Mutagenetix > Incidental Mutation

Incidental Mutation 'R4729:Kcnq4'

358666

Institutional Source

Beutler Lab

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

MMRRC Submission

041603-MU

Accession Numbers

Essential gene?

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

Stock #

R4729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120553331-120604687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120570271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 357 (D357E)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

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

AlphaFold

Q9JK97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030376
AA Change: D357E

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: D357E

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,187 (GRCm39)	L220H	unknown	Het
Amt	T	A	9: 108,177,851 (GRCm39)	L272Q	probably damaging	Het
Ank2	G	C	3: 126,770,545 (GRCm39)	Y894*	probably null	Het
Ankzf1	T	A	1: 75,170,908 (GRCm39)	F105I	probably damaging	Het
Aox4	C	A	1: 58,298,236 (GRCm39)	Y1067*	probably null	Het
BC034090	T	A	1: 155,100,836 (GRCm39)	Q476L	probably damaging	Het
Bhmt	G	T	13: 93,763,871 (GRCm39)	R57S	probably damaging	Het
Cacna1c	A	T	6: 118,633,136 (GRCm39)	F964L	probably damaging	Het
Celsr3	A	C	9: 108,724,851 (GRCm39)	S396R	probably benign	Het
Cpne4	C	A	9: 104,799,755 (GRCm39)	Q191K	probably damaging	Het
Csnk1g2	T	C	10: 80,475,038 (GRCm39)	Y352H	probably benign	Het
D630003M21Rik	A	G	2: 158,058,623 (GRCm39)	S426P	probably damaging	Het
Dennd10	T	A	19: 60,823,309 (GRCm39)	F315I	probably benign	Het
Dido1	G	T	2: 180,329,443 (GRCm39)	N326K	probably benign	Het
E2f2	T	A	4: 135,911,760 (GRCm39)	I257N	probably damaging	Het
Elfn1	T	G	5: 139,959,413 (GRCm39)	F806V	probably damaging	Het
Eml6	T	A	11: 29,783,204 (GRCm39)	Y559F	probably damaging	Het
Erich6	A	G	3: 58,543,480 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,617 (GRCm39)	N101S	probably damaging	Het
Fam83h	A	G	15: 75,874,185 (GRCm39)	S1051P	probably benign	Het
Galns	C	T	8: 123,330,195 (GRCm39)	G112D	probably damaging	Het
Gm9923	A	G	10: 72,145,524 (GRCm39)	K125R	probably damaging	Het
Hectd3	G	A	4: 116,854,415 (GRCm39)	V326M	probably damaging	Het
Iars2	A	G	1: 185,048,248 (GRCm39)	S495P	possibly damaging	Het
Ice1	T	C	13: 70,754,503 (GRCm39)	R528G	probably damaging	Het
Igkv12-38	T	A	6: 69,920,368 (GRCm39)	Y50F	possibly damaging	Het
Inpp5j	T	C	11: 3,445,025 (GRCm39)	S883G	probably damaging	Het
Irf8	T	C	8: 121,480,178 (GRCm39)	S139P	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Klhl1	A	G	14: 96,517,584 (GRCm39)	L364P	probably damaging	Het
Krt7	A	G	15: 101,318,439 (GRCm39)	I309V	probably benign	Het
Krt76	G	T	15: 101,797,516 (GRCm39)	A281D	probably damaging	Het
Lancl2	T	C	6: 57,714,697 (GRCm39)	F430L	probably damaging	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc26	A	T	2: 25,180,076 (GRCm39)	T26S	probably benign	Het
Lrrk1	T	A	7: 65,912,041 (GRCm39)	M1840L	probably benign	Het
Lyst	G	A	13: 13,812,486 (GRCm39)	C966Y	probably damaging	Het
Mad1l1	T	A	5: 140,247,266 (GRCm39)	S354C	possibly damaging	Het
Mbtps1	C	T	8: 120,252,159 (GRCm39)	G577D	probably damaging	Het
Mycbp2	C	T	14: 103,426,027 (GRCm39)	R2366H	probably damaging	Het
Myo18a	T	G	11: 77,668,511 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,639 (GRCm39)	R866C	possibly damaging	Het
Nav2	T	A	7: 49,102,567 (GRCm39)	V455E	probably benign	Het
Neb	A	G	2: 52,153,674 (GRCm39)	I2417T	possibly damaging	Het
Nme5	C	T	18: 34,702,890 (GRCm39)	A133T	probably benign	Het
Nradd	T	C	9: 110,450,979 (GRCm39)	D51G	possibly damaging	Het
Pard3b	A	G	1: 62,250,843 (GRCm39)	R591G	probably damaging	Het
Pcbp4	T	C	9: 106,337,929 (GRCm39)	F73S	probably damaging	Het
Pcdhb11	C	T	18: 37,555,419 (GRCm39)	Q250*	probably null	Het
Pde1c	T	A	6: 56,049,194 (GRCm39)	K766N	probably damaging	Het
Phf21b	G	A	15: 84,738,942 (GRCm39)	Q40*	probably null	Het
Prr14	A	G	7: 127,073,868 (GRCm39)	D244G	probably benign	Het
Rab11fip5	C	T	6: 85,351,249 (GRCm39)	A88T	probably damaging	Het
Rad54l2	A	T	9: 106,593,317 (GRCm39)	S428T	probably benign	Het
Rdh9	A	G	10: 127,612,621 (GRCm39)	I90V	probably benign	Het
Rhag	G	T	17: 41,139,292 (GRCm39)	G76C	probably damaging	Het
Riok3	T	A	18: 12,261,984 (GRCm39)	V6E	possibly damaging	Het
Rnf7l	A	T	10: 63,257,244 (GRCm39)	V92E	probably damaging	Het
Scn10a	A	G	9: 119,500,592 (GRCm39)	I229T	probably damaging	Het
Slco1a1	G	T	6: 141,854,695 (GRCm39)	T652K	probably benign	Het
Slit1	T	A	19: 41,635,459 (GRCm39)	I345F	probably damaging	Het
Snrnp200	A	T	2: 127,074,857 (GRCm39)	I1477F	probably damaging	Het
Snx31	G	A	15: 36,523,698 (GRCm39)	T328I	possibly damaging	Het
Strn	A	G	17: 78,965,390 (GRCm39)	F634S	probably damaging	Het
Tmem101	C	T	11: 102,047,155 (GRCm39)	G6R	probably benign	Het
Tmem199	C	G	11: 78,399,506 (GRCm39)	G131R	probably benign	Het
Trim66	A	G	7: 109,055,267 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,681,929 (GRCm39)		probably benign	Het
Upk3bl	T	C	5: 136,086,247 (GRCm39)	L61P	probably benign	Het
Vmn2r108	A	G	17: 20,692,632 (GRCm39)	Y75H	probably damaging	Het
Vmn2r91	T	A	17: 18,327,906 (GRCm39)	I500K	probably damaging	Het
Vps18	C	T	2: 119,124,272 (GRCm39)	R400C	probably damaging	Het
Zeb1	C	T	18: 5,767,286 (GRCm39)	P599L	probably damaging	Het
Zfhx4	G	T	3: 5,464,557 (GRCm39)	A1572S	probably damaging	Het
Zfp677	T	A	17: 21,617,680 (GRCm39)	C246S	possibly damaging	Het
Zfp719	T	A	7: 43,239,834 (GRCm39)	I474N	probably 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
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'- GAGCTAGTCCCAGATGTTCC -3'
(R):5'- CTCTGGTGCCAGTTTACTGAG -3'

Sequencing Primer
(F):5'- CAGATGTTCCTTCGGGAGCTATC -3'
(R):5'- GCCAGTTTACTGAGGAAGTCG -3'

Posted On

2015-11-11