Mutagenetix > Incidental Mutation

Incidental Mutation 'R4885:Kcnq4'

375628

Institutional Source

Beutler Lab

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

MMRRC Submission

042851-MU

Accession Numbers

Essential gene?

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

Stock #

R4885 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

120553331-120604687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120570260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 361 (A361V)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

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

AlphaFold

Q9JK97

Predicted Effect

probably benign
Transcript: ENSMUST00000030376
AA Change: A361V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: A361V

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

Meta Mutation Damage Score

0.0743

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,370,425 (GRCm39)	T317A	probably benign	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adgrb1	A	T	15: 74,444,011 (GRCm39)	M1038L	probably benign	Het
Anapc10	C	T	8: 80,455,779 (GRCm39)	T76I	probably benign	Het
Atosa	T	C	9: 74,913,649 (GRCm39)	L94P	probably damaging	Het
Bptf	C	T	11: 106,965,474 (GRCm39)	S1177N	probably benign	Het
Bsn	A	T	9: 107,984,726 (GRCm39)	Y337*	probably null	Het
Ccl20	T	A	1: 83,095,580 (GRCm39)	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,864,320 (GRCm39)	D122N	probably damaging	Het
Chat	C	G	14: 32,176,567 (GRCm39)	G69A	probably damaging	Het
Cr2	T	A	1: 194,841,039 (GRCm39)	I418F	possibly damaging	Het
Dmxl1	G	C	18: 50,011,862 (GRCm39)	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Eml2	G	A	7: 18,937,935 (GRCm39)	S793N	probably benign	Het
Enox1	T	A	14: 77,958,290 (GRCm39)	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,259,738 (GRCm39)	K92E	probably damaging	Het
Fam234a	T	C	17: 26,432,559 (GRCm39)	H530R	probably benign	Het
Fancm	C	T	12: 65,149,417 (GRCm39)	Q728*	probably null	Het
Fgd3	G	A	13: 49,417,465 (GRCm39)	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,774,301 (GRCm39)	M251V	probably benign	Het
Fsip2	A	T	2: 82,818,438 (GRCm39)	M4724L	probably benign	Het
Gemin6	G	A	17: 80,535,327 (GRCm39)	E96K	probably damaging	Het
Gfi1	C	A	5: 107,871,152 (GRCm39)	V80F	probably damaging	Het
H3c13	G	T	3: 96,176,277 (GRCm39)	V90F	possibly damaging	Het
Hectd1	A	G	12: 51,847,505 (GRCm39)	V442A	probably damaging	Het
Ift80	A	G	3: 68,857,829 (GRCm39)	I272T	probably damaging	Het
Impact	C	G	18: 13,119,430 (GRCm39)	A214G	probably damaging	Het
Insl6	C	T	19: 29,302,556 (GRCm39)	E54K	probably benign	Het
Irak3	T	A	10: 120,018,586 (GRCm39)	D54V	probably damaging	Het
Itk	C	T	11: 46,227,171 (GRCm39)		probably null	Het
Ivl	A	T	3: 92,479,718 (GRCm39)	C116S	probably benign	Het
L1td1	C	T	4: 98,625,548 (GRCm39)	P581L	probably benign	Het
Lrp1b	T	C	2: 41,358,905 (GRCm39)	E656G	probably benign	Het
Macrod2	A	G	2: 140,261,985 (GRCm39)	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,364,837 (GRCm39)	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,590,711 (GRCm39)	I151F	possibly damaging	Het
Mical3	G	A	6: 120,912,214 (GRCm39)	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,383,382 (GRCm39)	E394G	possibly damaging	Het
Myo16	T	A	8: 10,488,892 (GRCm39)	S688T	probably damaging	Het
Neb	T	C	2: 52,176,058 (GRCm39)	Y1467C	probably damaging	Het
Nhsl3	C	T	4: 129,118,238 (GRCm39)	R214Q	probably damaging	Het
Nkx6-3	C	A	8: 23,643,914 (GRCm39)	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,710 (GRCm39)	T264A	possibly damaging	Het
Nnat	G	A	2: 157,403,678 (GRCm39)	C122Y	probably damaging	Het
Notch3	G	A	17: 32,360,351 (GRCm39)	R1527C	probably damaging	Het
Or2y16	C	T	11: 49,335,449 (GRCm39)	T257I	probably damaging	Het
Or5an1c	T	G	19: 12,218,082 (GRCm39)		probably null	Het
Or5h18	A	G	16: 58,847,518 (GRCm39)	Y251H	probably damaging	Het
Pds5b	C	T	5: 150,639,927 (GRCm39)	T14I	probably benign	Het
Phf19	A	T	2: 34,789,718 (GRCm39)	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,364,365 (GRCm39)	D118G	probably benign	Het
Pkhd1	T	A	1: 20,140,712 (GRCm39)	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,846,690 (GRCm39)	S21P	possibly damaging	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Rack1	C	A	11: 48,696,463 (GRCm39)	A290E	probably damaging	Het
Rbm15	A	G	3: 107,239,570 (GRCm39)	V276A	probably benign	Het
Rnf216	A	T	5: 143,076,335 (GRCm39)	L183*	probably null	Het
Sc5d	T	C	9: 42,166,922 (GRCm39)	I206V	probably benign	Het
Scpep1	A	G	11: 88,826,737 (GRCm39)	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,257,132 (GRCm39)	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,254,384 (GRCm39)	V494G	probably damaging	Het
Slc38a7	T	C	8: 96,575,230 (GRCm39)	T17A	probably benign	Het
Smg6	T	C	11: 74,932,744 (GRCm39)	S73P	probably damaging	Het
Stk32b	T	C	5: 37,624,141 (GRCm39)	Y202C	probably damaging	Het
Tas2r140	A	G	6: 40,468,334 (GRCm39)	S55G	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Ttc3	T	C	16: 94,220,324 (GRCm39)	I568T	probably damaging	Het
Ttc3	G	C	16: 94,227,690 (GRCm39)		probably null	Het
Ttc41	T	G	10: 86,594,966 (GRCm39)	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,024,231 (GRCm39)	V236M	probably damaging	Het
Wscd1	C	T	11: 71,650,972 (GRCm39)	R100C	probably damaging	Het
Zc3h18	C	T	8: 123,128,445 (GRCm39)		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
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'- ACCTGAAGAGCTAGTCCCAG -3'
(R):5'- GCCAGTTTACTGAGGAAGTCG -3'

Sequencing Primer
(F):5'- CTGAAGAGCTAGTCCCAGATGTTC -3'
(R):5'- ACTGAGGAAGTCGTTTCTCTC -3'

Posted On

2016-03-17