685	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,918,468	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,503,842	N125I	probably benign	Het
Cyp2t4	A	T	7: 27,155,298	M68L	probably benign	Het
Dclk2	T	A	3: 86,799,090		probably null	Het
Dmxl2	T	C	9: 54,401,704	D1921G	probably benign	Het
Dnah10	G	A	5: 124,828,603	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,178,911	I273T	probably damaging	Het
Extl1	T	C	4: 134,358,019	K596E	probably damaging	Het
Fads3	A	T	19: 10,052,299	D108V	probably null	Het
Fam135b	A	G	15: 71,450,494	L1274P	probably damaging	Het
Fat1	T	A	8: 45,024,602	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,292,680	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,200,971		probably null	Het
Gm13119	T	A	4: 144,362,530	H139Q	possibly damaging	Het
Gpr137	A	C	19: 6,939,704	V139G	probably damaging	Het
Ikbke	A	G	1: 131,270,012		probably null	Het
Irak2	A	T	6: 113,678,675	N285Y	probably benign	Het
Klhl29	G	A	12: 5,140,705	P97S	probably benign	Het
Lama4	T	C	10: 39,065,595		probably benign	Het
Lhx6	G	A	2: 36,091,716		probably benign	Het
Mdn1	T	C	4: 32,723,651	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Naa15	T	A	3: 51,438,405	V19D	probably damaging	Het
Ncbp3	A	T	11: 73,073,529		probably benign	Het
Nckipsd	G	A	9: 108,814,969	V530I	probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,591,924		probably benign	Het
Nupl1	T	A	14: 60,242,577	I207L	probably benign	Het
Olfr113	A	T	17: 37,574,917	C169S	probably damaging	Het
Olfr180	C	T	16: 58,915,850	E264K	probably benign	Het
Olfr290	T	A	7: 84,916,370	M197K	probably damaging	Het
Otud4	T	A	8: 79,672,881	N741K	probably damaging	Het
Pard6a	T	A	8: 105,703,201	C264S	probably benign	Het
Plch2	T	C	4: 155,006,642	N276S	probably damaging	Het
Racgap1	T	C	15: 99,636,122		probably benign	Het
Rad51d	T	C	11: 82,889,746	D70G	probably damaging	Het
Recql4	C	T	15: 76,707,336	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,466,779	S149T	probably benign	Het
Rpl13a	C	A	7: 45,127,071		probably null	Het
Scn10a	T	C	9: 119,672,226	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,764,440	I1878V	probably benign	Het
Sgcg	T	A	14: 61,240,347	R98*	probably null	Het
Tas2r137	A	T	6: 40,491,340	I35F	probably benign	Het
Tex19.2	A	G	11: 121,116,812	F270S	possibly damaging	Het
Traip	C	T	9: 107,970,550	R391W	probably benign	Het
Trim7	A	G	11: 48,845,571	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,249,487	V8D	probably benign	Het
Ubr3	A	C	2: 69,988,810	I9L	probably benign	Het
Usp42	A	G	5: 143,717,142	S575P	probably benign	Het
Vmn2r52	G	T	7: 10,169,096	H468Q	probably benign	Het
Vmn2r59	T	A	7: 42,012,064	T776S	possibly damaging	Het
Zcchc6	T	C	13: 59,816,698	E221G	probably damaging	Het

Other mutations in Kcnu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02217:Kcnu1	APN	8	25858184	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
R7968:Kcnu1	UTSW	8	25910870	missense	probably benign
R8305:Kcnu1	UTSW	8	25891990	missense	probably benign	0.21
R8443:Kcnu1	UTSW	8	25892064	missense	probably damaging	1.00
Z1177:Kcnu1	UTSW	8	25849764	missense	probably damaging	1.00

Posted On

2011-07-12