Mutagenetix > Incidental Mutation

Incidental Mutation 'R5500:Kcnh8'

430583

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

MMRRC Submission

043061-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5500 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52725980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 98 (M98I)

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: M98I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: M98I

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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.6%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,303,389 (GRCm38)	Q864L	probably benign	Het
AI182371	A	G	2: 35,100,638 (GRCm38)	S16P	probably damaging	Het
Amy1	A	T	3: 113,562,722 (GRCm38)	Y262N	probably damaging	Het
Cdh23	T	C	10: 60,314,311 (GRCm38)	D2583G	probably damaging	Het
Ddx60	A	G	8: 61,950,451 (GRCm38)	K303E	probably benign	Het
Dis3l2	T	C	1: 87,021,119 (GRCm38)		probably null	Het
Evi5l	T	A	8: 4,191,658 (GRCm38)	M329K	probably damaging	Het
Fam169b	A	G	7: 68,350,369 (GRCm38)	D221G	probably damaging	Het
Farsb	T	C	1: 78,471,124 (GRCm38)	D126G	probably damaging	Het
Gm4847	A	G	1: 166,635,042 (GRCm38)	I293T	probably damaging	Het
Ighmbp2	T	C	19: 3,268,687 (GRCm38)	H463R	possibly damaging	Het
Iigp1c	G	A	18: 60,246,020 (GRCm38)	R209H	probably damaging	Het
Kank1	A	T	19: 25,424,332 (GRCm38)	D1101V	possibly damaging	Het
Kdsr	A	G	1: 106,759,644 (GRCm38)		probably benign	Het
Kif18b	A	T	11: 102,915,700 (GRCm38)	V107E	probably damaging	Het
Klhl41	A	G	2: 69,683,529 (GRCm38)	E584G	probably damaging	Het
Kpnb1	G	A	11: 97,173,111 (GRCm38)	A389V	possibly damaging	Het
Krtap31-2	A	G	11: 99,936,347 (GRCm38)	T2A	possibly damaging	Het
Lama3	A	T	18: 12,456,764 (GRCm38)	I784F	possibly damaging	Het
Lpar1	G	A	4: 58,486,573 (GRCm38)	R233C	probably benign	Het
Neb	C	A	2: 52,162,067 (GRCm38)		probably null	Het
Neo1	A	G	9: 58,917,054 (GRCm38)	I697T	possibly damaging	Het
Ntaq1	T	C	15: 58,152,610 (GRCm38)	V85A	possibly damaging	Het
Pgm2l1	T	G	7: 100,268,133 (GRCm38)	S486A	probably benign	Het
Prpf40a	A	T	2: 53,145,284 (GRCm38)	S748R	probably benign	Het
Recql4	A	G	15: 76,705,578 (GRCm38)		probably benign	Het
Rhbdl1	T	C	17: 25,836,554 (GRCm38)	T20A	possibly damaging	Het
Ric8a	T	C	7: 140,858,315 (GRCm38)	Y156H	probably benign	Het
Rnf111	C	A	9: 70,476,043 (GRCm38)	G203C	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495 (GRCm38)	R265L	probably benign	Het
Slc2a12	G	A	10: 22,665,137 (GRCm38)	G297E	probably damaging	Het
Slc35f1	A	T	10: 52,933,222 (GRCm38)	I102F	probably damaging	Het
Slc45a2	C	T	15: 11,027,785 (GRCm38)	T480I	probably damaging	Het
Slitrk3	T	C	3: 73,050,347 (GRCm38)	Y364C	probably damaging	Het
Tdrd9	T	C	12: 112,023,268 (GRCm38)	Y505H	probably benign	Het
Tlr1	G	T	5: 64,927,098 (GRCm38)	D45E	probably benign	Het
Upp1	G	A	11: 9,131,774 (GRCm38)	V104M	probably damaging	Het
Usp9y	A	G	Y: 1,341,875 (GRCm38)	V1330A	probably damaging	Het
Zbed5	T	A	5: 129,901,982 (GRCm38)	Y257*	probably null	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	52,834,680 (GRCm38)	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	52,894,120 (GRCm38)	splice site	probably benign
IGL01959:Kcnh8	APN	17	52,834,607 (GRCm38)	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	52,877,911 (GRCm38)	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	52,803,528 (GRCm38)	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	52,898,497 (GRCm38)	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	52,959,443 (GRCm38)	missense	probably benign	0.00
IGL02931:Kcnh8	APN	17	52,956,622 (GRCm38)	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	52,956,767 (GRCm38)	missense	probably benign	0.22
Incompetent	UTSW	17	52,894,101 (GRCm38)	missense	probably damaging	1.00
leak	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R0282:Kcnh8	UTSW	17	52,725,851 (GRCm38)	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	52,977,620 (GRCm38)	splice site	probably null
R0496:Kcnh8	UTSW	17	52,725,858 (GRCm38)	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	52,894,005 (GRCm38)	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	52,978,113 (GRCm38)	nonsense	probably null
R0891:Kcnh8	UTSW	17	52,905,214 (GRCm38)	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	52,725,899 (GRCm38)	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	52,803,484 (GRCm38)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52,893,961 (GRCm38)	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52,893,960 (GRCm38)	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	52,956,881 (GRCm38)	missense	probably benign
R1657:Kcnh8	UTSW	17	52,839,125 (GRCm38)	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	52,893,968 (GRCm38)	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	52,893,933 (GRCm38)	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1804:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1929:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1980:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1981:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R1982:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2016:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2017:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2132:Kcnh8	UTSW	17	52,893,933 (GRCm38)	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	52,893,933 (GRCm38)	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2265:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2266:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2267:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2303:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2309:Kcnh8	UTSW	17	52,978,039 (GRCm38)	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2764:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2857:Kcnh8	UTSW	17	52,977,933 (GRCm38)	missense	probably benign
R2898:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R2987:Kcnh8	UTSW	17	52,956,735 (GRCm38)	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R3157:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R3158:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4080:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4081:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4082:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4087:Kcnh8	UTSW	17	52,803,400 (GRCm38)	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4158:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4213:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4301:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4302:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4383:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4385:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4400:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4490:Kcnh8	UTSW	17	52,961,877 (GRCm38)	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4494:Kcnh8	UTSW	17	52,725,906 (GRCm38)	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52,602,836 (GRCm38)	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	52,725,870 (GRCm38)	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	52,905,220 (GRCm38)	splice site	probably null
R4927:Kcnh8	UTSW	17	52,877,981 (GRCm38)	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	52,877,967 (GRCm38)	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	52,893,930 (GRCm38)	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	52,898,458 (GRCm38)	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	52,905,015 (GRCm38)	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	52,725,995 (GRCm38)	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	52,977,816 (GRCm38)	missense	possibly damaging	0.71
R5714:Kcnh8	UTSW	17	52,978,122 (GRCm38)	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	52,956,776 (GRCm38)	missense	probably benign	0.05
R5903:Kcnh8	UTSW	17	52,803,336 (GRCm38)	missense	possibly damaging	0.87
R6969:Kcnh8	UTSW	17	52,877,943 (GRCm38)	nonsense	probably null
R6994:Kcnh8	UTSW	17	52,977,695 (GRCm38)	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	52,905,010 (GRCm38)	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	52,894,117 (GRCm38)	splice site	probably null
R7228:Kcnh8	UTSW	17	52,956,716 (GRCm38)	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	52,894,101 (GRCm38)	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	52,961,843 (GRCm38)	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	52,956,715 (GRCm38)	missense	probably benign
R7952:Kcnh8	UTSW	17	52,959,465 (GRCm38)	missense	probably benign	0.02
R8176:Kcnh8	UTSW	17	52,978,094 (GRCm38)	missense	probably damaging	1.00
R8190:Kcnh8	UTSW	17	52,956,908 (GRCm38)	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	52,905,073 (GRCm38)	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	52,978,292 (GRCm38)	missense	probably benign
R8716:Kcnh8	UTSW	17	52,977,752 (GRCm38)	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	52,797,458 (GRCm38)	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	52,834,614 (GRCm38)	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	52,839,208 (GRCm38)	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	52,978,140 (GRCm38)	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	52,898,514 (GRCm38)	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	52,839,056 (GRCm38)	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	52,878,061 (GRCm38)	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	52,797,545 (GRCm38)	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF021:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	52,978,239 (GRCm38)	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	52,978,292 (GRCm38)	missense	probably benign
Z1088:Kcnh8	UTSW	17	52,725,890 (GRCm38)	missense	probably damaging	1.00
Z1176:Kcnh8	UTSW	17	52,894,061 (GRCm38)	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	52,978,093 (GRCm38)	missense	possibly damaging	0.91
Z1177:Kcnh8	UTSW	17	52,803,471 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGATAGCAACTTCATCCTGGC -3'
(R):5'- ACGTTCCATGTGATTTATGCTG -3'

Sequencing Primer
(F):5'- CAAGTGGCAAAGGGTTTCCC -3'
(R):5'- ATTTATGCTGTTGGTGATGGAAAC -3'

Posted On

2016-10-05