Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01901:Kcnh8'

179545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh8

Ensembl Gene

ENSMUSG00000035580

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 8

Synonyms

ELK1, C130090D05Rik, Kv12.1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 52894120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039366]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039366

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580

Domain	Start	End	E-Value	Type
Blast:PAS	16	88	9e-35	BLAST
PAC	94	136	3.42e-9	SMART
Pfam:Ion_trans	221	481	4.9e-36	PFAM
Pfam:Ion_trans_2	411	475	1.1e-12	PFAM
cNMP	551	666	1.17e-16	SMART
low complexity region	710	722	N/A	INTRINSIC
coiled coil region	853	897	N/A	INTRINSIC
low complexity region	1020	1036	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.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,682,584	F1172L	probably benign	Het
Adam2	A	G	14: 66,035,229		probably benign	Het
Aldh1a7	T	G	19: 20,717,739	Y154S	probably damaging	Het
BC117090	C	A	16: 36,334,263	A11S	probably damaging	Het
Casc3	A	G	11: 98,823,121	D393G	probably damaging	Het
Cd180	A	G	13: 102,706,428	I661V	probably benign	Het
Cdh1	T	C	8: 106,657,760	S287P	probably damaging	Het
Clnk	T	C	5: 38,794,978	N6S	probably damaging	Het
Cyp17a1	C	T	19: 46,671,092	V100M	possibly damaging	Het
Ddhd2	A	G	8: 25,748,594	V53A	probably damaging	Het
Elovl7	T	A	13: 108,274,393		probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14180	A	G	11: 99,734,227	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Golga5	G	A	12: 102,479,802		probably null	Het
Gpr162	A	T	6: 124,861,407	F93L	possibly damaging	Het
Lamp3	A	T	16: 19,673,419	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,963,010	D211G	probably benign	Het
Ms4a3	T	C	19: 11,639,266	E4G	possibly damaging	Het
Myo15	A	G	11: 60,527,434		probably benign	Het
Olfr1257	A	G	2: 89,881,482	I219V	probably damaging	Het
Olfr1448	T	C	19: 12,919,583	H242R	probably damaging	Het
Olfr612	A	T	7: 103,538,970	L88Q	probably damaging	Het
Olfr638	A	G	7: 104,004,067	H264R	probably damaging	Het
Olfr698	A	G	7: 106,752,545	V281A	possibly damaging	Het
Olfr815	A	G	10: 129,901,853	F286L	probably benign	Het
Penk	T	C	4: 4,134,465	I61V	probably benign	Het
Pkhd1	T	A	1: 20,220,083	K2860N	probably benign	Het
Prtg	C	T	9: 72,855,066	P492S	probably damaging	Het
Tdrd7	T	C	4: 45,989,225		probably benign	Het
Terf2ip	A	G	8: 112,012,068	N196S	probably benign	Het
Tgtp1	T	C	11: 48,987,555	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,059,971	H277R	probably benign	Het
Tshz2	T	A	2: 169,885,536	L215Q	possibly damaging	Het
Ube3c	T	A	5: 29,668,007	V1015E	probably damaging	Het
Utrn	T	A	10: 12,640,928	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,880,812	Y157C	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	52834680	missense	probably damaging	1.00
IGL01959:Kcnh8	APN	17	52834607	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	52877911	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	52803528	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	52898497	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	52959443	missense	probably benign	0.00
IGL02931:Kcnh8	APN	17	52956622	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	52956767	missense	probably benign	0.22
Incompetent	UTSW	17	52894101	missense	probably damaging	1.00
leak	UTSW	17	52725906	small deletion	probably benign
R0282:Kcnh8	UTSW	17	52725851	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	52977620	splice site	probably null
R0496:Kcnh8	UTSW	17	52725858	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	52894005	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	52978113	nonsense	probably null
R0891:Kcnh8	UTSW	17	52905214	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	52725899	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	52803484	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52893960	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52893961	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	52956881	missense	probably benign
R1657:Kcnh8	UTSW	17	52839125	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	52893968	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1804:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1929:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1980:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1981:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1982:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2016:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2017:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2132:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2265:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2266:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2267:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2303:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2309:Kcnh8	UTSW	17	52978039	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2764:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2857:Kcnh8	UTSW	17	52977933	missense	probably benign
R2898:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2987:Kcnh8	UTSW	17	52956735	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R3157:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R3158:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4080:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4081:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4082:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4087:Kcnh8	UTSW	17	52803400	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4158:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4213:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4301:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4302:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4383:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4385:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4400:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4490:Kcnh8	UTSW	17	52961877	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4494:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52602836	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	52725870	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	52905220	splice site	probably null
R4927:Kcnh8	UTSW	17	52877981	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	52877967	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	52893930	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	52898458	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	52905015	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	52725995	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	52977816	missense	possibly damaging	0.71
R5500:Kcnh8	UTSW	17	52725980	missense	probably benign	0.00
R5714:Kcnh8	UTSW	17	52978122	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	52956776	missense	probably benign	0.05
R5903:Kcnh8	UTSW	17	52803336	missense	possibly damaging	0.87
R6969:Kcnh8	UTSW	17	52877943	nonsense	probably null
R6994:Kcnh8	UTSW	17	52977695	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	52905010	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	52894117	splice site	probably null
R7228:Kcnh8	UTSW	17	52956716	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	52894101	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	52961843	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	52956715	missense	probably benign
R7952:Kcnh8	UTSW	17	52959465	missense	probably benign	0.02
R8176:Kcnh8	UTSW	17	52978094	missense	probably damaging	1.00
R8190:Kcnh8	UTSW	17	52956908	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	52905073	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	52978292	missense	probably benign
R8716:Kcnh8	UTSW	17	52977752	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	52797458	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	52834614	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	52839208	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	52978140	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	52898514	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	52839056	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	52878061	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	52797545	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF021:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	52725890	missense	probably damaging	1.00
Z1088:Kcnh8	UTSW	17	52978292	missense	probably benign
Z1176:Kcnh8	UTSW	17	52894061	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	52803471	missense	probably damaging	1.00
Z1177:Kcnh8	UTSW	17	52978093	missense	possibly damaging	0.91

Posted On

2014-05-07