Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Kcnh4'

232950

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

040118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2114 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

100631202-100650768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100650421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 4 (M4T)

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 damaging
Transcript: ENSMUST00000107361
AA Change: M4T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: M4T

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 damaging
Transcript: ENSMUST00000107363
AA Change: M4T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: M4T

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: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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'- CGGCGCTTCATGTCTTGATC -3'
(R):5'- GCAGAGCTTAGAACTAACAGGTTCAG -3'

Sequencing Primer
(F):5'- ACTCTCAAGGGTTCTGCACC -3'
(R):5'- GCTTAGAACTAACAGGTTCAGAGCAC -3'

Posted On

2014-09-18