Mutagenetix > Incidental Mutation

Incidental Mutation 'R7571:Kcnh6'

585857

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

045711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105898950-105925375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105908242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 286 (D286G)

Ref Sequence

ENSEMBL: ENSMUSP00000001965 (fasta)

Gene Model

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

AlphaFold

Q32ME0

Predicted Effect

probably benign
Transcript: ENSMUST00000001965
AA Change: D286G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: D286G

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
AA Change: D286G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: D286G

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

possibly damaging
Transcript: ENSMUST00000145539
AA Change: D286G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: D286G

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

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,119,211 (GRCm39)	N985I	probably benign	Het
Abi3bp	T	A	16: 56,451,345 (GRCm39)		probably null	Het
Acad12	A	T	5: 121,745,257 (GRCm39)	Y309*	probably null	Het
Acadsb	G	T	7: 131,045,283 (GRCm39)	R405L	probably damaging	Het
Acan	G	A	7: 78,736,015 (GRCm39)	V154M	probably damaging	Het
Adam22	G	A	5: 8,132,160 (GRCm39)	R894*	probably null	Het
Ahnak	A	T	19: 8,978,150 (GRCm39)	K90*	probably null	Het
Ak4	T	C	4: 101,317,739 (GRCm39)	I103T	probably benign	Het
Ap4e1	C	T	2: 126,861,256 (GRCm39)	L132F	probably damaging	Het
Apol7b	C	T	15: 77,307,677 (GRCm39)	V273I	probably benign	Het
Arhgef37	T	A	18: 61,637,403 (GRCm39)	I420F	probably damaging	Het
Atg13	C	T	2: 91,510,687 (GRCm39)		probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cabin1	A	T	10: 75,482,500 (GRCm39)	S2148T	probably damaging	Het
Cacna1i	T	C	15: 80,259,537 (GRCm39)	V1269A	probably damaging	Het
Cdipt	T	C	7: 126,578,794 (GRCm39)	I195T	probably benign	Het
Ces2b	A	T	8: 105,561,641 (GRCm39)	H245L	probably damaging	Het
Cimip2c	A	T	5: 30,639,502 (GRCm39)	E143V	possibly damaging	Het
Clstn1	T	G	4: 149,730,744 (GRCm39)	M825R	probably benign	Het
Cntn3	G	A	6: 102,255,364 (GRCm39)	T178I	probably damaging	Het
Col7a1	A	G	9: 108,811,775 (GRCm39)	M2789V	probably null	Het
Col9a2	A	T	4: 120,896,981 (GRCm39)	I24F	unknown	Het
Cpne2	T	C	8: 95,278,408 (GRCm39)	M134T	probably benign	Het
Cpt1b	A	G	15: 89,305,546 (GRCm39)		probably null	Het
Crocc	T	C	4: 140,773,360 (GRCm39)		probably null	Het
Cts8	T	C	13: 61,395,981 (GRCm39)	Y330C	probably damaging	Het
Cwc22	T	C	2: 77,747,411 (GRCm39)	D434G	probably benign	Het
Cyp3a13	T	C	5: 137,897,125 (GRCm39)	I396M	possibly damaging	Het
Ddr2	A	T	1: 169,829,420 (GRCm39)	I278N	probably benign	Het
Dnaaf5	A	G	5: 139,155,963 (GRCm39)	E548G	possibly damaging	Het
Dync2h1	A	G	9: 7,002,623 (GRCm39)	L3808P	probably damaging	Het
Faf2	T	A	13: 54,798,027 (GRCm39)	W209R	probably damaging	Het
Fbln2	A	T	6: 91,245,557 (GRCm39)	E992D	probably damaging	Het
Fdxacb1	T	A	9: 50,683,093 (GRCm39)	V352D	probably damaging	Het
Flg2	G	T	3: 93,127,303 (GRCm39)	G2072*	probably null	Het
Flii	A	T	11: 60,611,962 (GRCm39)	L347Q	probably damaging	Het
Fndc3a	A	T	14: 72,827,336 (GRCm39)	H116Q	probably damaging	Het
Fnta	A	T	8: 26,505,493 (GRCm39)	M39K	probably benign	Het
Gabra4	A	G	5: 71,729,335 (GRCm39)	S482P	probably benign	Het
Gapdhs	G	A	7: 30,437,383 (GRCm39)	P61S	unknown	Het
Gm10153	A	T	7: 141,743,401 (GRCm39)	C242*	probably null	Het
Gp1ba	A	G	11: 70,530,920 (GRCm39)	I229V	unknown	Het
Grap2	T	A	15: 80,527,905 (GRCm39)	L117Q	probably damaging	Het
Grik5	A	G	7: 24,713,310 (GRCm39)	I766T	possibly damaging	Het
Hrh3	A	T	2: 179,743,079 (GRCm39)	I183N	probably damaging	Het
Htr5a	C	A	5: 28,047,893 (GRCm39)	Y149*	probably null	Het
Ibtk	T	C	9: 85,604,353 (GRCm39)	I527V	probably benign	Het
Il33	T	A	19: 29,934,341 (GRCm39)	S184R	probably damaging	Het
Kansl3	T	A	1: 36,404,668 (GRCm39)	Q94L	possibly damaging	Het
Katnip	C	T	7: 125,307,193 (GRCm39)		probably benign	Het
Kmt2e	T	A	5: 23,683,585 (GRCm39)	M281K	probably damaging	Het
Lrp2	T	A	2: 69,346,747 (GRCm39)	H833L	probably damaging	Het
Meis1	A	T	11: 18,891,702 (GRCm39)	V282E	probably damaging	Het
Mfsd8	T	G	3: 40,785,097 (GRCm39)	D240A	probably damaging	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Myo18b	G	A	5: 112,978,194 (GRCm39)	L1243F	probably damaging	Het
Nefl	A	G	14: 68,322,123 (GRCm39)	I238V	probably benign	Het
Nexn	T	A	3: 151,959,284 (GRCm39)	I62F	possibly damaging	Het
Niban1	T	C	1: 151,594,048 (GRCm39)	V911A	probably benign	Het
Notch4	T	C	17: 34,802,548 (GRCm39)	L1323P	probably damaging	Het
Or51h1	T	C	7: 102,308,258 (GRCm39)	S77P	probably damaging	Het
Or5p68	A	T	7: 107,945,689 (GRCm39)	F166L	probably benign	Het
Or8b1	T	C	9: 38,399,952 (GRCm39)	V209A	probably benign	Het
Patj	C	A	4: 98,457,217 (GRCm39)	H1244N	probably damaging	Het
Peg10	T	A	6: 4,756,082 (GRCm39)	D219E	unknown	Het
Pi4kb	G	T	3: 94,906,425 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,225,157 (GRCm39)	F614S		Het
Pisd	T	A	5: 32,894,681 (GRCm39)	N372Y	probably damaging	Het
Piwil4	T	C	9: 14,645,893 (GRCm39)	D178G	probably benign	Het
Plekho1	G	T	3: 95,896,566 (GRCm39)	P301Q	probably damaging	Het
Pop1	T	A	15: 34,529,093 (GRCm39)	W738R	probably null	Het
Ppp4r1	C	T	17: 66,117,611 (GRCm39)	P125L	possibly damaging	Het
Pramel48	A	T	5: 95,630,819 (GRCm39)	N232I	probably damaging	Het
Prdm9	T	A	17: 15,783,526 (GRCm39)	N13I	probably damaging	Het
Psd4	T	G	2: 24,297,023 (GRCm39)	V932G	probably damaging	Het
Ptger3	T	C	3: 157,347,412 (GRCm39)	S355P	probably benign	Het
Ptprb	T	C	10: 116,175,335 (GRCm39)	V823A	probably damaging	Het
Ptprj	C	T	2: 90,285,530 (GRCm39)	V841I	probably benign	Het
Ranbp3	T	C	17: 57,014,923 (GRCm39)	S281P	probably benign	Het
Rasal3	T	A	17: 32,614,835 (GRCm39)	M541L	possibly damaging	Het
Rassf1	A	G	9: 107,428,982 (GRCm39)	T63A	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs4	G	A	1: 169,571,927 (GRCm39)	T124I	probably damaging	Het
Rspo2	T	A	15: 43,033,372 (GRCm39)		probably benign	Het
Scgn	T	C	13: 24,137,897 (GRCm39)	D258G	probably damaging	Het
Shkbp1	A	G	7: 27,046,556 (GRCm39)	S403P	possibly damaging	Het
Slc25a13	A	G	6: 6,052,785 (GRCm39)	L525P	probably damaging	Het
Snd1	G	T	6: 28,526,202 (GRCm39)	K193N	possibly damaging	Het
Sntg2	C	T	12: 30,225,201 (GRCm39)	A516T	probably damaging	Het
Stard13	A	G	5: 150,982,967 (GRCm39)	I699T	probably damaging	Het
Svil	T	A	18: 5,114,636 (GRCm39)	V1984D	probably damaging	Het
Swt1	A	G	1: 151,270,470 (GRCm39)	S582P	probably benign	Het
Sypl2	A	G	3: 108,121,854 (GRCm39)	*265Q	probably null	Het
Taar8a	T	A	10: 23,953,306 (GRCm39)	Y303*	probably null	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tlr2	T	A	3: 83,743,849 (GRCm39)	I745F	probably damaging	Het
Tnrc6b	A	G	15: 80,813,594 (GRCm39)	T1784A	probably benign	Het
Tpo	C	A	12: 30,169,431 (GRCm39)	M101I	probably benign	Het
Trpm2	G	T	10: 77,773,784 (GRCm39)	R544S	probably benign	Het
Ttc14	A	G	3: 33,863,400 (GRCm39)	R603G	unknown	Het
Tubgcp6	A	C	15: 88,984,925 (GRCm39)	V1694G	probably damaging	Het
Uba6	C	A	5: 86,294,970 (GRCm39)	K356N	probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Vcam1	G	A	3: 115,908,032 (GRCm39)	Q677*	probably null	Het
Vmn1r238	T	A	18: 3,122,721 (GRCm39)	E231V	probably damaging	Het
Vmn1r70	T	C	7: 10,367,871 (GRCm39)	F120L	probably benign	Het
Vmn2r116	T	A	17: 23,603,830 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,411,825 (GRCm39)	C248S	probably damaging	Het
Vmn2r87	A	T	10: 130,314,940 (GRCm39)	D215E	probably damaging	Het
Xkr4	T	G	1: 3,740,911 (GRCm39)	I221L	probably benign	Het
Zfp366	T	C	13: 99,382,895 (GRCm39)	I686T	probably benign	Het
Zfp398	T	A	6: 47,843,666 (GRCm39)	C573S	probably 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
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
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'- TAGACCGGTCTTCCTAGCAG -3'
(R):5'- TGAAATAGTGGACGGCGATTC -3'

Sequencing Primer
(F):5'- CATGGCTTCCATCCCAGG -3'
(R):5'- CGATTCGTCGGGGGTGG -3'

Posted On

2019-10-17