Mutagenetix > Incidental Mutation

Incidental Mutation 'R7574:Kcnq4'

586222

Institutional Source

Beutler Lab

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

MMRRC Submission

045660-MU

Accession Numbers

Essential gene?

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

Stock #

R7574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120553331-120604687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120568565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 384 (F384L)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

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

AlphaFold

Q9JK97

Predicted Effect

probably benign
Transcript: ENSMUST00000030376
AA Change: F384L

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

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: F384L

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,478 (GRCm39)	V240A	probably damaging	Het
A930009A15Rik	C	T	10: 115,406,019 (GRCm39)		probably benign	Het
Aarsd1	A	G	11: 101,301,970 (GRCm39)	I201T	probably damaging	Het
Acaca	T	A	11: 84,152,414 (GRCm39)	Y854N	probably benign	Het
Adra2c	T	C	5: 35,437,759 (GRCm39)	L177P	probably damaging	Het
Akr1c12	A	T	13: 4,329,309 (GRCm39)	I16N	probably damaging	Het
Aldh8a1	A	T	10: 21,256,729 (GRCm39)	I47F	possibly damaging	Het
Birc6	A	G	17: 74,886,879 (GRCm39)	I736V	probably benign	Het
Bmp2	A	T	2: 133,402,817 (GRCm39)	M123L	probably benign	Het
C1ql1	T	C	11: 102,836,812 (GRCm39)	Y159C	probably damaging	Het
Ccdc148	T	C	2: 58,713,645 (GRCm39)	Y502C	probably damaging	Het
Ccdc168	A	T	1: 44,098,593 (GRCm39)	V835E	possibly damaging	Het
Cenpf	A	T	1: 189,390,864 (GRCm39)	N989K	probably damaging	Het
Ciz1	A	G	2: 32,257,380 (GRCm39)	M142V	probably benign	Het
Cnot4	T	C	6: 35,029,939 (GRCm39)	R320G	possibly damaging	Het
Cyth1	G	T	11: 118,073,689 (GRCm39)	H215N	probably damaging	Het
Dapk1	G	A	13: 60,908,987 (GRCm39)	G1200D	probably damaging	Het
Dhps	A	G	8: 85,799,181 (GRCm39)	Y103C	probably damaging	Het
Dnah1	T	A	14: 31,041,865 (GRCm39)	E35D	probably benign	Het
Dnajb9	A	T	12: 44,254,169 (GRCm39)	D79E	probably damaging	Het
Eif4a2	T	C	16: 22,928,877 (GRCm39)	F164S	probably benign	Het
Enpp2	T	C	15: 54,714,813 (GRCm39)	T595A	probably benign	Het
Exoc6b	T	A	6: 84,768,366 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,221,391 (GRCm39)	S286P	probably damaging	Het
Fermt2	T	A	14: 45,706,782 (GRCm39)	N338I	probably damaging	Het
Fhdc1	A	G	3: 84,353,438 (GRCm39)	F596L	probably benign	Het
Fry	T	C	5: 150,304,359 (GRCm39)	V583A	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdap1	T	A	1: 17,231,665 (GRCm39)	F337I	possibly damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gpr6	A	T	10: 40,946,652 (GRCm39)	I310N	possibly damaging	Het
Gpsm2	G	A	3: 108,608,061 (GRCm39)	A239V	probably damaging	Het
Hexa	T	C	9: 59,471,267 (GRCm39)	V507A	probably benign	Het
Hmcn2	A	T	2: 31,345,531 (GRCm39)	H4718L	possibly damaging	Het
Hrh4	T	C	18: 13,154,970 (GRCm39)	F170L	possibly damaging	Het
Ica1	T	C	6: 8,658,266 (GRCm39)	T284A	probably benign	Het
Itga5	T	C	15: 103,258,876 (GRCm39)	N774S	probably damaging	Het
Itgb2	T	C	10: 77,395,992 (GRCm39)	S556P	probably benign	Het
Kash5	A	T	7: 44,854,035 (GRCm39)	H31Q	possibly damaging	Het
Lama2	A	T	10: 26,882,726 (GRCm39)	N2612K	probably benign	Het
Lnx1	T	C	5: 74,846,099 (GRCm39)	E117G	probably benign	Het
Lrrc14b	G	T	13: 74,508,892 (GRCm39)	A505E	probably damaging	Het
Ly6g	T	C	15: 75,030,413 (GRCm39)	I77T	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgpre	C	T	7: 143,335,087 (GRCm39)	V139M	probably damaging	Het
Muc4	T	A	16: 32,753,411 (GRCm38)	S1096T	probably benign	Het
Myrfl	G	A	10: 116,667,430 (GRCm39)	R337*	probably null	Het
Ndufa4	C	T	6: 11,906,092 (GRCm39)	V20I	probably benign	Het
Nf1	A	G	11: 79,299,595 (GRCm39)	D241G	probably null	Het
Nid1	A	G	13: 13,643,028 (GRCm39)	D322G	probably benign	Het
Nova1	A	T	12: 46,747,544 (GRCm39)	D244E	unknown	Het
Or11g27	T	A	14: 50,771,770 (GRCm39)	D300E	probably benign	Het
Or4a68	T	C	2: 89,269,745 (GRCm39)	K293E	possibly damaging	Het
Or5m10b	A	G	2: 85,699,350 (GRCm39)	K138R	probably benign	Het
Padi2	C	A	4: 140,676,648 (GRCm39)	N595K	possibly damaging	Het
Pag1	A	G	3: 9,758,951 (GRCm39)	I389T	probably damaging	Het
Pcdh10	G	T	3: 45,335,810 (GRCm39)	G708V	possibly damaging	Het
Pecam1	A	G	11: 106,590,610 (GRCm39)	S55P	probably damaging	Het
Plin3	A	T	17: 56,591,192 (GRCm39)	V196E	possibly damaging	Het
Plxdc1	A	T	11: 97,847,316 (GRCm39)	L119Q	possibly damaging	Het
Pnliprp1	A	T	19: 58,726,681 (GRCm39)	N346I	probably damaging	Het
Ppp1r27	A	T	11: 120,441,856 (GRCm39)	Y8*	probably null	Het
Prg3	A	T	2: 84,819,746 (GRCm39)	D80V	probably damaging	Het
Prmt5	T	C	14: 54,745,347 (GRCm39)	N607D	possibly damaging	Het
Ptprs	A	G	17: 56,730,538 (GRCm39)	F1144L	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rap1gds1	T	A	3: 138,661,976 (GRCm39)	R427*	probably null	Het
Recql5	A	G	11: 115,819,248 (GRCm39)	V106A	probably benign	Het
Resp18	T	C	1: 75,250,615 (GRCm39)	T155A	probably benign	Het
Rfx6	A	G	10: 51,557,914 (GRCm39)	D129G	probably benign	Het
Rsf1	T	A	7: 97,310,374 (GRCm39)	I368K		Het
Sema6a	C	G	18: 47,424,231 (GRCm39)	V226L	probably damaging	Het
Sf1	A	G	19: 6,422,234 (GRCm39)	E220G	probably damaging	Het
Shld2	C	T	14: 33,959,423 (GRCm39)	S853N	probably damaging	Het
Sidt1	T	A	16: 44,079,848 (GRCm39)	Y602F	probably damaging	Het
Slc17a8	A	G	10: 89,428,008 (GRCm39)	I273T	probably benign	Het
Slc28a2b	A	T	2: 122,353,325 (GRCm39)	I502F	not run	Het
Slc41a1	A	T	1: 131,766,889 (GRCm39)	I136F	probably damaging	Het
Snrpb	T	C	2: 130,018,939 (GRCm39)	I51V	probably benign	Het
Sprr2f	T	A	3: 92,273,254 (GRCm39)	C18S	unknown	Het
Stab1	T	C	14: 30,876,622 (GRCm39)	N864S	probably benign	Het
Svil	C	A	18: 5,095,188 (GRCm39)	T1457K	probably benign	Het
Syt1	A	T	10: 108,340,262 (GRCm39)	I352N	probably damaging	Het
Tas2r119	A	G	15: 32,178,279 (GRCm39)	K282E	probably damaging	Het
Timeless	T	C	10: 128,080,538 (GRCm39)	F473S	probably damaging	Het
Tmc3	A	G	7: 83,247,481 (GRCm39)	D192G	probably damaging	Het
Trmt1l	T	A	1: 151,316,591 (GRCm39)	I184N	possibly damaging	Het
Ttll6	G	A	11: 96,025,701 (GRCm39)	V61M	probably damaging	Het
Ttn	C	T	2: 76,632,755 (GRCm39)	E14100K	probably damaging	Het
Txndc2	T	A	17: 65,945,620 (GRCm39)	I186F	possibly damaging	Het
Ubr1	A	T	2: 120,703,672 (GRCm39)	S1553T	possibly damaging	Het
Vmn1r208	T	C	13: 22,956,705 (GRCm39)	N264S	probably benign	Het
Vmn1r87	T	A	7: 12,865,613 (GRCm39)	M225L	probably benign	Het
Vmn2r101	T	A	17: 19,831,899 (GRCm39)	C632S	possibly damaging	Het
Wdr97	T	A	15: 76,241,949 (GRCm39)	Y747*	probably null	Het
Zfp474	T	C	18: 52,772,261 (GRCm39)	S305P	probably benign	Het
Zfp59	A	G	7: 27,552,863 (GRCm39)	N105S	probably benign	Het
Zfp804b	T	A	5: 6,822,301 (GRCm39)	Y254F	possibly damaging	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
R4706:Kcnq4	UTSW	4	120,561,683 (GRCm39)	missense	probably benign
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
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'- ACCTGTCTGGCCATCTGATG -3'
(R):5'- TCTTCAGCGAGGGAGAAAGC -3'

Sequencing Primer
(F):5'- GTCTGGCCATCTGATGACAAC -3'
(R):5'- GGGAGAAAGCTAGTCTCTCCAC -3'

Posted On

2019-10-24