Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Kcnh8'

634375

Institutional Source

Beutler Lab

Gene Symbol

Kcnh8

Ensembl Gene

ENSMUSG00000035580

Gene Name

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

Synonyms

ELK1, Kv12.1, C130090D05Rik

MMRRC Submission

067601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52909737-53286222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53285122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1031 (S1031P)

Ref Sequence

ENSEMBL: ENSMUSP00000049206 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039366
AA Change: S1031P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: S1031P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,235,135 (GRCm39)	F172I	noncoding transcript	Het
Aatk	A	G	11: 119,907,241 (GRCm39)	V154A	probably damaging	Het
Abca6	A	C	11: 110,135,020 (GRCm39)	V255G	probably benign	Het
Adam8	T	C	7: 139,568,786 (GRCm39)	K211E	probably benign	Het
Alg12	A	G	15: 88,690,084 (GRCm39)	V470A	possibly damaging	Het
Anks1b	C	A	10: 89,905,353 (GRCm39)	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,640,528 (GRCm39)	Y28C	probably damaging	Het
Bms1	G	T	6: 118,395,411 (GRCm39)	F45L	probably damaging	Het
Btd	T	A	14: 31,384,073 (GRCm39)	F20I	probably benign	Het
C1rl	T	C	6: 124,470,844 (GRCm39)	S51P	probably benign	Het
Capn7	C	A	14: 31,069,729 (GRCm39)	F184L	probably benign	Het
Cd300lg	A	T	11: 101,932,390 (GRCm39)		probably benign	Het
Cdc34	T	C	10: 79,518,362 (GRCm39)	Y39H	probably damaging	Het
Cenpe	A	G	3: 134,935,851 (GRCm39)	K429E	probably damaging	Het
Cfap43	T	C	19: 47,784,114 (GRCm39)	N473S	probably benign	Het
Cntln	C	T	4: 84,806,926 (GRCm39)	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,574,175 (GRCm39)	L1032F	probably benign	Het
Dach1	C	T	14: 98,153,916 (GRCm39)	V392I	probably benign	Het
Dnah14	C	T	1: 181,484,598 (GRCm39)	S1590L	probably damaging	Het
Dsp	T	C	13: 38,376,786 (GRCm39)	Y1524H	possibly damaging	Het
Dusp13b	T	C	14: 21,797,549 (GRCm39)	I103V	possibly damaging	Het
Eeig1	A	G	2: 32,453,624 (GRCm39)	T158A	probably benign	Het
Efhb	T	C	17: 53,707,874 (GRCm39)	Y763C	probably damaging	Het
Fam117a	G	T	11: 95,227,965 (GRCm39)	R25L	unknown	Het
Fcgbp	T	C	7: 27,791,174 (GRCm39)	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,964,965 (GRCm39)	N399K	probably benign	Het
Foxi3	T	A	6: 70,934,017 (GRCm39)	I168N	probably damaging	Het
Frem2	A	T	3: 53,562,761 (GRCm39)	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,582,266 (GRCm39)	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,460,429 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,422,286 (GRCm39)		probably null	Het
Hsf2	T	A	10: 57,381,290 (GRCm39)	Y293*	probably null	Het
Ints10	T	A	8: 69,255,603 (GRCm39)	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,001,957 (GRCm39)	E399G	probably damaging	Het
Itsn1	T	A	16: 91,645,597 (GRCm39)		probably null	Het
Llgl1	A	G	11: 60,597,387 (GRCm39)	T279A	probably benign	Het
Ly6a	C	T	15: 74,868,300 (GRCm39)		probably null	Het
Marchf4	T	C	1: 72,573,998 (GRCm39)	E100G	probably damaging	Het
Mta1	A	G	12: 113,084,456 (GRCm39)	E84G	probably benign	Het
Myh7b	A	G	2: 155,467,886 (GRCm39)	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,317,858 (GRCm39)	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,126,977 (GRCm39)	S428P	probably damaging	Het
Onecut2	A	T	18: 64,473,931 (GRCm39)	T161S	possibly damaging	Het
Or10j27	C	T	1: 172,958,383 (GRCm39)	V134I	probably benign	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or6c5	T	G	10: 129,074,747 (GRCm39)	M243R	probably benign	Het
Pdp2	A	G	8: 105,321,687 (GRCm39)	D512G	probably damaging	Het
Pex11b	G	T	3: 96,551,027 (GRCm39)	V171L	probably benign	Het
Potefam2	T	C	7: 62,432,783 (GRCm39)		probably null	Het
Ppil3	A	T	1: 58,480,078 (GRCm39)	C32*	probably null	Het
Prune2	T	C	19: 17,095,656 (GRCm39)	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,677,605 (GRCm39)	H518N	possibly damaging	Het
Rhot2	T	C	17: 26,063,068 (GRCm39)	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,362,981 (GRCm39)	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,056,252 (GRCm39)	D812G	possibly damaging	Het
Skap2	T	C	6: 51,884,878 (GRCm39)	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,865,117 (GRCm39)	N755S	probably benign	Het
Stat5a	T	A	11: 100,767,689 (GRCm39)	M419K	probably damaging	Het
Tecta	C	T	9: 42,270,465 (GRCm39)	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,374,913 (GRCm39)	S196R	probably benign	Het
Trpm8	A	T	1: 88,292,837 (GRCm39)	H946L	probably benign	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	53,141,708 (GRCm39)	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	53,201,148 (GRCm39)	splice site	probably benign
IGL01959:Kcnh8	APN	17	53,141,635 (GRCm39)	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	53,184,939 (GRCm39)	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	53,110,556 (GRCm39)	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	53,205,525 (GRCm39)	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	53,266,471 (GRCm39)	missense	probably benign	0.00
IGL02931:Kcnh8	APN	17	53,263,650 (GRCm39)	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	53,263,795 (GRCm39)	missense	probably benign	0.22
Incompetent	UTSW	17	53,201,129 (GRCm39)	missense	probably damaging	1.00
leak	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R0282:Kcnh8	UTSW	17	53,032,879 (GRCm39)	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	53,284,648 (GRCm39)	splice site	probably null
R0496:Kcnh8	UTSW	17	53,032,886 (GRCm39)	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	53,201,033 (GRCm39)	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	53,285,141 (GRCm39)	nonsense	probably null
R0891:Kcnh8	UTSW	17	53,212,242 (GRCm39)	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	53,032,927 (GRCm39)	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	53,110,512 (GRCm39)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	53,200,989 (GRCm39)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	53,200,988 (GRCm39)	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	53,263,909 (GRCm39)	missense	probably benign
R1657:Kcnh8	UTSW	17	53,146,153 (GRCm39)	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	53,200,996 (GRCm39)	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	53,200,961 (GRCm39)	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1804:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1929:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1980:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1981:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R1982:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2016:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2017:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2132:Kcnh8	UTSW	17	53,200,961 (GRCm39)	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	53,200,961 (GRCm39)	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2265:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2266:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2267:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2303:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2309:Kcnh8	UTSW	17	53,285,067 (GRCm39)	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2764:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2857:Kcnh8	UTSW	17	53,284,961 (GRCm39)	missense	probably benign
R2898:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R2987:Kcnh8	UTSW	17	53,263,763 (GRCm39)	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R3157:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R3158:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4080:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4081:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4082:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4087:Kcnh8	UTSW	17	53,110,428 (GRCm39)	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4158:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4213:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4301:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4302:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4383:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4385:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4400:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4490:Kcnh8	UTSW	17	53,268,905 (GRCm39)	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4494:Kcnh8	UTSW	17	53,032,934 (GRCm39)	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52,909,864 (GRCm39)	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	53,032,898 (GRCm39)	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	53,212,248 (GRCm39)	splice site	probably null
R4927:Kcnh8	UTSW	17	53,185,009 (GRCm39)	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	53,184,995 (GRCm39)	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	53,200,958 (GRCm39)	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	53,205,486 (GRCm39)	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	53,212,043 (GRCm39)	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	53,033,023 (GRCm39)	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	53,284,844 (GRCm39)	missense	possibly damaging	0.71
R5500:Kcnh8	UTSW	17	53,033,008 (GRCm39)	missense	probably benign	0.00
R5714:Kcnh8	UTSW	17	53,285,150 (GRCm39)	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	53,263,804 (GRCm39)	missense	probably benign	0.05
R5903:Kcnh8	UTSW	17	53,110,364 (GRCm39)	missense	possibly damaging	0.87
R6969:Kcnh8	UTSW	17	53,184,971 (GRCm39)	nonsense	probably null
R6994:Kcnh8	UTSW	17	53,284,723 (GRCm39)	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	53,212,038 (GRCm39)	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	53,201,145 (GRCm39)	splice site	probably null
R7228:Kcnh8	UTSW	17	53,263,744 (GRCm39)	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	53,201,129 (GRCm39)	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	53,268,871 (GRCm39)	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	53,263,743 (GRCm39)	missense	probably benign
R7952:Kcnh8	UTSW	17	53,266,493 (GRCm39)	missense	probably benign	0.02
R8190:Kcnh8	UTSW	17	53,263,936 (GRCm39)	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	53,212,101 (GRCm39)	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	53,285,320 (GRCm39)	missense	probably benign
R8716:Kcnh8	UTSW	17	53,284,780 (GRCm39)	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	53,104,486 (GRCm39)	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	53,141,642 (GRCm39)	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	53,146,236 (GRCm39)	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	53,285,168 (GRCm39)	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	53,205,542 (GRCm39)	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	53,146,084 (GRCm39)	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	53,185,089 (GRCm39)	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	53,104,573 (GRCm39)	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF021:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	53,285,267 (GRCm39)	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	53,285,320 (GRCm39)	missense	probably benign
Z1088:Kcnh8	UTSW	17	53,032,918 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnh8	UTSW	17	53,201,089 (GRCm39)	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	53,285,121 (GRCm39)	missense	possibly damaging	0.91
Z1177:Kcnh8	UTSW	17	53,110,499 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGATCCATCCTTGGTGGGC -3'
(R):5'- ATCCGCTGTGCTTGTGACAAC -3'

Sequencing Primer
(F):5'- ATCCTTGGTGGGCAGCAG -3'
(R):5'- GCTTGTGACAACTTCTACTGGAAAG -3'

Posted On

2020-07-13