Mutagenetix > Incidental Mutation

Incidental Mutation 'R4706:Kcnq4'

355208

Institutional Source

Beutler Lab

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

MMRRC Submission

041954-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

R4706 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

120553331-120604687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120561683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 462 (I462T)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

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

AlphaFold

Q9JK97

Predicted Effect

probably benign
Transcript: ENSMUST00000030376
AA Change: I462T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: I462T

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,064,988 (GRCm39)	N548K	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Afap1l2	A	T	19: 56,925,672 (GRCm39)	I152N	possibly damaging	Het
Ankrd52	T	G	10: 128,214,030 (GRCm39)	M62R	probably benign	Het
Aox4	A	T	1: 58,305,946 (GRCm39)	T1317S	probably damaging	Het
Apol7c	T	A	15: 77,409,923 (GRCm39)	Q341L	probably benign	Het
Arhgef4	C	T	1: 34,771,298 (GRCm39)	R1202W	probably benign	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
Cecr2	A	T	6: 120,732,539 (GRCm39)	E477V	possibly damaging	Het
Chmp7	A	T	14: 69,956,010 (GRCm39)	D419E	probably benign	Het
Cmip	A	C	8: 118,103,893 (GRCm39)	K127T	probably damaging	Het
Csmd2	T	C	4: 128,438,544 (GRCm39)	V3041A	probably benign	Het
Cyp1b1	T	A	17: 80,020,771 (GRCm39)	I324F	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Ddx10	T	C	9: 53,145,231 (GRCm39)	T249A	probably damaging	Het
Dscaml1	T	C	9: 45,361,878 (GRCm39)	Y213H	probably damaging	Het
Eef1a2	T	C	2: 180,797,150 (GRCm39)	D17G	probably damaging	Het
Fbn1	T	C	2: 125,212,069 (GRCm39)	I848V	probably benign	Het
Fbxw18	A	G	9: 109,519,585 (GRCm39)	I307T	probably benign	Het
Fxr1	T	A	3: 34,118,278 (GRCm39)	D500E	probably damaging	Het
Gars1	G	A	6: 55,046,363 (GRCm39)	G492D	probably damaging	Het
Gria2	A	T	3: 80,648,297 (GRCm39)	D146E	probably benign	Het
Gstz1	A	G	12: 87,205,894 (GRCm39)	N37S	probably benign	Het
Hnrnph3	C	A	10: 62,853,059 (GRCm39)	G194V	probably damaging	Het
Il2rb	T	C	15: 78,370,600 (GRCm39)	R172G	possibly damaging	Het
Itga11	T	A	9: 62,662,578 (GRCm39)	V517D	possibly damaging	Het
Klf6	T	A	13: 5,911,639 (GRCm39)	M1K	probably null	Het
Lrp8	G	A	4: 107,718,470 (GRCm39)	A817T	probably benign	Het
Map3k5	T	A	10: 19,934,684 (GRCm39)	Y509N	probably damaging	Het
Mdc1	C	T	17: 36,163,671 (GRCm39)	S1073F	probably damaging	Het
Mme	A	G	3: 63,256,133 (GRCm39)	D531G	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	A	T	4: 106,548,821 (GRCm39)	V1014E	possibly damaging	Het
Msantd5l	A	T	11: 51,144,668 (GRCm39)	F204L	possibly damaging	Het
Myo1d	C	T	11: 80,557,467 (GRCm39)	C491Y	probably damaging	Het
Ncoa3	C	A	2: 165,889,799 (GRCm39)	D61E	probably damaging	Het
Nmrk1	A	G	19: 18,622,491 (GRCm39)	E190G	probably benign	Het
Nr4a2	G	T	2: 57,002,225 (GRCm39)	P13H	probably damaging	Het
Nup205	T	C	6: 35,178,943 (GRCm39)	L671P	probably damaging	Het
Omt2a	T	C	9: 78,220,352 (GRCm39)	I16V	probably benign	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or51f2	T	A	7: 102,526,640 (GRCm39)	H104Q	probably damaging	Het
Or6n1	A	G	1: 173,917,268 (GRCm39)	I221V	probably damaging	Het
Or8k24	G	A	2: 86,216,732 (GRCm39)	T10I	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Osbpl9	A	T	4: 109,013,884 (GRCm39)	I70N	probably damaging	Het
Pclo	A	T	5: 14,764,221 (GRCm39)	L4231F	unknown	Het
Per1	C	T	11: 68,991,444 (GRCm39)		probably benign	Het
Perm1	G	T	4: 156,301,531 (GRCm39)	C25F	probably damaging	Het
Phf3	A	G	1: 30,844,687 (GRCm39)	V1424A	probably damaging	Het
Plxnb1	T	G	9: 108,941,096 (GRCm39)	L1625R	probably damaging	Het
Ppid	G	A	3: 79,506,359 (GRCm39)	V216I	probably benign	Het
Ppp4r3a	C	T	12: 101,008,175 (GRCm39)	G754D	probably damaging	Het
Prex2	G	T	1: 11,270,212 (GRCm39)	W1299L	probably damaging	Het
Ptprn2	C	A	12: 116,835,714 (GRCm39)	Q350K	probably benign	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rbm8a	G	A	3: 96,537,368 (GRCm39)		probably benign	Het
Relch	T	A	1: 105,620,004 (GRCm39)	M353K	probably benign	Het
Ros1	A	G	10: 51,977,990 (GRCm39)	S1419P	possibly damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Rtel1	T	C	2: 180,965,539 (GRCm39)		probably null	Het
Sacs	A	G	14: 61,441,722 (GRCm39)	E1256G	probably damaging	Het
Sec23a	A	G	12: 59,029,372 (GRCm39)	V467A	probably damaging	Het
Sec24d	T	A	3: 123,149,427 (GRCm39)	N811K	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Shisa5	T	A	9: 108,885,128 (GRCm39)	C133S	probably null	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a31	G	A	3: 40,670,975 (GRCm39)	A89T	probably damaging	Het
Slc6a1	G	T	6: 114,284,713 (GRCm39)	R257L	possibly damaging	Het
Sntb1	C	T	15: 55,612,670 (GRCm39)	V303M	probably benign	Het
Snx20	A	G	8: 89,354,439 (GRCm39)	V97A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,136 (GRCm39)	N285K	probably benign	Het
Vmn2r98	T	G	17: 19,290,007 (GRCm39)	S514R	probably damaging	Het
Zfp28	A	T	7: 6,392,793 (GRCm39)	E156D	probably damaging	Het
Zfp39	A	G	11: 58,793,633 (GRCm39)	V35A	probably benign	Het
Zfp536	A	C	7: 37,268,891 (GRCm39)	I175S	probably damaging	Het
Zic5	A	T	14: 122,696,969 (GRCm39)	S549T	unknown	Het

Other mutations in Kcnq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00225:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00228:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00310:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00330:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00333:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00335:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL00336:Kcnq4	APN	4	120,555,213 (GRCm39)	nonsense	probably null
IGL01143:Kcnq4	APN	4	120,555,820 (GRCm39)	missense	probably damaging	1.00
IGL01373:Kcnq4	APN	4	120,574,229 (GRCm39)	missense	probably damaging	1.00
IGL02095:Kcnq4	APN	4	120,557,224 (GRCm39)	splice site	probably benign
IGL02335:Kcnq4	APN	4	120,573,051 (GRCm39)	missense	probably damaging	1.00
IGL03188:Kcnq4	APN	4	120,561,623 (GRCm39)	missense	possibly damaging	0.81
R0045:Kcnq4	UTSW	4	120,555,152 (GRCm39)	missense	probably damaging	0.99
R0045:Kcnq4	UTSW	4	120,555,152 (GRCm39)	missense	probably damaging	0.99
R0423:Kcnq4	UTSW	4	120,574,705 (GRCm39)	missense	probably damaging	1.00
R0483:Kcnq4	UTSW	4	120,573,798 (GRCm39)	missense	probably damaging	1.00
R0837:Kcnq4	UTSW	4	120,604,058 (GRCm39)	missense	probably benign	0.00
R1722:Kcnq4	UTSW	4	120,559,624 (GRCm39)	missense	probably benign	0.00
R1826:Kcnq4	UTSW	4	120,561,701 (GRCm39)	missense	probably benign	0.00
R2059:Kcnq4	UTSW	4	120,555,199 (GRCm39)	missense	probably benign	0.00
R4327:Kcnq4	UTSW	4	120,568,561 (GRCm39)	missense	probably benign	0.00
R4690:Kcnq4	UTSW	4	120,574,208 (GRCm39)	missense	probably damaging	0.99
R4729:Kcnq4	UTSW	4	120,570,271 (GRCm39)	missense	possibly damaging	0.47
R4806:Kcnq4	UTSW	4	120,570,291 (GRCm39)	missense	probably damaging	1.00
R4859:Kcnq4	UTSW	4	120,573,810 (GRCm39)	missense	probably damaging	1.00
R4885:Kcnq4	UTSW	4	120,570,260 (GRCm39)	missense	probably benign	0.01
R5073:Kcnq4	UTSW	4	120,574,714 (GRCm39)	missense	probably damaging	1.00
R5517:Kcnq4	UTSW	4	120,573,006 (GRCm39)	missense	possibly damaging	0.66
R5590:Kcnq4	UTSW	4	120,573,082 (GRCm39)	missense	probably damaging	0.98
R5653:Kcnq4	UTSW	4	120,559,608 (GRCm39)	missense	probably benign	0.00
R5750:Kcnq4	UTSW	4	120,572,246 (GRCm39)	missense	probably damaging	1.00
R6141:Kcnq4	UTSW	4	120,573,066 (GRCm39)	missense	probably damaging	1.00
R6160:Kcnq4	UTSW	4	120,573,756 (GRCm39)	missense	probably damaging	1.00
R7087:Kcnq4	UTSW	4	120,561,596 (GRCm39)	missense	probably damaging	0.96
R7088:Kcnq4	UTSW	4	120,561,596 (GRCm39)	missense	probably damaging	0.96
R7143:Kcnq4	UTSW	4	120,568,436 (GRCm39)	missense	probably benign	0.05
R7225:Kcnq4	UTSW	4	120,604,111 (GRCm39)	missense	probably benign	0.03
R7479:Kcnq4	UTSW	4	120,573,022 (GRCm39)	missense	probably damaging	0.98
R7574:Kcnq4	UTSW	4	120,568,565 (GRCm39)	missense	probably benign
R7879:Kcnq4	UTSW	4	120,559,632 (GRCm39)	missense	probably benign	0.13
R7980:Kcnq4	UTSW	4	120,568,494 (GRCm39)	missense	probably benign	0.02
R9007:Kcnq4	UTSW	4	120,555,150 (GRCm39)	missense	probably benign	0.01
R9421:Kcnq4	UTSW	4	120,573,868 (GRCm39)	missense	possibly damaging	0.48
R9468:Kcnq4	UTSW	4	120,568,494 (GRCm39)	missense	probably benign	0.02
R9774:Kcnq4	UTSW	4	120,573,076 (GRCm39)	missense	probably damaging	0.99
X0020:Kcnq4	UTSW	4	120,572,524 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnq4	UTSW	4	120,555,694 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCTAGAGCAGACAATCCAAGC -3'
(R):5'- TGATGGAAACCAAGACCCAG -3'

Sequencing Primer
(F):5'- TACCCAAGCTGCCTCTAGC -3'
(R):5'- GTAGCAGCCCCCTAGATCATCTAG -3'

Posted On

2015-10-21