Incidental Mutation 'IGL02153:Kcnq3'
ID |
282102 |
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: 0.091)
|
Stock # |
IGL02153
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65897040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 287
(V287L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
AlphaFold |
Q8K3F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: V287L
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063380 Gene: ENSMUSG00000056258 AA Change: V287L
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: ENSMUST00000183354
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
C |
2: 152,283,161 (GRCm39) |
I275T |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,683,122 (GRCm39) |
K521* |
probably null |
Het |
Csn3 |
A |
T |
5: 88,077,956 (GRCm39) |
N154I |
possibly damaging |
Het |
Dock2 |
A |
G |
11: 34,180,670 (GRCm39) |
S1716P |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,846,304 (GRCm39) |
S18T |
probably benign |
Het |
Esrra |
G |
A |
19: 6,891,190 (GRCm39) |
T190I |
probably benign |
Het |
F13b |
T |
C |
1: 139,444,115 (GRCm39) |
I483T |
probably damaging |
Het |
Foxb1 |
T |
A |
9: 69,666,985 (GRCm39) |
M182L |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,809,065 (GRCm39) |
F1795L |
probably benign |
Het |
Gkn2 |
G |
A |
6: 87,350,390 (GRCm39) |
|
probably null |
Het |
Gm8439 |
G |
A |
4: 120,466,787 (GRCm39) |
A93T |
unknown |
Het |
Ift22 |
T |
C |
5: 136,940,550 (GRCm39) |
S72P |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,232,993 (GRCm39) |
K24E |
probably damaging |
Het |
Lrriq1 |
T |
A |
10: 103,006,340 (GRCm39) |
M1262L |
probably benign |
Het |
Mb21d2 |
A |
G |
16: 28,748,240 (GRCm39) |
I59T |
probably benign |
Het |
Mogat2 |
A |
T |
7: 98,872,761 (GRCm39) |
M141K |
possibly damaging |
Het |
Mtdh |
C |
T |
15: 34,131,396 (GRCm39) |
L409F |
possibly damaging |
Het |
Muc5ac |
C |
T |
7: 141,372,537 (GRCm39) |
Q2724* |
probably null |
Het |
Myo15a |
T |
G |
11: 60,389,223 (GRCm39) |
L2040R |
probably damaging |
Het |
Nodal |
C |
T |
10: 61,260,324 (GRCm39) |
T325I |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,215,674 (GRCm39) |
T1194S |
probably damaging |
Het |
Pcdhb13 |
A |
C |
18: 37,576,738 (GRCm39) |
D372A |
probably damaging |
Het |
Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
Pigr |
T |
A |
1: 130,776,793 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,229,773 (GRCm39) |
I1131T |
probably benign |
Het |
Plch1 |
T |
A |
3: 63,688,772 (GRCm39) |
D132V |
probably damaging |
Het |
Plxnb2 |
C |
A |
15: 89,050,016 (GRCm39) |
E502* |
probably null |
Het |
Prox2 |
T |
C |
12: 85,134,703 (GRCm39) |
N526S |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,519,280 (GRCm39) |
|
probably null |
Het |
Rxfp1 |
C |
T |
3: 79,567,427 (GRCm39) |
E308K |
probably benign |
Het |
Sgca |
T |
C |
11: 94,854,110 (GRCm39) |
T120A |
probably damaging |
Het |
Sh3tc1 |
G |
A |
5: 35,860,696 (GRCm39) |
R1054W |
probably damaging |
Het |
Smarcal1 |
C |
T |
1: 72,672,214 (GRCm39) |
|
probably benign |
Het |
Spata45 |
T |
A |
1: 190,771,958 (GRCm39) |
M60K |
probably benign |
Het |
St8sia6 |
T |
C |
2: 13,661,716 (GRCm39) |
M372V |
probably damaging |
Het |
Tas2r126 |
T |
G |
6: 42,411,598 (GRCm39) |
S44A |
probably benign |
Het |
Tcea3 |
T |
A |
4: 136,000,945 (GRCm39) |
|
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,668,949 (GRCm39) |
E1157G |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,546,857 (GRCm39) |
I840V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,728,685 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,187,471 (GRCm39) |
Y3846* |
probably null |
Het |
Usp47 |
G |
A |
7: 111,703,256 (GRCm39) |
D1171N |
probably benign |
Het |
Vmn2r114 |
G |
A |
17: 23,510,782 (GRCm39) |
T566I |
probably benign |
Het |
Wdr35 |
G |
A |
12: 9,058,535 (GRCm39) |
R575Q |
probably null |
Het |
Xkr5 |
A |
T |
8: 18,983,683 (GRCm39) |
C454S |
probably benign |
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 |
IGL02950:Kcnq3
|
APN |
15 |
65,892,142 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02963:Kcnq3
|
APN |
15 |
66,157,675 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |