Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Kcnq4'

84080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

120696138-120748612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120717032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 143 (V143A)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030376]

AlphaFold

Q9JK97

Predicted Effect

probably damaging
Transcript: ENSMUST00000030376
AA Change: V143A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: V143A

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	36	77	N/A	INTRINSIC
Pfam:Ion_trans	99	331	1.2e-28	PFAM
Pfam:Ion_trans_2	244	324	5.4e-16	PFAM
Pfam:KCNQ_channel	465	655	1.6e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129478

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Kcnq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00225:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00228:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00310:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00330:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00333:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00335:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00336:Kcnq4	APN	4	120698016	nonsense	probably null
IGL01143:Kcnq4	APN	4	120698623	missense	probably damaging	1.00
IGL02095:Kcnq4	APN	4	120700027	splice site	probably benign
IGL02335:Kcnq4	APN	4	120715854	missense	probably damaging	1.00
IGL03188:Kcnq4	APN	4	120704426	missense	possibly damaging	0.81
R0045:Kcnq4	UTSW	4	120697955	missense	probably damaging	0.99
R0045:Kcnq4	UTSW	4	120697955	missense	probably damaging	0.99
R0423:Kcnq4	UTSW	4	120717508	missense	probably damaging	1.00
R0483:Kcnq4	UTSW	4	120716601	missense	probably damaging	1.00
R0837:Kcnq4	UTSW	4	120746861	missense	probably benign	0.00
R1722:Kcnq4	UTSW	4	120702427	missense	probably benign	0.00
R1826:Kcnq4	UTSW	4	120704504	missense	probably benign	0.00
R2059:Kcnq4	UTSW	4	120698002	missense	probably benign	0.00
R4327:Kcnq4	UTSW	4	120711364	missense	probably benign	0.00
R4690:Kcnq4	UTSW	4	120717011	missense	probably damaging	0.99
R4706:Kcnq4	UTSW	4	120704486	missense	probably benign
R4729:Kcnq4	UTSW	4	120713074	missense	possibly damaging	0.47
R4806:Kcnq4	UTSW	4	120713094	missense	probably damaging	1.00
R4859:Kcnq4	UTSW	4	120716613	missense	probably damaging	1.00
R4885:Kcnq4	UTSW	4	120713063	missense	probably benign	0.01
R5073:Kcnq4	UTSW	4	120717517	missense	probably damaging	1.00
R5517:Kcnq4	UTSW	4	120715809	missense	possibly damaging	0.66
R5590:Kcnq4	UTSW	4	120715885	missense	probably damaging	0.98
R5653:Kcnq4	UTSW	4	120702411	missense	probably benign	0.00
R5750:Kcnq4	UTSW	4	120715049	missense	probably damaging	1.00
R6141:Kcnq4	UTSW	4	120715869	missense	probably damaging	1.00
R6160:Kcnq4	UTSW	4	120716559	missense	probably damaging	1.00
R7087:Kcnq4	UTSW	4	120704399	missense	probably damaging	0.96
R7088:Kcnq4	UTSW	4	120704399	missense	probably damaging	0.96
R7143:Kcnq4	UTSW	4	120711239	missense	probably benign	0.05
R7225:Kcnq4	UTSW	4	120746914	missense	probably benign	0.03
R7479:Kcnq4	UTSW	4	120715825	missense	probably damaging	0.98
R7574:Kcnq4	UTSW	4	120711368	missense	probably benign
R7879:Kcnq4	UTSW	4	120702435	missense	probably benign	0.13
R7980:Kcnq4	UTSW	4	120711297	missense	probably benign	0.02
R9007:Kcnq4	UTSW	4	120697953	missense	probably benign	0.01
R9421:Kcnq4	UTSW	4	120716671	missense	possibly damaging	0.48
R9468:Kcnq4	UTSW	4	120711297	missense	probably benign	0.02
R9774:Kcnq4	UTSW	4	120715879	missense	probably damaging	0.99
X0020:Kcnq4	UTSW	4	120715327	missense	probably damaging	1.00
Z1176:Kcnq4	UTSW	4	120698497	critical splice donor site	probably null

Posted On

2013-11-11