Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Kcnh4'

37997

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

038482-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100740376-100759942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100746932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 633 (G633E)

Ref Sequence

ENSEMBL: ENSMUSP00000102986 (fasta)

Gene Model

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

AlphaFold

A2A5F7

Predicted Effect

probably benign
Transcript: ENSMUST00000107361
AA Change: G633E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: G633E

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: G633E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: G633E

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

0.1391

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,286,491		probably null	Het
Adamdec1	A	T	14: 68,568,723	C434*	probably null	Het
Adprhl1	A	G	8: 13,242,391		probably benign	Het
Ago1	T	A	4: 126,463,706	I59F	possibly damaging	Het
Arel1	T	C	12: 84,920,693	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,363,131	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,884,622	G204D	probably damaging	Het
Bace2	T	A	16: 97,436,773		probably null	Het
Camk4	G	A	18: 33,179,625		probably null	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cep152	T	C	2: 125,564,214	E1466G	probably benign	Het
Ces3b	T	C	8: 105,092,635	F441S	probably damaging	Het
Cfap52	T	C	11: 67,926,382	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,813,898	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,102,168	D467V	probably damaging	Het
Col7a1	T	A	9: 108,972,184		probably null	Het
Cstf1	A	G	2: 172,377,710	N247S	possibly damaging	Het
Dffb	G	T	4: 153,974,615	N68K	probably benign	Het
Duox2	C	T	2: 122,291,860	G595S	probably benign	Het
Eftud2	T	A	11: 102,864,725	I228F	probably damaging	Het
Elmo3	T	C	8: 105,309,171	V578A	probably benign	Het
Elp2	A	G	18: 24,631,471	D625G	possibly damaging	Het
Ep300	C	T	15: 81,640,128	P1386S	unknown	Het
Fam120b	A	G	17: 15,417,637	D610G	probably damaging	Het
Fastk	A	T	5: 24,442,178		probably benign	Het
Fbxl6	A	G	15: 76,537,191	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,793	K423E	probably damaging	Het
Filip1	T	A	9: 79,819,462	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,856,378	Y283*	probably null	Het
Gigyf2	T	A	1: 87,379,015	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,716,014		probably null	Het
Golga5	T	C	12: 102,476,188	V262A	probably benign	Het
Hectd4	T	C	5: 121,329,605	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632	S335*	probably null	Het
Itga1	A	T	13: 115,006,897		probably benign	Het
Itgb1	T	C	8: 128,717,685		probably benign	Het
Itpr1	G	A	6: 108,473,589	V1960I	probably benign	Het
Kprp	C	T	3: 92,825,411	V111I	probably benign	Het
Lamc3	T	C	2: 31,940,721	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,227,001	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,534,698	T228A	probably benign	Het
Lipa	A	T	19: 34,501,541	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,215,773	E373K	probably damaging	Het
Map6	G	A	7: 99,336,836	G649D	probably benign	Het
Mccc1	A	G	3: 35,990,047		probably null	Het
Mical3	A	T	6: 120,957,722	S1799T	probably benign	Het
Mmp23	T	A	4: 155,652,132	T151S	probably damaging	Het
Myo1d	T	A	11: 80,674,708	N401I	probably damaging	Het
Myo9b	T	A	8: 71,321,813	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353	W446L	probably benign	Het
Nedd1	A	T	10: 92,716,265		probably benign	Het
Ngef	C	A	1: 87,487,962		probably benign	Het
Nup153	A	T	13: 46,693,936	N672K	probably benign	Het
Olfr1308	T	C	2: 111,961,016	N19S	probably benign	Het
Olfr149	T	A	9: 39,702,173	I199F	probably damaging	Het
Olfr1509	T	C	14: 52,450,512	V33A	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Palm2	T	G	4: 57,710,177	V374G	possibly damaging	Het
Pdlim3	C	A	8: 45,908,460		probably benign	Het
Pmfbp1	G	A	8: 109,541,673	E951K	probably damaging	Het
Pop1	T	A	15: 34,515,891	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ptpdc1	A	T	13: 48,585,980	N658K	probably benign	Het
Ptprk	A	C	10: 28,206,225	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,732,877	R712W	probably damaging	Het
Samd7	A	C	3: 30,751,073	T2P	probably benign	Het
Sft2d1	A	G	17: 8,319,422	T52A	probably benign	Het
Slc25a26	A	G	6: 94,510,833	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,189,152	E621G	possibly damaging	Het
Slf1	A	T	13: 77,126,632	L28*	probably null	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,397,553		probably benign	Het
Tacc2	T	C	7: 130,751,825		probably benign	Het
Tas2r140	A	G	6: 133,055,327	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,018,164	T371K	possibly damaging	Het
Tifa	C	T	3: 127,796,888	L103F	probably damaging	Het
Tmco3	A	G	8: 13,292,037	N104D	probably damaging	Het
Tmem259	T	A	10: 79,978,963	D240V	probably damaging	Het
Trim60	C	T	8: 65,001,048	R183H	probably benign	Het
Trps1	T	C	15: 50,664,743	N725D	probably damaging	Het
Ttn	C	T	2: 76,814,806	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Unc79	A	G	12: 103,112,891	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,126	V405I	probably benign	Het
Wdr18	T	A	10: 79,966,408	D290E	probably damaging	Het
Wdr92	T	C	11: 17,229,851	L284P	probably damaging	Het
Wwc2	G	A	8: 47,900,721	A126V	probably benign	Het
Zfp882	A	T	8: 71,913,523	I105F	possibly damaging	Het
Zfp942	A	T	17: 21,928,572	C359S	probably benign	Het

Other mutations in Kcnh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Kcnh4	APN	11	100756995	splice site	probably benign
IGL00430:Kcnh4	APN	11	100757654	missense	possibly damaging	0.85
IGL02031:Kcnh4	APN	11	100745823	missense	probably damaging	1.00
IGL02346:Kcnh4	APN	11	100756942	missense	possibly damaging	0.46
IGL02674:Kcnh4	APN	11	100746894	missense	possibly damaging	0.58
IGL02903:Kcnh4	APN	11	100757654	missense	possibly damaging	0.50
IGL03152:Kcnh4	APN	11	100745772	missense	probably benign	0.00
R0032:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0033:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0066:Kcnh4	UTSW	11	100757800	missense	probably benign	0.11
R0066:Kcnh4	UTSW	11	100757800	missense	probably benign	0.11
R0242:Kcnh4	UTSW	11	100755699	missense	probably damaging	1.00
R0242:Kcnh4	UTSW	11	100755699	missense	probably damaging	1.00
R0310:Kcnh4	UTSW	11	100746169	missense	probably benign	0.04
R0330:Kcnh4	UTSW	11	100757743	missense	probably damaging	1.00
R0345:Kcnh4	UTSW	11	100757681	missense	probably benign	0.08
R0436:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0466:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0468:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0487:Kcnh4	UTSW	11	100750258	missense	probably damaging	0.99
R0562:Kcnh4	UTSW	11	100750244	missense	possibly damaging	0.80
R0613:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R1077:Kcnh4	UTSW	11	100752338	missense	possibly damaging	0.72
R1705:Kcnh4	UTSW	11	100741772	missense	probably benign
R1840:Kcnh4	UTSW	11	100745341	missense	possibly damaging	0.46
R2114:Kcnh4	UTSW	11	100759595	missense	probably damaging	1.00
R4448:Kcnh4	UTSW	11	100755907	missense	probably benign	0.00
R4823:Kcnh4	UTSW	11	100755174	missense	probably damaging	1.00
R4865:Kcnh4	UTSW	11	100749743	missense	probably damaging	1.00
R4963:Kcnh4	UTSW	11	100752253	missense	probably damaging	1.00
R4977:Kcnh4	UTSW	11	100746833	missense	probably damaging	1.00
R5228:Kcnh4	UTSW	11	100746896	missense	probably damaging	1.00
R5385:Kcnh4	UTSW	11	100752250	missense	probably damaging	1.00
R5414:Kcnh4	UTSW	11	100746896	missense	probably damaging	1.00
R5682:Kcnh4	UTSW	11	100749802	missense	possibly damaging	0.82
R5945:Kcnh4	UTSW	11	100745322	missense	probably damaging	1.00
R6434:Kcnh4	UTSW	11	100750279	missense	probably damaging	0.97
R6505:Kcnh4	UTSW	11	100757085	missense	probably benign	0.39
R7263:Kcnh4	UTSW	11	100741817	missense	probably benign	0.06
R7270:Kcnh4	UTSW	11	100747646	missense	probably benign
R7353:Kcnh4	UTSW	11	100757199	missense	probably benign	0.18
R7355:Kcnh4	UTSW	11	100752443	missense	possibly damaging	0.92
R7544:Kcnh4	UTSW	11	100757080	missense	probably benign	0.25
R7563:Kcnh4	UTSW	11	100741854	missense	probably benign	0.00
R7664:Kcnh4	UTSW	11	100750322	missense	probably damaging	1.00
R7972:Kcnh4	UTSW	11	100752452	missense	probably damaging	0.98
R8146:Kcnh4	UTSW	11	100755279	missense	probably damaging	1.00
R8166:Kcnh4	UTSW	11	100741886	missense	probably benign
R8234:Kcnh4	UTSW	11	100752267	missense	possibly damaging	0.83
R8295:Kcnh4	UTSW	11	100749697	missense	probably benign	0.17
R8318:Kcnh4	UTSW	11	100752328	missense	probably damaging	1.00
R8347:Kcnh4	UTSW	11	100757749	missense	probably damaging	1.00
R8413:Kcnh4	UTSW	11	100749793	missense	possibly damaging	0.60
R8464:Kcnh4	UTSW	11	100757184	missense	probably damaging	1.00
R9369:Kcnh4	UTSW	11	100757602	missense	probably damaging	1.00
X0025:Kcnh4	UTSW	11	100750243	missense	possibly damaging	0.91
X0061:Kcnh4	UTSW	11	100756907	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- ACCTTGGCGCAGGTTGAAGGTTAG -3'
(R):5'- CAGTGGCTGTCATTCACTCCAACG -3'

Sequencing Primer
(F):5'- CAGGTTGAAGGTTAGGTCCC -3'
(R):5'- GCACTATAGACATCTTCCACTGG -3'

Posted On

2013-05-23