Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Kcnh8'

456472

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

044101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52602709-52979194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52803336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 192 (V192L)

Ref Sequence

ENSEMBL: ENSMUSP00000049206 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039366
AA Change: V192L

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: V192L

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,173,772	Q745*	probably null	Het
Cep97	G	A	16: 55,919,526	S185L	probably damaging	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Edc4	A	G	8: 105,890,587	T1029A	probably benign	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kdm3a	C	A	6: 71,632,250		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Oas1h	T	C	5: 120,870,977	V250A	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sart3	T	C	5: 113,751,239	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	Het

Other mutations in Kcnh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Kcnh8	APN	17	52834680	missense	probably damaging	1.00
IGL01901:Kcnh8	APN	17	52894120	splice site	probably benign
IGL01959:Kcnh8	APN	17	52834607	missense	probably damaging	1.00
IGL02214:Kcnh8	APN	17	52877911	missense	possibly damaging	0.88
IGL02528:Kcnh8	APN	17	52803528	missense	probably damaging	1.00
IGL02620:Kcnh8	APN	17	52898497	missense	probably damaging	0.99
IGL02688:Kcnh8	APN	17	52959443	missense	probably benign	0.00
IGL02931:Kcnh8	APN	17	52956622	missense	probably benign	0.00
IGL02950:Kcnh8	APN	17	52956767	missense	probably benign	0.22
Incompetent	UTSW	17	52894101	missense	probably damaging	1.00
leak	UTSW	17	52725906	small deletion	probably benign
R0282:Kcnh8	UTSW	17	52725851	missense	probably damaging	1.00
R0448:Kcnh8	UTSW	17	52977620	splice site	probably null
R0496:Kcnh8	UTSW	17	52725858	missense	probably benign	0.19
R0601:Kcnh8	UTSW	17	52894005	missense	probably damaging	1.00
R0671:Kcnh8	UTSW	17	52978113	nonsense	probably null
R0891:Kcnh8	UTSW	17	52905214	missense	probably damaging	1.00
R0971:Kcnh8	UTSW	17	52725899	missense	probably benign	0.00
R1054:Kcnh8	UTSW	17	52803484	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52893960	missense	probably damaging	1.00
R1237:Kcnh8	UTSW	17	52893961	missense	probably damaging	1.00
R1565:Kcnh8	UTSW	17	52956881	missense	probably benign
R1657:Kcnh8	UTSW	17	52839125	missense	probably damaging	1.00
R1669:Kcnh8	UTSW	17	52893968	missense	probably damaging	1.00
R1786:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R1803:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1804:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1929:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1980:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1981:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R1982:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2016:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2017:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2132:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R2133:Kcnh8	UTSW	17	52893933	missense	probably damaging	1.00
R2208:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2265:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2266:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2267:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2303:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2309:Kcnh8	UTSW	17	52978039	missense	probably damaging	1.00
R2760:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2764:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2857:Kcnh8	UTSW	17	52977933	missense	probably benign
R2898:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R2987:Kcnh8	UTSW	17	52956735	missense	probably benign	0.05
R3031:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R3157:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R3158:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4080:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4081:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4082:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4087:Kcnh8	UTSW	17	52803400	missense	possibly damaging	0.93
R4132:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4158:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4213:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4301:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4302:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4383:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4385:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4400:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4490:Kcnh8	UTSW	17	52961877	critical splice donor site	probably null
R4493:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4494:Kcnh8	UTSW	17	52725906	small deletion	probably benign
R4611:Kcnh8	UTSW	17	52602836	missense	probably benign	0.22
R4728:Kcnh8	UTSW	17	52725870	missense	probably damaging	1.00
R4810:Kcnh8	UTSW	17	52905220	splice site	probably null
R4927:Kcnh8	UTSW	17	52877981	missense	probably damaging	1.00
R4984:Kcnh8	UTSW	17	52877967	missense	probably damaging	1.00
R5017:Kcnh8	UTSW	17	52893930	missense	probably damaging	1.00
R5214:Kcnh8	UTSW	17	52898458	missense	probably damaging	1.00
R5272:Kcnh8	UTSW	17	52905015	missense	probably damaging	0.97
R5386:Kcnh8	UTSW	17	52725995	missense	probably benign	0.10
R5472:Kcnh8	UTSW	17	52977816	missense	possibly damaging	0.71
R5500:Kcnh8	UTSW	17	52725980	missense	probably benign	0.00
R5714:Kcnh8	UTSW	17	52978122	missense	probably benign	0.31
R5866:Kcnh8	UTSW	17	52956776	missense	probably benign	0.05
R6969:Kcnh8	UTSW	17	52877943	nonsense	probably null
R6994:Kcnh8	UTSW	17	52977695	missense	probably benign	0.02
R7101:Kcnh8	UTSW	17	52905010	missense	probably damaging	1.00
R7189:Kcnh8	UTSW	17	52894117	splice site	probably null
R7228:Kcnh8	UTSW	17	52956716	missense	probably benign	0.01
R7372:Kcnh8	UTSW	17	52894101	missense	probably damaging	1.00
R7751:Kcnh8	UTSW	17	52961843	missense	probably damaging	1.00
R7819:Kcnh8	UTSW	17	52956715	missense	probably benign
R7952:Kcnh8	UTSW	17	52959465	missense	probably benign	0.02
R8176:Kcnh8	UTSW	17	52978094	missense	probably damaging	1.00
R8190:Kcnh8	UTSW	17	52956908	missense	probably damaging	1.00
R8407:Kcnh8	UTSW	17	52905073	missense	probably damaging	1.00
R8473:Kcnh8	UTSW	17	52978292	missense	probably benign
R8716:Kcnh8	UTSW	17	52977752	missense	probably benign	0.02
R8943:Kcnh8	UTSW	17	52797458	missense	probably benign	0.00
R9051:Kcnh8	UTSW	17	52834614	missense	probably damaging	1.00
R9211:Kcnh8	UTSW	17	52839208	missense	probably damaging	1.00
R9233:Kcnh8	UTSW	17	52978140	missense	probably damaging	1.00
R9243:Kcnh8	UTSW	17	52898514	missense	probably damaging	1.00
R9327:Kcnh8	UTSW	17	52839056	missense	probably damaging	0.99
R9640:Kcnh8	UTSW	17	52878061	missense	probably damaging	1.00
R9646:Kcnh8	UTSW	17	52797545	missense	probably benign	0.25
RF009:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF010:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF011:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF021:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
RF022:Kcnh8	UTSW	17	52978239	missense	probably benign	0.00
Z1088:Kcnh8	UTSW	17	52725890	missense	probably damaging	1.00
Z1088:Kcnh8	UTSW	17	52978292	missense	probably benign
Z1176:Kcnh8	UTSW	17	52894061	missense	probably damaging	0.98
Z1177:Kcnh8	UTSW	17	52803471	missense	probably damaging	1.00
Z1177:Kcnh8	UTSW	17	52978093	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCACAGCACAGTTGGGTAG -3'
(R):5'- CAATGTCACTGACCGTTGTG -3'

Sequencing Primer
(F):5'- GCACAGGACAGTAGACTCATGTTAC -3'
(R):5'- GACAGGTCCTCATTGCCAATG -3'

Posted On

2017-02-15