Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Kcnh6'

214703

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

039932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105898950-105925375 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 105908270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 295 (Y295*)

Ref Sequence

ENSEMBL: ENSMUSP00000137675 (fasta)

Gene Model

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

AlphaFold

Q32ME0

Predicted Effect

probably null
Transcript: ENSMUST00000001965
AA Change: Y295*

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: Y295*

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 null
Transcript: ENSMUST00000106903
AA Change: Y295*

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: Y295*

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

probably null
Transcript: ENSMUST00000145539
AA Change: Y295*

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: Y295*

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

0.9754

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	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
IGL01555:Kcnh6	APN	11	105,908,445 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAGAGTACAAGCTGCAG -3'
(R):5'- TCACCTCATCTGAGCCAGTG -3'

Sequencing Primer
(F):5'- GAGTACAAGCTGCAGGCACC -3'
(R):5'- TCATCTGAGCCAGTGCGGAAG -3'

Posted On

2014-07-14