Incidental Mutation 'IGL02963:Kcnq3'
| ID |
365457 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 66157675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070256
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
122 |
364 |
9.9e-31 |
PFAM |
|
Pfam:Ion_trans_2
|
268 |
357 |
3.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
448 |
658 |
1.4e-89 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
771 |
867 |
3.8e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184211
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,922,489 (GRCm39) |
I348N |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
| Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
| Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
| Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
| Eif3c |
T |
C |
7: 126,155,992 (GRCm39) |
T493A |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
| Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,526 (GRCm39) |
T104A |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
| Lcat |
A |
T |
8: 106,666,588 (GRCm39) |
F311L |
probably damaging |
Het |
| Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
| Med25 |
T |
C |
7: 44,541,680 (GRCm39) |
K37E |
probably damaging |
Het |
| Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
| Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
| Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
| Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
| Rasa2 |
C |
A |
9: 96,452,838 (GRCm39) |
L349F |
probably damaging |
Het |
| Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
| Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
| Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
| Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
| Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
| Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
| Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
| Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
Het |
|
| Other mutations in Kcnq3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Kcnq3
|
APN |
15 |
65,867,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00808:Kcnq3
|
APN |
15 |
65,867,603 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00969:Kcnq3
|
APN |
15 |
65,876,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Kcnq3
|
APN |
15 |
65,877,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL01996:Kcnq3
|
APN |
15 |
65,895,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02153:Kcnq3
|
APN |
15 |
65,897,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02950:Kcnq3
|
APN |
15 |
65,892,142 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03102:Kcnq3
|
APN |
15 |
65,900,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03050:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0345:Kcnq3
|
UTSW |
15 |
65,892,154 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0388:Kcnq3
|
UTSW |
15 |
65,871,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0730:Kcnq3
|
UTSW |
15 |
65,867,457 (GRCm39) |
missense |
probably benign |
|
|
R1173:Kcnq3
|
UTSW |
15 |
65,871,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1610:Kcnq3
|
UTSW |
15 |
65,897,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Kcnq3
|
UTSW |
15 |
65,903,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Kcnq3
|
UTSW |
15 |
65,871,912 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1755:Kcnq3
|
UTSW |
15 |
65,867,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Kcnq3
|
UTSW |
15 |
65,877,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1873:Kcnq3
|
UTSW |
15 |
65,874,104 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1925:Kcnq3
|
UTSW |
15 |
65,876,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1970:Kcnq3
|
UTSW |
15 |
65,900,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2140:Kcnq3
|
UTSW |
15 |
65,877,827 (GRCm39) |
splice site |
probably benign |
|
|
R2141:Kcnq3
|
UTSW |
15 |
65,867,700 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2149:Kcnq3
|
UTSW |
15 |
65,895,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Kcnq3
|
UTSW |
15 |
65,892,142 (GRCm39) |
missense |
probably benign |
|
|
R2272:Kcnq3
|
UTSW |
15 |
65,900,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Kcnq3
|
UTSW |
15 |
65,903,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Kcnq3
|
UTSW |
15 |
65,897,085 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3703:Kcnq3
|
UTSW |
15 |
65,893,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3704:Kcnq3
|
UTSW |
15 |
65,893,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3899:Kcnq3
|
UTSW |
15 |
65,902,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4096:Kcnq3
|
UTSW |
15 |
66,157,664 (GRCm39) |
splice site |
probably null |
|
|
R4421:Kcnq3
|
UTSW |
15 |
65,867,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4504:Kcnq3
|
UTSW |
15 |
65,867,191 (GRCm39) |
nonsense |
probably null |
|
|
R4505:Kcnq3
|
UTSW |
15 |
65,867,191 (GRCm39) |
nonsense |
probably null |
|
|
R4571:Kcnq3
|
UTSW |
15 |
65,902,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Kcnq3
|
UTSW |
15 |
66,158,063 (GRCm39) |
missense |
unknown |
|
|
R4900:Kcnq3
|
UTSW |
15 |
65,867,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Kcnq3
|
UTSW |
15 |
65,903,254 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5015:Kcnq3
|
UTSW |
15 |
65,876,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Kcnq3
|
UTSW |
15 |
66,157,746 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5245:Kcnq3
|
UTSW |
15 |
65,903,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5334:Kcnq3
|
UTSW |
15 |
65,897,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5532:Kcnq3
|
UTSW |
15 |
65,869,622 (GRCm39) |
nonsense |
probably null |
|
|
R5630:Kcnq3
|
UTSW |
15 |
65,896,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Kcnq3
|
UTSW |
15 |
65,869,599 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5936:Kcnq3
|
UTSW |
15 |
65,871,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Kcnq3
|
UTSW |
15 |
65,876,643 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6576:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7006:Kcnq3
|
UTSW |
15 |
65,892,165 (GRCm39) |
nonsense |
probably null |
|
|
R7403:Kcnq3
|
UTSW |
15 |
65,874,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Kcnq3
|
UTSW |
15 |
65,867,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Kcnq3
|
UTSW |
15 |
65,867,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF045:Kcnq3
|
UTSW |
15 |
66,158,033 (GRCm39) |
small deletion |
probably benign |
|
|
X0060:Kcnq3
|
UTSW |
15 |
65,903,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnq3
|
UTSW |
15 |
65,867,301 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2015-12-18 |
Incidental Mutation