Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Kcnh4'

41098

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

038357-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100631202-100650768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100648626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 26 (H26R)

Ref Sequence

ENSEMBL: ENSMUSP00000102986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055083] [ENSMUST00000107360] [ENSMUST00000107361] [ENSMUST00000107363]

AlphaFold

A2A5F7

Predicted Effect

probably benign
Transcript: ENSMUST00000055083

SMART Domains

Protein: ENSMUSP00000057578
Gene: ENSMUSG00000045471

Domain	Start	End	E-Value	Type
Pfam:Orexin	1	129	2.2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107360

SMART Domains

Protein: ENSMUSP00000102983
Gene: ENSMUSG00000045471

Domain	Start	End	E-Value	Type
Pfam:Orexin	1	106	2.3e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107361
AA Change: H26R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: H26R

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

probably benign
Transcript: ENSMUST00000107363
AA Change: H26R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: H26R

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

Meta Mutation Damage Score

0.2368

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

100% (107/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
5530400C23Rik	A	T	6: 133,269,287 (GRCm39)		probably benign	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arap3	A	T	18: 38,129,760 (GRCm39)	S134T	probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bpifb9a	A	T	2: 154,108,761 (GRCm39)	N421Y	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col24a1	G	A	3: 145,250,899 (GRCm39)	A1633T	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnah10	A	T	5: 124,840,140 (GRCm39)	D1315V	probably benign	Het
Dnah11	A	G	12: 118,090,621 (GRCm39)	F1080S	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l1	A	C	9: 24,325,705 (GRCm39)	M700R	possibly damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm43302	T	A	5: 105,438,766 (GRCm39)	I41F	probably damaging	Het
Gm5698	C	T	1: 31,016,614 (GRCm39)	V146I	probably benign	Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Il4ra	C	T	7: 125,175,403 (GRCm39)	P537L	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Khdrbs3	T	A	15: 68,866,886 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Neb	T	A	2: 52,196,542 (GRCm39)	D553V	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Npr2	G	T	4: 43,632,329 (GRCm39)	V49L	probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Oas3	T	A	5: 120,896,940 (GRCm39)	I894F	probably damaging	Het
Oprd1	A	G	4: 131,841,299 (GRCm39)	F220L	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Or2aj4	T	A	16: 19,384,799 (GRCm39)	Y278F	probably damaging	Het
Or2r2	A	T	6: 42,463,869 (GRCm39)	M86K	probably benign	Het
Or8b57	T	C	9: 40,003,983 (GRCm39)	N93S	possibly damaging	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plcxd1	T	A	5: 110,249,368 (GRCm39)	V65E	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Rabepk	T	C	2: 34,685,318 (GRCm39)	D26G	possibly damaging	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spink14	T	C	18: 44,161,830 (GRCm39)	V2A	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tmco6	A	G	18: 36,875,160 (GRCm39)	T477A	probably benign	Het
Tmem208	C	T	8: 106,054,857 (GRCm39)	A53V	probably benign	Het
Tpp2	A	G	1: 44,020,908 (GRCm39)	T837A	possibly damaging	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Usp7	A	T	16: 8,509,282 (GRCm39)	H1017Q	probably benign	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r63	T	C	7: 42,576,514 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vmn2r85	T	C	10: 130,261,770 (GRCm39)	D189G	probably damaging	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Wnk4	A	T	11: 101,156,261 (GRCm39)	D43V	probably damaging	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Xirp2	T	C	2: 67,342,484 (GRCm39)	V1575A	possibly damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	Het
Zfp458	G	A	13: 67,407,673 (GRCm39)	Q58*	probably null	Het
Zfp747	A	T	7: 126,973,772 (GRCm39)	S133T	probably benign	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
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
R5682:Kcnh4	UTSW	11	100,640,628 (GRCm39)	missense	possibly damaging	0.82
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'- GGCAAAGCCAGATCAGGCTCTTTAC -3'
(R):5'- AGCATGAACCACACGGCCTCATTG -3'

Sequencing Primer
(F):5'- CAGGGCTTTTTGCAACCG -3'
(R):5'- CATGGACTCCGGGCCAC -3'

Posted On

2013-05-23