Incidental Mutation 'IGL01143:Kcnq4'
| ID |
50975 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnq4
|
| Ensembl Gene |
ENSMUSG00000028631 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.434)
|
| Stock # |
IGL01143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120553331-120604687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120555820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 585
(D585A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030376]
|
| AlphaFold |
Q9JK97 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030376
AA Change: D585A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: D585A
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
| Bmp7 |
G |
T |
2: 172,721,275 (GRCm39) |
H267N |
probably benign |
Het |
| Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
T |
A |
17: 56,370,336 (GRCm39) |
D600E |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,695,442 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
| Dync1li2 |
T |
C |
8: 105,156,085 (GRCm39) |
D252G |
probably damaging |
Het |
| Ephx2 |
C |
T |
14: 66,326,971 (GRCm39) |
R408Q |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
| Gal3st4 |
A |
G |
5: 138,269,664 (GRCm39) |
M1T |
probably null |
Het |
| Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
| Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
| Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
| Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
| Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
| Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
| Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
| Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
| Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation