Mutagenetix > Incidental Mutations

Incidental Mutation 'R6505:Kcnh4'

523779

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100740376-100759942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100757085 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 151 (N151D)

Ref Sequence

ENSEMBL: ENSMUSP00000102986 (fasta)

Gene Model

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

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: N151D

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: N151D

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: N151D

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: N151D

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,001,940	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,449,281	A8V	probably benign	Het
Ago1	G	A	4: 126,463,835	P16S	probably benign	Het
Ak5	C	T	3: 152,481,669	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,526,996	Y498C	probably damaging	Het
Alox12	T	A	11: 70,250,204	D335V	probably damaging	Het
Alx4	A	T	2: 93,668,559	Y212F	probably damaging	Het
Asb16	A	G	11: 102,276,477	E223G	probably damaging	Het
Atg9b	C	T	5: 24,390,577	V235M	probably damaging	Het
BB014433	A	G	8: 15,042,304	V183A	probably benign	Het
Brca1	T	A	11: 101,523,541	M1256L	probably benign	Het
Bst1	A	G	5: 43,820,590	I94V	probably benign	Het
C3ar1	A	G	6: 122,850,640	L206P	probably benign	Het
Cabs1	T	A	5: 87,980,663	M391K	possibly damaging	Het
Cars	C	T	7: 143,565,007	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,933,023	Y73*	probably null	Het
Cd177	A	C	7: 24,744,246	L809W	probably benign	Het
Cemip	C	A	7: 83,951,597	G939*	probably null	Het
Clca3b	T	A	3: 144,825,259	I777F	probably benign	Het
Cma2	T	C	14: 55,973,779	I176T	probably damaging	Het
Col12a1	T	A	9: 79,647,605	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,129,733	N860S	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dennd4b	A	G	3: 90,267,611	E50G	probably damaging	Het
Dis3l	A	T	9: 64,307,513	S925T	probably benign	Het
Disp1	T	C	1: 183,086,512	N1448S	probably benign	Het
Dpp10	T	C	1: 123,336,851	I747M	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ephx4	A	T	5: 107,403,656	K36*	probably null	Het
Fam135a	C	T	1: 24,014,872	V1195I	probably damaging	Het
Fap	A	T	2: 62,546,603	Y234*	probably null	Het
Fem1c	A	T	18: 46,505,875	N353K	possibly damaging	Het
Furin	C	A	7: 80,393,617	R282L	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5930	A	G	14: 44,331,371	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,137,586	T15S	probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Il18r1	A	T	1: 40,489,707	I304L	probably benign	Het
Ino80	A	T	2: 119,451,441	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,559,673	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,360,993	M435T	probably benign	Het
Lama3	T	C	18: 12,495,348	M1499T	probably benign	Het
Lamb1	A	T	12: 31,323,462	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,661,212	R239*	probably null	Het
Map2k4	A	T	11: 65,693,529	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,803,544	F784S	probably damaging	Het
Mrgpra9	T	A	7: 47,235,136	N260I	probably benign	Het
Mrnip	C	A	11: 50,199,852	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,355,857	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,448,821	I406T	possibly damaging	Het
Neto1	A	G	18: 86,498,574	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,213,199	D541G	probably damaging	Het
Nuak2	C	A	1: 132,316,394	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,691,613	T118A	probably benign	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1155	A	T	2: 87,943,174	Y151*	probably null	Het
Olfr19	A	T	16: 16,673,920	D20E	probably benign	Het
Olfr213	C	T	6: 116,540,600	T49M	probably benign	Het
Olfr266	T	G	3: 106,822,322	N79T	possibly damaging	Het
Olfr483	T	C	7: 108,103,567	V86A	probably benign	Het
Olfr596	C	A	7: 103,309,793	A24D	probably benign	Het
Olfr609	T	A	7: 103,492,651	T76S	probably damaging	Het
Olfr847	T	C	9: 19,374,941	*313W	probably null	Het
Pcdhb5	T	A	18: 37,320,880	H104Q	probably benign	Het
Phf11a	T	C	14: 59,277,537	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,492,789	T478I	probably benign	Het
Prkacb	T	A	3: 146,732,646	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,773,793	D221E	probably damaging	Het
Prr11	T	A	11: 87,106,124	K5*	probably null	Het
Prrc2b	G	A	2: 32,222,320	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,668,671	Q233*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sash1	C	G	10: 8,729,527	G1033A	probably benign	Het
Sncaip	C	A	18: 52,906,537	S189*	probably null	Het
Sorl1	T	C	9: 42,071,234	Y350C	probably damaging	Het
Speg	T	C	1: 75,406,684	V1141A	possibly damaging	Het
Speg	C	A	1: 75,429,523	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 60,086,723	D224V	probably benign	Het
Tg	G	A	15: 66,759,558	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,784,438	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,921	C278Y	probably damaging	Het
Togaram1	T	C	12: 64,966,590	I205T	possibly damaging	Het
Usp19	T	A	9: 108,496,883	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,351,759	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,534,502	S475P	probably damaging	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
R0244:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
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
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
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'- TGTAGGACAGTCCGGTTCTG -3'
(R):5'- CACTGAGAAACCTAGGAGGACC -3'

Sequencing Primer
(F):5'- GCCTCTTCGTGGACCTAAG -3'
(R):5'- TGAACGGGGATGCTCATGC -3'

Posted On

2018-06-22