Mutagenetix > Incidental Mutation

Incidental Mutation 'R9640:Kcnh8'

725949

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9640 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52909737-53286222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53185089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 457 (I457T)

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: I457T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: I457T

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: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	C	16: 14,436,589 (GRCm39)	V214A		Het
A830018L16Rik	A	G	1: 12,021,200 (GRCm39)	K403R	probably damaging	Het
Aadacl4fm4	T	A	4: 144,412,809 (GRCm39)	R44W	possibly damaging	Het
Abhd17c	A	T	7: 83,800,814 (GRCm39)	L80Q	probably damaging	Het
Adam30	T	A	3: 98,069,620 (GRCm39)	D484E	probably damaging	Het
Aspm	T	A	1: 139,408,010 (GRCm39)	V2299E	possibly damaging	Het
Atp6v1c1	C	T	15: 38,689,381 (GRCm39)	R281W	probably damaging	Het
Bclaf1	T	C	10: 20,201,553 (GRCm39)		probably null	Het
Ccdc50	T	C	16: 27,225,461 (GRCm39)	V58A	probably damaging	Het
Cep162	A	G	9: 87,126,352 (GRCm39)	S187P	probably benign	Het
Clip4	C	T	17: 72,163,264 (GRCm39)	T612M	possibly damaging	Het
Corin	C	T	5: 72,592,597 (GRCm39)	V267I	probably benign	Het
Cyp2c37	T	A	19: 40,000,180 (GRCm39)	I434K	probably benign	Het
Ddx43	T	G	9: 78,303,389 (GRCm39)	D76E	probably benign	Het
Dusp5	A	G	19: 53,526,051 (GRCm39)	E231G	probably damaging	Het
Fam114a1	G	A	5: 65,166,394 (GRCm39)	V242I	probably damaging	Het
Frem1	T	A	4: 82,831,896 (GRCm39)	R1973S	probably benign	Het
Gas2l3	A	T	10: 89,266,774 (GRCm39)	D55E	probably damaging	Het
Grwd1	T	C	7: 45,477,303 (GRCm39)	I195V	probably benign	Het
H2-M1	G	T	17: 36,983,031 (GRCm39)	T20K	probably benign	Het
H2-Q2	T	G	17: 35,562,206 (GRCm39)	L151R	probably damaging	Het
Hbegf	T	C	18: 36,640,643 (GRCm39)	Y138C	probably damaging	Het
Hectd1	C	A	12: 51,795,197 (GRCm39)	E2411*	probably null	Het
Igkv11-125	T	A	6: 67,890,783 (GRCm39)	S34T	possibly damaging	Het
Jam2	A	T	16: 84,609,960 (GRCm39)	T191S	probably benign	Het
Khk	A	G	5: 31,079,303 (GRCm39)	D15G	probably damaging	Het
Lrba	T	A	3: 86,526,875 (GRCm39)	Y2244*	probably null	Het
Lrp1b	T	C	2: 41,078,929 (GRCm39)	N1841S		Het
Lrp4	A	G	2: 91,316,296 (GRCm39)	T805A	probably benign	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Map3k1	A	T	13: 111,900,699 (GRCm39)	L442*	probably null	Het
Mapk8ip3	T	C	17: 25,155,647 (GRCm39)	N61S	possibly damaging	Het
Matcap2	A	T	9: 22,351,228 (GRCm39)	I457L	possibly damaging	Het
Mdn1	T	A	4: 32,754,539 (GRCm39)	V4685E	probably damaging	Het
Mib2	T	C	4: 155,745,325 (GRCm39)	E134G	possibly damaging	Het
Mtss2	T	C	8: 111,464,575 (GRCm39)	V403A	probably benign	Het
Ndst4	C	A	3: 125,232,196 (GRCm39)	T255K	probably damaging	Het
Or1i2	G	C	10: 78,448,311 (GRCm39)	L55V	probably damaging	Het
Or2l13	A	T	16: 19,305,761 (GRCm39)	M58L	probably damaging	Het
Or5ae2	G	A	7: 84,506,114 (GRCm39)	C181Y	probably damaging	Het
Or8g20	A	G	9: 39,396,396 (GRCm39)	L51P	probably damaging	Het
Pak1	T	A	7: 97,515,355 (GRCm39)	D126E	probably benign	Het
Rgl1	T	C	1: 152,397,142 (GRCm39)	T675A	probably damaging	Het
Rgs1	T	C	1: 144,121,116 (GRCm39)	D185G	probably damaging	Het
Rnase2a	G	A	14: 51,493,117 (GRCm39)	R83C	probably damaging	Het
Sfmbt2	A	G	2: 10,583,994 (GRCm39)	T784A	probably damaging	Het
Slc6a21	A	T	7: 44,937,189 (GRCm39)	T272S		Het
Sorcs2	G	T	5: 36,222,765 (GRCm39)	S330*	probably null	Het
Spdef	G	T	17: 27,936,183 (GRCm39)	H253Q		Het
Tas2r144	A	G	6: 42,192,428 (GRCm39)	E56G	probably benign	Het
Trim66	A	G	7: 109,074,825 (GRCm39)	C479R	probably damaging	Het
Ttc36	A	T	9: 44,714,034 (GRCm39)	L28Q	probably benign	Het
Ugt1a5	T	C	1: 88,094,098 (GRCm39)	S109P	possibly damaging	Het
Vamp5	G	A	6: 72,347,276 (GRCm39)		probably benign	Het
Wwox	A	G	8: 115,166,540 (GRCm39)	D10G	possibly damaging	Het
Zfp40	T	C	17: 23,394,493 (GRCm39)	Y698C	probably damaging	Het
Zfp62	A	G	11: 49,106,458 (GRCm39)	D183G	probably benign	Het
Zfp932	T	C	5: 110,157,064 (GRCm39)	V254A	probably benign	Het
Zfp943	T	A	17: 22,209,899 (GRCm39)	L57H	probably damaging	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
R8176:Kcnh8	UTSW	17	53,285,122 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGGGGAAGAGACTGGAATCTC -3'
(R):5'- GCCTTTCATCTGCCCAGAAG -3'

Sequencing Primer
(F):5'- TCACAAGCGTTGGGTTTG -3'
(R):5'- ACCACCATAGTCTCTGCTAATTTATG -3'

Posted On

2022-09-12