Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Kcnq4'

562083

Institutional Source

Beutler Lab

Gene Symbol

Kcnq4

Ensembl Gene

ENSMUSG00000028631

Gene Name

potassium voltage-gated channel, subfamily Q, member 4

Synonyms

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R7225 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

120696138-120748612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120746914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

Ref Sequence

ENSEMBL: ENSMUSP00000030376 (fasta)

Gene Model

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

AlphaFold

Q9JK97

Predicted Effect

probably benign
Transcript: ENSMUST00000030376
AA Change: V88A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: V88A

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	Het

Other mutations in Kcnq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00225:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00228:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00310:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00330:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00333:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00335:Kcnq4	APN	4	120698016	nonsense	probably null
IGL00336:Kcnq4	APN	4	120698016	nonsense	probably null
IGL01143:Kcnq4	APN	4	120698623	missense	probably damaging	1.00
IGL01373:Kcnq4	APN	4	120717032	missense	probably damaging	1.00
IGL02095:Kcnq4	APN	4	120700027	splice site	probably benign
IGL02335:Kcnq4	APN	4	120715854	missense	probably damaging	1.00
IGL03188:Kcnq4	APN	4	120704426	missense	possibly damaging	0.81
R0045:Kcnq4	UTSW	4	120697955	missense	probably damaging	0.99
R0045:Kcnq4	UTSW	4	120697955	missense	probably damaging	0.99
R0423:Kcnq4	UTSW	4	120717508	missense	probably damaging	1.00
R0483:Kcnq4	UTSW	4	120716601	missense	probably damaging	1.00
R0837:Kcnq4	UTSW	4	120746861	missense	probably benign	0.00
R1722:Kcnq4	UTSW	4	120702427	missense	probably benign	0.00
R1826:Kcnq4	UTSW	4	120704504	missense	probably benign	0.00
R2059:Kcnq4	UTSW	4	120698002	missense	probably benign	0.00
R4327:Kcnq4	UTSW	4	120711364	missense	probably benign	0.00
R4690:Kcnq4	UTSW	4	120717011	missense	probably damaging	0.99
R4706:Kcnq4	UTSW	4	120704486	missense	probably benign
R4729:Kcnq4	UTSW	4	120713074	missense	possibly damaging	0.47
R4806:Kcnq4	UTSW	4	120713094	missense	probably damaging	1.00
R4859:Kcnq4	UTSW	4	120716613	missense	probably damaging	1.00
R4885:Kcnq4	UTSW	4	120713063	missense	probably benign	0.01
R5073:Kcnq4	UTSW	4	120717517	missense	probably damaging	1.00
R5517:Kcnq4	UTSW	4	120715809	missense	possibly damaging	0.66
R5590:Kcnq4	UTSW	4	120715885	missense	probably damaging	0.98
R5653:Kcnq4	UTSW	4	120702411	missense	probably benign	0.00
R5750:Kcnq4	UTSW	4	120715049	missense	probably damaging	1.00
R6141:Kcnq4	UTSW	4	120715869	missense	probably damaging	1.00
R6160:Kcnq4	UTSW	4	120716559	missense	probably damaging	1.00
R7087:Kcnq4	UTSW	4	120704399	missense	probably damaging	0.96
R7088:Kcnq4	UTSW	4	120704399	missense	probably damaging	0.96
R7143:Kcnq4	UTSW	4	120711239	missense	probably benign	0.05
R7479:Kcnq4	UTSW	4	120715825	missense	probably damaging	0.98
R7574:Kcnq4	UTSW	4	120711368	missense	probably benign
R7879:Kcnq4	UTSW	4	120702435	missense	probably benign	0.13
R7980:Kcnq4	UTSW	4	120711297	missense	probably benign	0.02
R9007:Kcnq4	UTSW	4	120697953	missense	probably benign	0.01
R9421:Kcnq4	UTSW	4	120716671	missense	possibly damaging	0.48
R9468:Kcnq4	UTSW	4	120711297	missense	probably benign	0.02
R9774:Kcnq4	UTSW	4	120715879	missense	probably damaging	0.99
X0020:Kcnq4	UTSW	4	120715327	missense	probably damaging	1.00
Z1176:Kcnq4	UTSW	4	120698497	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAACTGAGTGAGGGTCTGCC -3'
(R):5'- TCGAGCCATGCGACTCTGAG -3'

Sequencing Primer
(F):5'- CCCCGGGGCAATAGGATAG -3'
(R):5'- AGTTGGTGGCGCTCACG -3'

Posted On

2019-06-26