Mutagenetix > Incidental Mutation

Incidental Mutation 'R4490:Kcnh8'

330698

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

041746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4490 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 52961877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049206 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184279

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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
Abl2	T	C	1: 156,633,779 (GRCm38)	V417A	probably damaging	Het
Adgrb2	T	C	4: 130,012,328 (GRCm38)	V881A	possibly damaging	Het
Arl5c	G	A	11: 97,995,836 (GRCm38)	R10*	probably null	Het
Atad1	A	G	19: 32,695,797 (GRCm38)	C229R	probably benign	Het
Atp6v0a2	T	C	5: 124,646,734 (GRCm38)	V319A	probably damaging	Het
Cage1	A	G	13: 38,023,417 (GRCm38)	S257P	possibly damaging	Het
Ccndbp1	A	G	2: 121,012,395 (GRCm38)	D179G	probably damaging	Het
Cngb3	T	C	4: 19,415,684 (GRCm38)	I398T	probably benign	Het
Crmp1	A	G	5: 37,276,331 (GRCm38)	D178G	probably damaging	Het
Csmd3	C	T	15: 48,314,033 (GRCm38)	V370I	possibly damaging	Het
Dapk1	A	G	13: 60,718,128 (GRCm38)	T180A	probably benign	Het
Dmtf1	A	G	5: 9,140,379 (GRCm38)		probably benign	Het
Dnah12	T	C	14: 26,734,603 (GRCm38)	L827S	possibly damaging	Het
F5	T	C	1: 164,217,395 (GRCm38)	V2084A	probably benign	Het
Fan1	A	T	7: 64,369,180 (GRCm38)	S476T	possibly damaging	Het
Far2	T	C	6: 148,173,409 (GRCm38)	L380P	possibly damaging	Het
Gbp2	A	G	3: 142,623,764 (GRCm38)	N24S	probably benign	Het
Gm14325	T	C	2: 177,832,983 (GRCm38)	H101R	possibly damaging	Het
Gpr55	C	T	1: 85,941,818 (GRCm38)	V14M	probably damaging	Het
Herc6	A	T	6: 57,654,495 (GRCm38)	Y724F	probably damaging	Het
Impg1	T	A	9: 80,394,059 (GRCm38)	Q195L	probably damaging	Het
Inf2	T	C	12: 112,600,204 (GRCm38)	F68L	probably damaging	Het
Klb	A	G	5: 65,375,794 (GRCm38)	N482S	probably benign	Het
Kpnb1	A	G	11: 97,171,598 (GRCm38)	V447A	probably benign	Het
Nckap5l	G	A	15: 99,426,130 (GRCm38)	P831S	probably benign	Het
Ncor2	A	G	5: 125,036,815 (GRCm38)		probably null	Het
Olfr32	A	T	2: 90,138,917 (GRCm38)	V74D	probably damaging	Het
Pgm3	T	C	9: 86,561,840 (GRCm38)	Y337C	probably damaging	Het
Prdm1	G	T	10: 44,446,907 (GRCm38)	Y197*	probably null	Het
Prdm4	A	T	10: 85,900,899 (GRCm38)	C626S	probably damaging	Het
Prex2	T	A	1: 11,162,263 (GRCm38)	S851R	probably benign	Het
Ranbp6	A	G	19: 29,810,333 (GRCm38)	L873P	probably damaging	Het
Rin2	A	G	2: 145,822,274 (GRCm38)	T23A	possibly damaging	Het
Rxra	G	T	2: 27,741,195 (GRCm38)	R118L	probably damaging	Het
Spice1	T	C	16: 44,382,113 (GRCm38)	L750P	probably damaging	Het
Trpm1	C	T	7: 64,208,912 (GRCm38)	Q228*	probably null	Het
Tsc1	A	G	2: 28,670,925 (GRCm38)	D265G	probably damaging	Het
Usp29	T	C	7: 6,961,950 (GRCm38)	I264T	possibly damaging	Het
Vmn2r26	T	C	6: 124,050,738 (GRCm38)	L479P	possibly damaging	Het
Zfp9	A	G	6: 118,465,312 (GRCm38)	S130P	probably benign	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
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
R5500:Kcnh8	UTSW	17	52,725,980 (GRCm38)	missense	probably benign	0.00
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'- ATCTGAGCCTGGGACTAAGG -3'
(R):5'- CAAACAGGGAATGGAGCTTTTG -3'

Sequencing Primer
(F):5'- AAGTTTGAAGTGACAGCTTGGCC -3'
(R):5'- AACAGGGAATGGAGCTTTTGGATTG -3'

Posted On

2015-07-21