Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01555:Kcnh6'

90698

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 #

IGL01555

Quality Score

Status

Chromosome

Chromosomal Location

105898950-105925375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105908445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 354 (I354F)

Ref Sequence

ENSEMBL: ENSMUSP00000102516 (fasta)

Gene Model

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

AlphaFold

Q32ME0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001965
AA Change: I354F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: I354F

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 damaging
Transcript: ENSMUST00000106903
AA Change: I354F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: I354F

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: I354F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: I354F

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,443 (GRCm39)	H372R	probably benign	Het
A3galt2	G	A	4: 128,655,851 (GRCm39)	C73Y	probably damaging	Het
Arid4a	C	T	12: 71,108,301 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,626,618 (GRCm39)	V1706A	probably damaging	Het
Boll	A	G	1: 55,344,827 (GRCm39)		probably benign	Het
Camsap1	A	T	2: 25,829,405 (GRCm39)	M773K	possibly damaging	Het
Dhx9	A	T	1: 153,335,312 (GRCm39)	D929E	probably damaging	Het
Ect2l	A	G	10: 18,006,478 (GRCm39)	L775P	probably damaging	Het
Fat2	A	T	11: 55,169,756 (GRCm39)	V3001D	probably damaging	Het
Nemp2	T	A	1: 52,680,202 (GRCm39)	V142E	probably damaging	Het
Nipal2	A	T	15: 34,600,264 (GRCm39)		probably benign	Het
Otop1	A	G	5: 38,460,188 (GRCm39)	Y585C	probably damaging	Het
Peli3	T	C	19: 4,985,086 (GRCm39)	T108A	probably damaging	Het
Pramel6	T	C	2: 87,341,129 (GRCm39)		probably benign	Het
Rbfa	G	A	18: 80,241,015 (GRCm39)	T83I	possibly damaging	Het
Speer1k	A	T	5: 10,999,051 (GRCm39)		probably benign	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Tll2	T	A	19: 41,074,805 (GRCm39)	I920L	probably benign	Het

Other mutations in Kcnh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Kcnh6	APN	11	105,909,845 (GRCm39)	missense	probably damaging	1.00
IGL01349:Kcnh6	APN	11	105,914,743 (GRCm39)	missense	possibly damaging	0.82
IGL01529:Kcnh6	APN	11	105,911,522 (GRCm39)	missense	probably benign	0.07
IGL01596:Kcnh6	APN	11	105,917,572 (GRCm39)	missense	probably benign	0.02
IGL01808:Kcnh6	APN	11	105,914,753 (GRCm39)	splice site	probably benign
IGL02001:Kcnh6	APN	11	105,918,375 (GRCm39)	splice site	probably benign
IGL02131:Kcnh6	APN	11	105,911,001 (GRCm39)	missense	probably damaging	1.00
IGL02254:Kcnh6	APN	11	105,911,533 (GRCm39)	missense	probably damaging	1.00
IGL02413:Kcnh6	APN	11	105,918,460 (GRCm39)	missense	possibly damaging	0.77
R0089:Kcnh6	UTSW	11	105,899,848 (GRCm39)	missense	probably benign	0.31
R1914:Kcnh6	UTSW	11	105,908,270 (GRCm39)	nonsense	probably null
R1915:Kcnh6	UTSW	11	105,908,270 (GRCm39)	nonsense	probably null
R2265:Kcnh6	UTSW	11	105,924,643 (GRCm39)	missense	probably benign
R2325:Kcnh6	UTSW	11	105,924,661 (GRCm39)	missense	probably benign	0.00
R4449:Kcnh6	UTSW	11	105,909,762 (GRCm39)	missense	probably damaging	0.99
R4548:Kcnh6	UTSW	11	105,899,875 (GRCm39)	missense	probably damaging	1.00
R5095:Kcnh6	UTSW	11	105,908,080 (GRCm39)	missense	possibly damaging	0.92
R5166:Kcnh6	UTSW	11	105,911,145 (GRCm39)	missense	possibly damaging	0.67
R5358:Kcnh6	UTSW	11	105,918,417 (GRCm39)	missense	possibly damaging	0.93
R5445:Kcnh6	UTSW	11	105,914,685 (GRCm39)	missense	probably damaging	1.00
R5652:Kcnh6	UTSW	11	105,899,811 (GRCm39)	missense	probably damaging	1.00
R5708:Kcnh6	UTSW	11	105,911,082 (GRCm39)	missense	probably benign	0.04
R5742:Kcnh6	UTSW	11	105,899,968 (GRCm39)	missense	probably benign	0.32
R6035:Kcnh6	UTSW	11	105,909,978 (GRCm39)	critical splice donor site	probably null
R6035:Kcnh6	UTSW	11	105,909,978 (GRCm39)	critical splice donor site	probably null
R6150:Kcnh6	UTSW	11	105,911,557 (GRCm39)	missense	possibly damaging	0.83
R6827:Kcnh6	UTSW	11	105,899,925 (GRCm39)	missense	probably benign	0.05
R7172:Kcnh6	UTSW	11	105,911,100 (GRCm39)	missense	possibly damaging	0.86
R7329:Kcnh6	UTSW	11	105,908,203 (GRCm39)	missense	probably benign	0.29
R7359:Kcnh6	UTSW	11	105,909,789 (GRCm39)	missense	possibly damaging	0.46
R7542:Kcnh6	UTSW	11	105,905,387 (GRCm39)	missense	possibly damaging	0.68
R7571:Kcnh6	UTSW	11	105,908,242 (GRCm39)	missense	probably benign	0.01
R7580:Kcnh6	UTSW	11	105,908,374 (GRCm39)	missense	probably damaging	1.00
R7703:Kcnh6	UTSW	11	105,914,703 (GRCm39)	missense	probably benign
R7726:Kcnh6	UTSW	11	105,908,401 (GRCm39)	missense	probably benign	0.04
R7837:Kcnh6	UTSW	11	105,924,636 (GRCm39)	missense	probably benign	0.04
R7854:Kcnh6	UTSW	11	105,908,172 (GRCm39)	missense	probably damaging	1.00
R7971:Kcnh6	UTSW	11	105,908,353 (GRCm39)	missense	probably damaging	1.00
R8218:Kcnh6	UTSW	11	105,908,200 (GRCm39)	missense	possibly damaging	0.88
R8274:Kcnh6	UTSW	11	105,910,987 (GRCm39)	missense	probably damaging	1.00
R8351:Kcnh6	UTSW	11	105,911,062 (GRCm39)	missense	probably damaging	0.99
R8991:Kcnh6	UTSW	11	105,909,971 (GRCm39)	missense	possibly damaging	0.65
R9042:Kcnh6	UTSW	11	105,908,464 (GRCm39)	missense	possibly damaging	0.46
R9272:Kcnh6	UTSW	11	105,924,860 (GRCm39)	missense	possibly damaging	0.93
R9273:Kcnh6	UTSW	11	105,924,860 (GRCm39)	missense	possibly damaging	0.93
R9274:Kcnh6	UTSW	11	105,924,860 (GRCm39)	missense	possibly damaging	0.93
R9428:Kcnh6	UTSW	11	105,899,821 (GRCm39)	missense	probably damaging	1.00
X0065:Kcnh6	UTSW	11	105,916,621 (GRCm39)	missense	probably benign
Z1088:Kcnh6	UTSW	11	105,899,874 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09