Mutagenetix > Incidental Mutation

Incidental Mutation 'R2760:Kcnh8'

254023

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 #

R2760 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

small deletion (8 aa in frame mutation)

DNA Base Change (assembly)

GAGACCAACGAGCAGCTGATGCTTCAGA to GAGA at 52725906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

at position 74 (74)

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: 74

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: 74

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg11	C	A	8: 22,068,079 (GRCm38)	A469E	probably benign	Het
Atp8a2	C	T	14: 59,860,192 (GRCm38)	V796I	probably benign	Het
Btnl1	T	G	17: 34,381,038 (GRCm38)	W172G	probably damaging	Het
Ceacam1	T	C	7: 25,477,474 (GRCm38)	T21A	probably damaging	Het
Fam69b	A	G	2: 26,635,825 (GRCm38)	H257R	probably benign	Het
Frmpd1	A	C	4: 45,244,667 (GRCm38)	I119L	possibly damaging	Het
Haus6	A	T	4: 86,583,176 (GRCm38)	Y819*	probably null	Het
Ildr2	A	G	1: 166,303,606 (GRCm38)	R344G	probably damaging	Het
Irs1	T	C	1: 82,288,570 (GRCm38)	I642V	probably damaging	Het
Lum	T	C	10: 97,568,771 (GRCm38)	V176A	probably benign	Het
Nobox	A	G	6: 43,304,106 (GRCm38)	L478P	probably damaging	Het
Olfr1200	T	A	2: 88,767,636 (GRCm38)	R226S	possibly damaging	Het
Olfr1415	A	G	1: 92,491,080 (GRCm38)	V225A	probably damaging	Het
Olfr544	T	C	7: 102,484,376 (GRCm38)	H248R	probably damaging	Het
Olfr8	A	T	10: 78,956,042 (GRCm38)	Y279F	probably damaging	Het
Olfr981	T	A	9: 40,022,396 (GRCm38)	M1K	probably null	Het
Rtn1	A	T	12: 72,408,362 (GRCm38)	C64S	probably benign	Het
Senp6	A	G	9: 80,121,978 (GRCm38)	Y285C	probably null	Het
Slco1a5	C	A	6: 142,250,271 (GRCm38)	M335I	probably benign	Het
Spg11	A	T	2: 122,097,359 (GRCm38)	I648K	probably damaging	Het
Ube2cbp	T	C	9: 86,422,974 (GRCm38)	I272V	probably benign	Het
Ulk1	C	T	5: 110,789,357 (GRCm38)	R691Q	probably benign	Het
Utrn	A	G	10: 12,690,878 (GRCm38)	V1180A	probably damaging	Het
Vill	T	C	9: 119,066,882 (GRCm38)		probably null	Het
Vmn2r101	T	C	17: 19,589,639 (GRCm38)	I229T	probably benign	Het
Zbtb8b	A	T	4: 129,432,500 (GRCm38)	L291M	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
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
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'- GCCTGACTGAAGTTGTGTCTTAAAC -3'
(R):5'- CATGTTCCCTGGAGAACTTCTC -3'

Sequencing Primer
(F):5'- GACTGAAGTTGTGTCTTAAACAAAAG -3'
(R):5'- CTTCTCCCAAACACTATAATTGAGTG -3'

Posted On

2014-12-04