Incidental Mutation 'R5517:Kcnq4'
| ID |
431336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq4
|
| Ensembl Gene |
ENSMUSG00000028631 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 4 |
| Synonyms |
|
| MMRRC Submission |
043076-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.434)
|
| Stock # |
R5517 (G1)
|
| Quality Score |
120 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120553331-120604687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120573006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 265
(N265S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030376]
|
| AlphaFold |
Q9JK97 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030376
AA Change: N265S
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: N265S
| 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 |
0.2466 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
| Validation Efficiency |
99% (67/68) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
| Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
| Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
| Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
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 |
|
|
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 |
|
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'- ACAGCCTTAGTGTGAAGAGAC -3'
(R):5'- CTGCCATGATTAAGGGCAGG -3'
Sequencing Primer
(F):5'- CCTTAGTGTGAAGAGACAAGGAC -3'
(R):5'- CATGATTAAGGGCAGGCCTGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation