Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Kcnh6'

489206

Institutional Source

Beutler Lab

Gene Symbol

Kcnh6

Ensembl Gene

ENSMUSG00000001901

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 6

Synonyms

m-erg2

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6150 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

106008124-106034549 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106020731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 595 (V595M)

Ref Sequence

ENSEMBL: ENSMUSP00000102516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000106903] [ENSMUST00000145539]

AlphaFold

Q32ME0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001965
AA Change: V648M

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: V648M

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	2e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
Pfam:Ion_trans	256	523	6.8e-40	PFAM
Pfam:Ion_trans_2	445	517	2.6e-13	PFAM
cNMP	594	712	3.21e-23	SMART
coiled coil region	782	809	N/A	INTRINSIC
low complexity region	901	912	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106903
AA Change: V595M

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: V595M

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	3e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
transmembrane domain	258	280	N/A	INTRINSIC
Pfam:Ion_trans	302	420	6.2e-10	PFAM
Pfam:Ion_trans_2	395	464	2.6e-9	PFAM
cNMP	541	659	3.21e-23	SMART
coiled coil region	729	756	N/A	INTRINSIC
low complexity region	848	859	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140695

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145539
AA Change: V648M

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: V648M

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	3e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
transmembrane domain	261	283	N/A	INTRINSIC
Pfam:Ion_trans	302	511	1.4e-22	PFAM
Pfam:Ion_trans_2	442	517	2e-13	PFAM
cNMP	594	712	3.21e-23	SMART
low complexity region	764	775	N/A	INTRINSIC

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,213,508	T74A	probably benign	Het
Arhgef1	T	C	7: 24,919,357		probably null	Het
Art1	C	G	7: 102,107,087	R162G	probably benign	Het
Boll	T	A	1: 55,270,653	I280F	possibly damaging	Het
Cep44	T	C	8: 56,539,805	E258G	probably benign	Het
Cutc	T	A	19: 43,759,889	V75E	probably damaging	Het
Dtx1	T	C	5: 120,681,363	K590R	probably damaging	Het
Eps8	A	T	6: 137,517,174	D295E	probably damaging	Het
Erc2	C	A	14: 28,141,291	S491Y	probably damaging	Het
F2rl3	G	T	8: 72,762,738	A198S	probably benign	Het
Fam83b	G	A	9: 76,492,357	T488M	probably damaging	Het
Fitm2	A	G	2: 163,470,074	L73P	probably damaging	Het
Fxyd1	T	C	7: 31,054,803		probably null	Het
Gm17186	T	C	14: 51,680,726		noncoding transcript	Het
Hivep3	C	A	4: 119,734,077	S94*	probably null	Het
Ifna1	T	A	4: 88,850,112	M9K	probably null	Het
Igsf11	G	A	16: 39,023,349	E275K	probably damaging	Het
Itga1	G	A	13: 114,968,233	L1086F	probably benign	Het
Itgav	T	C	2: 83,776,436	S374P	probably benign	Het
Jmy	A	T	13: 93,441,133	N842K	probably benign	Het
Kif13b	T	A	14: 64,751,639	I823N	probably damaging	Het
Kif26b	T	C	1: 178,915,546	L1069P	probably damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,588,477		probably benign	Het
Map10	G	A	8: 125,671,589	D574N	probably damaging	Het
Mau2	A	T	8: 70,019,837	H565Q	probably benign	Het
Myb	A	G	10: 21,141,769	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,552,050	G15V	probably null	Het
Olfr370	G	A	8: 83,541,153	C3Y	probably benign	Het
Olfr399	A	C	11: 74,054,319	S147A	probably benign	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Olfr867	A	T	9: 20,054,874	N78K	probably benign	Het
Otog	A	G	7: 46,264,059	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,269,564	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,737,139		probably null	Het
Pomk	A	G	8: 25,983,256	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Serpina1e	A	G	12: 103,950,807	V201A	probably benign	Het
Six5	C	T	7: 19,097,521	P646S	probably benign	Het
Slc17a9	A	G	2: 180,737,628	I298V	probably benign	Het
Slc37a2	G	T	9: 37,238,347	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,245,618	F525I	probably benign	Het
Slit2	A	T	5: 48,304,174	D1504V	probably damaging	Het
Srcap	T	A	7: 127,534,828	M907K	probably damaging	Het
Sspo	T	C	6: 48,486,379	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,435,722	N376K	possibly damaging	Het
Tekt3	A	T	11: 63,094,657	T430S	possibly damaging	Het
Tex2	A	T	11: 106,567,080	V508D	probably benign	Het
Tmem184c	G	T	8: 77,596,440	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,617,954	R42*	probably null	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vangl1	T	C	3: 102,184,519	T84A	probably damaging	Het
Vgll3	T	A	16: 65,828,178		probably null	Het
Vmn1r61	T	A	7: 5,610,679	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,291,295	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,786,556	D727E	probably damaging	Het
Vps18	T	A	2: 119,297,592	Y965*	probably null	Het
Zfp521	A	T	18: 13,844,078	C1093S	probably damaging	Het
Zfp971	A	C	2: 178,033,454	H282P	probably benign	Het

Other mutations in Kcnh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Kcnh6	APN	11	106019019	missense	probably damaging	1.00
IGL01349:Kcnh6	APN	11	106023917	missense	possibly damaging	0.82
IGL01529:Kcnh6	APN	11	106020696	missense	probably benign	0.07
IGL01555:Kcnh6	APN	11	106017619	missense	probably damaging	0.99
IGL01596:Kcnh6	APN	11	106026746	missense	probably benign	0.02
IGL01808:Kcnh6	APN	11	106023927	splice site	probably benign
IGL02001:Kcnh6	APN	11	106027549	splice site	probably benign
IGL02131:Kcnh6	APN	11	106020175	missense	probably damaging	1.00
IGL02254:Kcnh6	APN	11	106020707	missense	probably damaging	1.00
IGL02413:Kcnh6	APN	11	106027634	missense	possibly damaging	0.77
R0089:Kcnh6	UTSW	11	106009022	missense	probably benign	0.31
R1914:Kcnh6	UTSW	11	106017444	nonsense	probably null
R1915:Kcnh6	UTSW	11	106017444	nonsense	probably null
R2265:Kcnh6	UTSW	11	106033817	missense	probably benign
R2325:Kcnh6	UTSW	11	106033835	missense	probably benign	0.00
R4449:Kcnh6	UTSW	11	106018936	missense	probably damaging	0.99
R4548:Kcnh6	UTSW	11	106009049	missense	probably damaging	1.00
R5095:Kcnh6	UTSW	11	106017254	missense	possibly damaging	0.92
R5166:Kcnh6	UTSW	11	106020319	missense	possibly damaging	0.67
R5358:Kcnh6	UTSW	11	106027591	missense	possibly damaging	0.93
R5445:Kcnh6	UTSW	11	106023859	missense	probably damaging	1.00
R5652:Kcnh6	UTSW	11	106008985	missense	probably damaging	1.00
R5708:Kcnh6	UTSW	11	106020256	missense	probably benign	0.04
R5742:Kcnh6	UTSW	11	106009142	missense	probably benign	0.32
R6035:Kcnh6	UTSW	11	106019152	critical splice donor site	probably null
R6035:Kcnh6	UTSW	11	106019152	critical splice donor site	probably null
R6827:Kcnh6	UTSW	11	106009099	missense	probably benign	0.05
R7172:Kcnh6	UTSW	11	106020274	missense	possibly damaging	0.86
R7329:Kcnh6	UTSW	11	106017377	missense	probably benign	0.29
R7359:Kcnh6	UTSW	11	106018963	missense	possibly damaging	0.46
R7542:Kcnh6	UTSW	11	106014561	missense	possibly damaging	0.68
R7571:Kcnh6	UTSW	11	106017416	missense	probably benign	0.01
R7580:Kcnh6	UTSW	11	106017548	missense	probably damaging	1.00
R7703:Kcnh6	UTSW	11	106023877	missense	probably benign
R7726:Kcnh6	UTSW	11	106017575	missense	probably benign	0.04
R7837:Kcnh6	UTSW	11	106033810	missense	probably benign	0.04
R7854:Kcnh6	UTSW	11	106017346	missense	probably damaging	1.00
R7971:Kcnh6	UTSW	11	106017527	missense	probably damaging	1.00
R8218:Kcnh6	UTSW	11	106017374	missense	possibly damaging	0.88
R8274:Kcnh6	UTSW	11	106020161	missense	probably damaging	1.00
R8351:Kcnh6	UTSW	11	106020236	missense	probably damaging	0.99
R8991:Kcnh6	UTSW	11	106019145	missense	possibly damaging	0.65
R9042:Kcnh6	UTSW	11	106017638	missense	possibly damaging	0.46
R9272:Kcnh6	UTSW	11	106034034	missense	possibly damaging	0.93
R9273:Kcnh6	UTSW	11	106034034	missense	possibly damaging	0.93
R9274:Kcnh6	UTSW	11	106034034	missense	possibly damaging	0.93
R9428:Kcnh6	UTSW	11	106008995	missense	probably damaging	1.00
X0065:Kcnh6	UTSW	11	106025795	missense	probably benign
Z1088:Kcnh6	UTSW	11	106009048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGAAAGGCTTCCCTGAG -3'
(R):5'- TAAAACTCTCTGAGGCCAGC -3'

Sequencing Primer
(F):5'- AAAGGCTTCCCTGAGTGCCTG -3'
(R):5'- CTGACAACCTAGTGTGATTGCCAG -3'

Posted On

2017-10-10