Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Kcnh6'

636500

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

067637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105898950-105925375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105908200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 272 (V272G)

Ref Sequence

ENSEMBL: ENSMUSP00000001965 (fasta)

Gene Model

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

AlphaFold

Q32ME0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001965
AA Change: V272G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: V272G

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: V272G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: V272G

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 damaging
Transcript: ENSMUST00000145539
AA Change: V272G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: V272G

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,839,668 (GRCm39)	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,536,769 (GRCm39)	L155*	probably null	Het
Ackr4	T	C	9: 103,976,410 (GRCm39)	N179S	probably benign	Het
Acp5	T	C	9: 22,040,902 (GRCm39)	Y107C	probably damaging	Het
Aff4	A	T	11: 53,289,084 (GRCm39)	H411L	probably damaging	Het
Atp5pb	A	G	3: 105,866,502 (GRCm39)	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728 (GRCm39)		probably null	Het
C1qtnf2	A	G	11: 43,381,775 (GRCm39)	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,112,398 (GRCm39)	D170G	probably damaging	Het
Dennd3	T	A	15: 73,384,622 (GRCm39)	S10T	probably benign	Het
Ehbp1	T	C	11: 22,046,096 (GRCm39)	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 110,673,639 (GRCm39)	D743E	possibly damaging	Het
Esr1	G	A	10: 4,696,808 (GRCm39)		probably null	Het
Exo1	A	T	1: 175,728,480 (GRCm39)	I515L	probably benign	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Garin1a	T	C	6: 29,286,072 (GRCm39)	I177T	probably damaging	Het
Gcn1	G	A	5: 115,719,588 (GRCm39)	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613 (GRCm38)		probably null	Het
Grk4	T	A	5: 34,826,540 (GRCm39)	S47T	probably benign	Het
Gstp2	C	A	19: 4,091,668 (GRCm39)	M20I	probably benign	Het
Harbi1	T	C	2: 91,543,237 (GRCm39)	F233L	probably benign	Het
Iqch	C	T	9: 63,389,915 (GRCm39)	V755I	possibly damaging	Het
Iws1	T	C	18: 32,226,688 (GRCm39)	F756L	probably benign	Het
Kcnj10	C	T	1: 172,196,539 (GRCm39)	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,488,104 (GRCm39)	S4670A	probably damaging	Het
Krt80	T	G	15: 101,267,884 (GRCm39)	M18L	probably benign	Het
Lbx1	A	G	19: 45,223,359 (GRCm39)	V103A	probably benign	Het
Marchf8	A	T	6: 116,315,059 (GRCm39)		probably benign	Het
Muc16	T	A	9: 18,548,315 (GRCm39)	T5993S	possibly damaging	Het
Or10ag57	C	T	2: 87,218,922 (GRCm39)	T291I	probably damaging	Het
Or1j17	A	G	2: 36,578,685 (GRCm39)	T224A	probably benign	Het
Or1o4	A	G	17: 37,590,711 (GRCm39)	V200A	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pbxip1	A	G	3: 89,352,902 (GRCm39)	I183V	probably benign	Het
Pcdh20	T	A	14: 88,706,047 (GRCm39)	I418F	probably damaging	Het
Pclo	T	C	5: 14,725,677 (GRCm39)	F1512L	unknown	Het
Phf2	G	T	13: 48,958,104 (GRCm39)	T970K	unknown	Het
Pidd1	A	G	7: 141,019,566 (GRCm39)	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,491,996 (GRCm39)	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,142,250 (GRCm39)	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,699,236 (GRCm39)	D795G	probably benign	Het
Pramel12	A	T	4: 143,145,706 (GRCm39)	I392F	probably benign	Het
Prkar2a	C	A	9: 108,596,448 (GRCm39)	A131D	possibly damaging	Het
Pter	A	G	2: 12,985,366 (GRCm39)	D232G	probably damaging	Het
Qser1	C	T	2: 104,593,268 (GRCm39)	R1583Q	probably damaging	Het
Rasal2	A	C	1: 156,984,951 (GRCm39)	V932G	probably damaging	Het
Rasgrf2	G	A	13: 92,130,796 (GRCm39)	A154V		Het
Rbm4	A	G	19: 4,837,444 (GRCm39)	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,584,085 (GRCm39)		probably null	Het
Robo1	C	G	16: 72,786,678 (GRCm39)	R897G	possibly damaging	Het
Sash1	G	A	10: 8,627,000 (GRCm39)	T364I	probably damaging	Het
Skint6	T	A	4: 112,696,471 (GRCm39)		probably null	Het
Slc22a4	T	A	11: 53,877,407 (GRCm39)	M495L	probably benign	Het
Slc39a8	G	A	3: 135,563,325 (GRCm39)	V212I	probably benign	Het
Slc40a1	A	C	1: 45,950,129 (GRCm39)	V441G	probably benign	Het
Slc7a11	A	T	3: 50,378,501 (GRCm39)	Y246N	probably damaging	Het
Spata9	T	C	13: 76,125,892 (GRCm39)	V125A	probably benign	Het
Svopl	T	A	6: 37,991,741 (GRCm39)	M380L	probably benign	Het
Sycp2l	T	C	13: 41,271,544 (GRCm39)	Y23H	probably damaging	Het
Syt11	A	T	3: 88,669,427 (GRCm39)	V155E	probably benign	Het
Syt5	T	C	7: 4,545,822 (GRCm39)	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,846,277 (GRCm39)	T6A	probably benign	Het
Tlr2	A	G	3: 83,745,546 (GRCm39)	L179P	probably damaging	Het
Tsn	A	T	1: 118,232,984 (GRCm39)	Y107N	probably damaging	Het
Tspan32	A	T	7: 142,564,832 (GRCm39)	Y114F	probably benign	Het
Tube1	A	C	10: 39,023,375 (GRCm39)	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,466,214 (GRCm39)	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,820,910 (GRCm39)	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,683,465 (GRCm39)	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,857,342 (GRCm39)	F546L	probably damaging	Het
Yy1	A	G	12: 108,759,619 (GRCm39)	D94G	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421 (GRCm39)	T9A	unknown	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
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
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'- ATAGACCGGTCTTCCTAGCAG -3'
(R):5'- AATAGTGGACGGCGATTCG -3'

Sequencing Primer
(F):5'- CTGCCAGAGTACAAGCT -3'
(R):5'- GGCTGACCACCTCGTCATTAG -3'

Posted On

2020-07-13