Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Kcnq4'

579654

Institutional Source

Beutler Lab

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

MMRRC Submission

045553-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120553331-120604687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120573022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 260 (A260T)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

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

AlphaFold

Q9JK97

Predicted Effect

probably damaging
Transcript: ENSMUST00000030376
AA Change: A260T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: A260T

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587 (GRCm39)	Y168C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Dusp10	C	A	1: 183,769,617 (GRCm39)	H194Q	probably damaging	Het
Eln	C	G	5: 134,736,429 (GRCm39)	G753A	unknown	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Grm2	A	T	9: 106,531,050 (GRCm39)	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Mug1	T	A	6: 121,855,467 (GRCm39)	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	probably benign	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
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'- CACAGCCTTAGTGTGAAGAGAC -3'
(R):5'- TGCCATGATTAAGGGCAGGC -3'

Sequencing Primer
(F):5'- CCTTAGTGTGAAGAGACAAGGAC -3'
(R):5'- ATTAAGGGCAGGCCTGGGC -3'

Posted On

2019-10-07