Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Kcnh4'

443142

Institutional Source

Beutler Lab

Gene Symbol

Kcnh4

Ensembl Gene

ENSMUSG00000035355

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 4

Synonyms

BEC2

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5682 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

100631202-100650768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100640628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 466 (M466K)

Ref Sequence

ENSEMBL: ENSMUSP00000102986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107361] [ENSMUST00000107363]

AlphaFold

A2A5F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107361
AA Change: M466K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: M466K

Domain	Start	End	E-Value	Type
PAS	16	88	1.41e-1	SMART
PAC	94	136	4.88e-5	SMART
low complexity region	155	168	N/A	INTRINSIC
Pfam:Ion_trans	226	486	1.5e-32	PFAM
Pfam:Ion_trans_2	412	480	2.3e-12	PFAM
cNMP	556	681	1.27e-12	SMART
low complexity region	726	735	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
coiled coil region	874	911	N/A	INTRINSIC
low complexity region	981	1006	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107363
AA Change: M466K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: M466K

Domain	Start	End	E-Value	Type
PAS	16	88	1.41e-1	SMART
PAC	94	136	4.88e-5	SMART
low complexity region	155	168	N/A	INTRINSIC
transmembrane domain	228	250	N/A	INTRINSIC
Pfam:Ion_trans	265	474	1.1e-17	PFAM
Pfam:Ion_trans_2	412	480	2.2e-12	PFAM
cNMP	556	681	1.27e-12	SMART
low complexity region	726	735	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
coiled coil region	874	911	N/A	INTRINSIC
low complexity region	981	1006	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

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. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably damaging	Het

Other mutations in Kcnh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Kcnh4	APN	11	100,647,821 (GRCm39)	splice site	probably benign
IGL00430:Kcnh4	APN	11	100,648,480 (GRCm39)	missense	possibly damaging	0.85
IGL02031:Kcnh4	APN	11	100,636,649 (GRCm39)	missense	probably damaging	1.00
IGL02346:Kcnh4	APN	11	100,647,768 (GRCm39)	missense	possibly damaging	0.46
IGL02674:Kcnh4	APN	11	100,637,720 (GRCm39)	missense	possibly damaging	0.58
IGL02903:Kcnh4	APN	11	100,648,480 (GRCm39)	missense	possibly damaging	0.50
IGL03152:Kcnh4	APN	11	100,636,598 (GRCm39)	missense	probably benign	0.00
R0032:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R0033:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R0066:Kcnh4	UTSW	11	100,648,626 (GRCm39)	missense	probably benign	0.11
R0066:Kcnh4	UTSW	11	100,648,626 (GRCm39)	missense	probably benign	0.11
R0242:Kcnh4	UTSW	11	100,646,525 (GRCm39)	missense	probably damaging	1.00
R0242:Kcnh4	UTSW	11	100,646,525 (GRCm39)	missense	probably damaging	1.00
R0244:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R0310:Kcnh4	UTSW	11	100,636,995 (GRCm39)	missense	probably benign	0.04
R0330:Kcnh4	UTSW	11	100,648,569 (GRCm39)	missense	probably damaging	1.00
R0345:Kcnh4	UTSW	11	100,648,507 (GRCm39)	missense	probably benign	0.08
R0436:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R0466:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R0468:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R0487:Kcnh4	UTSW	11	100,641,084 (GRCm39)	missense	probably damaging	0.99
R0562:Kcnh4	UTSW	11	100,641,070 (GRCm39)	missense	possibly damaging	0.80
R0613:Kcnh4	UTSW	11	100,637,758 (GRCm39)	missense	probably benign	0.19
R1077:Kcnh4	UTSW	11	100,643,164 (GRCm39)	missense	possibly damaging	0.72
R1705:Kcnh4	UTSW	11	100,632,598 (GRCm39)	missense	probably benign
R1840:Kcnh4	UTSW	11	100,636,167 (GRCm39)	missense	possibly damaging	0.46
R2114:Kcnh4	UTSW	11	100,650,421 (GRCm39)	missense	probably damaging	1.00
R4448:Kcnh4	UTSW	11	100,646,733 (GRCm39)	missense	probably benign	0.00
R4823:Kcnh4	UTSW	11	100,646,000 (GRCm39)	missense	probably damaging	1.00
R4865:Kcnh4	UTSW	11	100,640,569 (GRCm39)	missense	probably damaging	1.00
R4963:Kcnh4	UTSW	11	100,643,079 (GRCm39)	missense	probably damaging	1.00
R4977:Kcnh4	UTSW	11	100,637,659 (GRCm39)	missense	probably damaging	1.00
R5228:Kcnh4	UTSW	11	100,637,722 (GRCm39)	missense	probably damaging	1.00
R5385:Kcnh4	UTSW	11	100,643,076 (GRCm39)	missense	probably damaging	1.00
R5414:Kcnh4	UTSW	11	100,637,722 (GRCm39)	missense	probably damaging	1.00
R5945:Kcnh4	UTSW	11	100,636,148 (GRCm39)	missense	probably damaging	1.00
R6434:Kcnh4	UTSW	11	100,641,105 (GRCm39)	missense	probably damaging	0.97
R6505:Kcnh4	UTSW	11	100,647,911 (GRCm39)	missense	probably benign	0.39
R7263:Kcnh4	UTSW	11	100,632,643 (GRCm39)	missense	probably benign	0.06
R7270:Kcnh4	UTSW	11	100,638,472 (GRCm39)	missense	probably benign
R7353:Kcnh4	UTSW	11	100,648,025 (GRCm39)	missense	probably benign	0.18
R7355:Kcnh4	UTSW	11	100,643,269 (GRCm39)	missense	possibly damaging	0.92
R7544:Kcnh4	UTSW	11	100,647,906 (GRCm39)	missense	probably benign	0.25
R7563:Kcnh4	UTSW	11	100,632,680 (GRCm39)	missense	probably benign	0.00
R7664:Kcnh4	UTSW	11	100,641,148 (GRCm39)	missense	probably damaging	1.00
R7972:Kcnh4	UTSW	11	100,643,278 (GRCm39)	missense	probably damaging	0.98
R8146:Kcnh4	UTSW	11	100,646,105 (GRCm39)	missense	probably damaging	1.00
R8166:Kcnh4	UTSW	11	100,632,712 (GRCm39)	missense	probably benign
R8234:Kcnh4	UTSW	11	100,643,093 (GRCm39)	missense	possibly damaging	0.83
R8295:Kcnh4	UTSW	11	100,640,523 (GRCm39)	missense	probably benign	0.17
R8318:Kcnh4	UTSW	11	100,643,154 (GRCm39)	missense	probably damaging	1.00
R8347:Kcnh4	UTSW	11	100,648,575 (GRCm39)	missense	probably damaging	1.00
R8413:Kcnh4	UTSW	11	100,640,619 (GRCm39)	missense	possibly damaging	0.60
R8464:Kcnh4	UTSW	11	100,648,010 (GRCm39)	missense	probably damaging	1.00
R9369:Kcnh4	UTSW	11	100,648,428 (GRCm39)	missense	probably damaging	1.00
X0025:Kcnh4	UTSW	11	100,641,069 (GRCm39)	missense	possibly damaging	0.91
X0061:Kcnh4	UTSW	11	100,647,733 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- CTACCTCGTTGGCATCGATG -3'
(R):5'- CATCTAAGGATTGCCACCTACTTCC -3'

Sequencing Primer
(F):5'- ATCGATGCCGCTGTTGAC -3'
(R):5'- CCCTGCTTCGATTGCTAGTTG -3'

Posted On

2016-11-09