Mutagenetix > Incidental Mutation

Incidental Mutation 'RF010:Kcnh8'

603167

Institutional Source

Beutler Lab

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 #

RF010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52978239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1079 (R1079H)

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
AA Change: R1079H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: R1079H

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

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,568,576		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Ankrd28	A	G	14: 31,778,986	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 20,943,911		probably null	Het
B020031M17Rik	A	T	13: 119,950,046	V8E	probably benign	Het
Bend3	T	A	10: 43,510,184	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,141,273		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,947,860		probably benign	Het
Chga	GCA	GCATCA	12: 102,561,403		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 95,303,650		probably null	Het
Cnot3	T	C	7: 3,656,069	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,286,795	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,677,563	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,762,175		probably null	Het
Fmn2	T	A	1: 174,582,015	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 75,000,011		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,060		probably benign	Het
Gli3	A	G	13: 15,726,369	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,913,732	V297A	probably benign	Het
Ifi213	C	G	1: 173,582,153	D462H	probably damaging	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 93,018,290		probably benign	Het
Lpo	A	G	11: 87,821,102	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,306,318		probably benign	Het
Mapk9	A	G	11: 49,854,256		probably benign	Het
Mep1a	G	A	17: 43,486,235	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	AC	ACTTCC	11: 67,086,359		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,627,584		probably benign	Het
Olfr1118	T	A	2: 87,308,840	V37E	possibly damaging	Het
Olfr305	T	C	7: 86,363,386	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,113,451		probably null	Het
Pfkm	T	A	15: 98,129,793	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,626,495		probably null	Het
Prkce	T	C	17: 86,488,199	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,592,263	S93P	probably damaging	Het
Rfc4	T	C	16: 23,127,482	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,858,487		probably benign	Het
Ryr3	G	T	2: 112,775,670	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 23,945,351		probably benign	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sec63	C	A	10: 42,806,624	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,355		probably benign	Het
Slco5a1	G	A	1: 12,871,947	T825I	probably damaging	Het
Stard8	GGA	GGAAGA	X: 99,066,517		probably benign	Het
Stxbp1	A	G	2: 32,821,915	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Syne1	T	A	10: 5,246,386	D3882V	possibly damaging	Het
T	A	G	17: 8,441,708	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,836,940		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,744		probably benign	Het
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,107		probably benign	Het
Thegl	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,016,427		probably benign	Het
Thumpd3	C	T	6: 113,056,045	A248V	probably damaging	Het
Tmem181a	T	C	17: 6,280,703		probably null	Het
Tmem56	T	A	3: 121,228,884	I103L	probably benign	Het
Trim41	A	T	11: 48,807,338	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,790,339	C147*	probably null	Het
Ttll2	C	T	17: 7,351,338	A397T	probably benign	Het
Unc79	T	A	12: 103,112,787	L1737Q	probably benign	Het
Usp47	T	A	7: 112,092,938	V869E	probably damaging	Het
Vmn1r231	T	A	17: 20,889,993	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,039,489	T304I	possibly damaging	Het
Wdr66	TCTCA	T	5: 123,274,161		probably benign	Het
Wrn	T	C	8: 33,288,765	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,036,488		probably benign	Het
Zfyve26	C	T	12: 79,255,338	C1828Y	probably damaging	Het
Znrd1as	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 36,965,063		probably benign	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	52834680	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	52894120	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGTTCCTGAGGTGCATC -3'
(R):5'- AACTTTGCTCAGGCTCCACAC -3'

Sequencing Primer
(F):5'- ACACTGACACCTTTGCAGTC -3'
(R):5'- GGCTCCACACCTGCTAAAAG -3'

Posted On

2019-12-04