Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01808:Kcnh6'

155748

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh6

Ensembl Gene

ENSMUSG00000001901

Gene Name

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

Synonyms

m-erg2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01808

Quality Score

Status

Chromosome

Chromosomal Location

106008124-106034549 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 106023927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137675 (fasta)

Gene Model

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

AlphaFold

Q32ME0

Predicted Effect

probably benign
Transcript: ENSMUST00000001965

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901

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

probably benign
Transcript: ENSMUST00000106903

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901

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

probably benign
Transcript: ENSMUST00000145539

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901

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

Coding Region Coverage

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. 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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ager	A	T	17: 34,599,457	Q266L	probably damaging	Het
Amz1	A	G	5: 140,741,279		probably benign	Het
Ebf2	C	T	14: 67,414,483	A488V	probably benign	Het
Gm5885	A	T	6: 133,531,218		noncoding transcript	Het
Gnas	T	C	2: 174,298,697	S220P	probably damaging	Het
Gpr171	G	A	3: 59,098,151	P68S	probably damaging	Het
H2afx	T	C	9: 44,334,949	I63T	possibly damaging	Het
H2-M9	A	T	17: 36,641,819		probably null	Het
Igsf9	T	C	1: 172,484,803	V27A	probably benign	Het
Mapkbp1	A	G	2: 120,023,169		probably null	Het
Mllt6	C	A	11: 97,672,484	H298N	possibly damaging	Het
Mtmr3	A	G	11: 4,497,404	I352T	probably damaging	Het
Mtrr	T	C	13: 68,566,093	D509G	probably benign	Het
Ncan	C	T	8: 70,107,440		probably null	Het
Olfr612	T	A	7: 103,538,574	Y220F	probably damaging	Het
Pcdhb4	T	C	18: 37,309,014	V459A	probably damaging	Het
Phrf1	C	A	7: 141,260,966	P1274Q	probably damaging	Het
Slc4a2	T	C	5: 24,440,207	L1125P	probably damaging	Het
Synpo	T	C	18: 60,602,208	I650V	probably benign	Het
Tsc1	G	A	2: 28,662,507	R86H	probably damaging	Het
Ugt2a3	A	G	5: 87,325,555	V501A	probably benign	Het
Vmn1r203	T	C	13: 22,524,547	I166T	probably benign	Het
Vps13a	A	G	19: 16,710,286	C933R	probably damaging	Het
Zfp142	A	T	1: 74,576,025	F342Y	probably damaging	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
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
R6150:Kcnh6	UTSW	11	106020731	missense	possibly damaging	0.83
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

Posted On

2014-02-04