Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Kcnh4'

66271

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

038480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100631202-100650768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100646525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 267 (D267G)

Ref Sequence

ENSEMBL: ENSMUSP00000102986 (fasta)

Gene Model

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

AlphaFold

A2A5F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000107361
AA Change: D267G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: D267G

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: D267G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: D267G

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

0.9674

Coding Region Coverage

1x: 98.7%
3x: 97.2%
10x: 90.8%
20x: 69.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,676 (GRCm39)	D230G	probably benign	Het
Abhd13	A	G	8: 10,037,561 (GRCm39)	I53V	probably benign	Het
Adgrl2	A	C	3: 148,544,821 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,794,088 (GRCm39)	A596V	probably damaging	Het
Aldh3b2	T	A	19: 4,029,414 (GRCm39)	Y262*	probably null	Het
Ambn	A	G	5: 88,615,831 (GRCm39)	Q420R	possibly damaging	Het
Arhgap9	C	A	10: 127,165,407 (GRCm39)	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,019,933 (GRCm39)	G435E	probably damaging	Het
Armc12	A	T	17: 28,751,366 (GRCm39)	D120V	possibly damaging	Het
Asxl3	G	A	18: 22,649,738 (GRCm39)	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,776 (GRCm39)	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,546,437 (GRCm39)	T483M	probably damaging	Het
Caprin2	C	T	6: 148,744,452 (GRCm39)	S991N	probably damaging	Het
Cd96	T	C	16: 45,892,129 (GRCm39)	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,009,237 (GRCm39)	F480L	probably benign	Het
Celf5	T	C	10: 81,300,243 (GRCm39)	T258A	probably benign	Het
Clca3b	A	G	3: 144,547,226 (GRCm39)	S304P	probably benign	Het
Cmya5	A	T	13: 93,232,108 (GRCm39)	H993Q	probably benign	Het
Cnbp	A	T	6: 87,822,746 (GRCm39)	C6S	probably damaging	Het
Col14a1	C	T	15: 55,360,907 (GRCm39)	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,941,817 (GRCm39)	N11S	probably benign	Het
Cpvl	T	C	6: 53,909,485 (GRCm39)	H217R	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,369 (GRCm39)	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,668,710 (GRCm39)	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,777,562 (GRCm39)	D268G	probably benign	Het
Dnm1	T	A	2: 32,207,001 (GRCm39)	M535L	possibly damaging	Het
Dock7	A	T	4: 98,850,517 (GRCm39)	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,326,275 (GRCm39)	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,616,285 (GRCm39)	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,548,761 (GRCm39)	E21G	probably null	Het
Fam120b	T	A	17: 15,643,186 (GRCm39)	V655D	probably damaging	Het
Fkbp5	A	T	17: 28,647,426 (GRCm39)	D136E	probably benign	Het
Gfer	A	G	17: 24,913,277 (GRCm39)	W192R	probably damaging	Het
Golgb1	C	T	16: 36,695,992 (GRCm39)	Q164*	probably null	Het
Gpnmb	A	G	6: 49,024,276 (GRCm39)	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,310,802 (GRCm39)	T414M	probably benign	Het
Helz2	C	T	2: 180,872,223 (GRCm39)	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 93,988,160 (GRCm39)	I19F	probably benign	Het
Incenp	T	C	19: 9,871,114 (GRCm39)	T172A	unknown	Het
Jmy	A	G	13: 93,578,126 (GRCm39)	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,077,508 (GRCm39)	T36A	probably benign	Het
Krt40	T	A	11: 99,429,568 (GRCm39)	E335D	probably damaging	Het
Krt86	T	A	15: 101,374,454 (GRCm39)	Y282*	probably null	Het
Lgi3	C	T	14: 70,772,255 (GRCm39)	R267*	probably null	Het
Lrp1b	T	A	2: 40,888,195 (GRCm39)	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,285,401 (GRCm39)	R542H	probably benign	Het
Mast4	G	A	13: 102,990,350 (GRCm39)	S57F	probably damaging	Het
Mia2	T	C	12: 59,155,642 (GRCm39)	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,561,738 (GRCm39)	R132Q	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mtbp	T	A	15: 55,440,882 (GRCm39)	N356K	possibly damaging	Het
Myo5b	A	G	18: 74,794,787 (GRCm39)	H552R	possibly damaging	Het
Niban1	A	G	1: 151,593,967 (GRCm39)	D884G	probably benign	Het
Noxred1	A	G	12: 87,273,753 (GRCm39)	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933 (GRCm38)	D390V	possibly damaging	Het
Odad2	A	T	18: 7,211,516 (GRCm39)	V786D	probably damaging	Het
Or1r1	T	C	11: 73,874,538 (GRCm39)	S299G	probably benign	Het
Or6c1b	T	A	10: 129,273,217 (GRCm39)	Y179N	probably damaging	Het
Otog	G	T	7: 45,916,805 (GRCm39)	C914F	probably damaging	Het
Pank2	G	T	2: 131,122,117 (GRCm39)	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,399,788 (GRCm39)	S580T	probably benign	Het
Pdia3	T	C	2: 121,244,592 (GRCm39)	S2P	probably damaging	Het
Peli1	G	T	11: 21,092,602 (GRCm39)	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,441,935 (GRCm39)	C366*	probably null	Het
Pon3	T	A	6: 5,240,860 (GRCm39)	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,668,816 (GRCm39)	C532R	probably damaging	Het
Psd3	A	G	8: 68,210,738 (GRCm39)	M270T	probably damaging	Het
Pus1	A	T	5: 110,927,664 (GRCm39)	H30Q	probably benign	Het
Pwwp3a	T	C	10: 80,070,092 (GRCm39)	S354P	probably benign	Het
Rab7	A	T	6: 87,982,114 (GRCm39)	V87E	probably damaging	Het
Reln	A	G	5: 22,147,595 (GRCm39)		probably null	Het
S1pr3	A	G	13: 51,572,938 (GRCm39)	T40A	probably benign	Het
Senp7	T	A	16: 55,999,884 (GRCm39)	I853N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shroom1	T	G	11: 53,356,312 (GRCm39)		probably null	Het
Slc24a3	T	C	2: 145,448,584 (GRCm39)	I376T	probably benign	Het
Slc46a1	T	C	11: 78,359,493 (GRCm39)	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,666,733 (GRCm39)	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,674,286 (GRCm39)	I924N	probably damaging	Het
Slx4	T	A	16: 3,804,816 (GRCm39)	E666V	probably damaging	Het
Sorcs1	C	T	19: 50,216,659 (GRCm39)	G640E	probably damaging	Het
Spmap2l	G	T	5: 77,164,152 (GRCm39)	E52*	probably null	Het
Sptan1	A	T	2: 29,908,413 (GRCm39)	M1725L	probably benign	Het
Sync	G	A	4: 129,187,514 (GRCm39)	R182K	probably damaging	Het
Syne2	G	A	12: 76,144,808 (GRCm39)	G1586S	probably damaging	Het
Sytl1	G	T	4: 132,980,768 (GRCm39)	T522K	probably damaging	Het
Tex2	T	A	11: 106,410,781 (GRCm39)	K414*	probably null	Het
Thsd7a	G	A	6: 12,503,915 (GRCm39)	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,875,392 (GRCm39)	A451T	possibly damaging	Het
Ttn	A	T	2: 76,656,496 (GRCm39)		probably benign	Het
Uba2	T	C	7: 33,854,054 (GRCm39)	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,842,762 (GRCm39)	G361*	probably null	Het
Wbp2nl	C	T	15: 82,197,988 (GRCm39)	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,738,330 (GRCm39)	E212G	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
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

Posted On

2013-08-19