Incidental Mutation 'R1873:Kcnq3'
ID |
210974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnq3
|
Ensembl Gene |
ENSMUSG00000056258 |
Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
Synonyms |
|
MMRRC Submission |
039895-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R1873 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65874104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 548
(I548T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
AlphaFold |
Q8K3F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070256
AA Change: I548T
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000063380 Gene: ENSMUSG00000056258 AA Change: I548T
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 |
|
Meta Mutation Damage Score |
0.6943 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
98% (82/84) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,870,781 (GRCm39) |
I124L |
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Adam34 |
A |
C |
8: 44,104,843 (GRCm39) |
N267K |
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,503,551 (GRCm39) |
D301G |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,536,886 (GRCm39) |
D40Y |
probably damaging |
Het |
Cacna2d2 |
T |
G |
9: 107,391,071 (GRCm39) |
M400R |
probably damaging |
Het |
Cd96 |
C |
A |
16: 45,938,335 (GRCm39) |
L43F |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,871,560 (GRCm39) |
E104G |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
Cfhr4 |
C |
T |
1: 139,702,398 (GRCm39) |
E29K |
probably damaging |
Het |
Chil4 |
C |
T |
3: 106,113,414 (GRCm39) |
E168K |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,452,590 (GRCm39) |
V631A |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,552,902 (GRCm39) |
A649V |
possibly damaging |
Het |
Commd9 |
A |
G |
2: 101,727,502 (GRCm39) |
T99A |
probably benign |
Het |
Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
Cyth3 |
T |
A |
5: 143,683,516 (GRCm39) |
H138Q |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,652,303 (GRCm39) |
V1135A |
probably benign |
Het |
Glcci1 |
C |
A |
6: 8,537,837 (GRCm39) |
H152N |
probably benign |
Het |
Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
Gnrhr |
A |
G |
5: 86,330,060 (GRCm39) |
L320P |
probably damaging |
Het |
Gorasp1 |
A |
T |
9: 119,759,306 (GRCm39) |
S138T |
probably benign |
Het |
Hars1 |
C |
A |
18: 36,900,294 (GRCm39) |
Q469H |
probably damaging |
Het |
Homer2 |
T |
C |
7: 81,286,111 (GRCm39) |
K34E |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,978,823 (GRCm39) |
I198V |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,567,057 (GRCm39) |
S39P |
probably damaging |
Het |
Kcnk12 |
G |
T |
17: 88,053,499 (GRCm39) |
Q388K |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,261,880 (GRCm39) |
Y351H |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,952 (GRCm39) |
I678F |
probably damaging |
Het |
Mc4r |
A |
T |
18: 66,992,531 (GRCm39) |
I194N |
probably damaging |
Het |
Ms4a6d |
A |
G |
19: 11,579,223 (GRCm39) |
S85P |
probably damaging |
Het |
Myh4 |
T |
A |
11: 67,145,569 (GRCm39) |
Y1351N |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,322,789 (GRCm39) |
D73G |
probably damaging |
Het |
Mzt1 |
C |
T |
14: 99,278,097 (GRCm39) |
|
probably null |
Het |
Nalcn |
G |
A |
14: 123,521,013 (GRCm39) |
H1631Y |
probably benign |
Het |
Ncf2 |
A |
G |
1: 152,701,661 (GRCm39) |
N213S |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,437,987 (GRCm39) |
T99K |
probably damaging |
Het |
Nsf |
T |
C |
11: 103,749,843 (GRCm39) |
S547G |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,112,587 (GRCm39) |
I190F |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
Ogdh |
A |
T |
11: 6,290,438 (GRCm39) |
|
probably benign |
Het |
Or2ag12 |
T |
A |
7: 106,277,691 (GRCm39) |
M1L |
probably damaging |
Het |
Or5b12 |
C |
T |
19: 12,896,852 (GRCm39) |
V274M |
probably damaging |
Het |
Otog |
G |
A |
7: 45,918,767 (GRCm39) |
V948I |
probably damaging |
Het |
Plekhm1 |
T |
C |
11: 103,264,824 (GRCm39) |
D880G |
probably benign |
Het |
Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
Polg |
A |
G |
7: 79,106,241 (GRCm39) |
L678S |
probably benign |
Het |
Ptprm |
C |
T |
17: 66,995,350 (GRCm39) |
V1293I |
probably damaging |
Het |
Pwwp3a |
T |
A |
10: 80,068,442 (GRCm39) |
D195E |
possibly damaging |
Het |
Rhou |
A |
T |
8: 124,387,990 (GRCm39) |
R241W |
probably damaging |
Het |
Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,621,276 (GRCm39) |
|
probably benign |
Het |
Sost |
T |
C |
11: 101,855,069 (GRCm39) |
E80G |
probably damaging |
Het |
Spag16 |
C |
T |
1: 69,935,744 (GRCm39) |
|
probably benign |
Het |
Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
Taf1b |
T |
A |
12: 24,606,668 (GRCm39) |
L496Q |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,173,786 (GRCm39) |
I976T |
probably damaging |
Het |
Tex14 |
T |
A |
11: 87,390,431 (GRCm39) |
V376D |
probably damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,873,680 (GRCm39) |
D606G |
probably damaging |
Het |
Tmc2 |
A |
C |
2: 130,090,676 (GRCm39) |
N674T |
possibly damaging |
Het |
Top3a |
C |
A |
11: 60,638,810 (GRCm39) |
E562* |
probably null |
Het |
Umodl1 |
A |
T |
17: 31,201,238 (GRCm39) |
D389V |
probably damaging |
Het |
Uso1 |
T |
C |
5: 92,340,718 (GRCm39) |
|
probably benign |
Het |
Vmn1r205 |
A |
G |
13: 22,776,223 (GRCm39) |
V293A |
possibly damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,565,840 (GRCm39) |
T52A |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,298,479 (GRCm39) |
V461I |
possibly damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,582,415 (GRCm39) |
I7F |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,271,233 (GRCm39) |
F80S |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,940,647 (GRCm39) |
S258G |
probably benign |
Het |
Zbtb24 |
A |
G |
10: 41,327,123 (GRCm39) |
D3G |
probably benign |
Het |
Zc3hav1 |
C |
T |
6: 38,309,692 (GRCm39) |
V377I |
possibly damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAATGTGTCCTCCTGTTTGTGAAG -3'
(R):5'- AAGGCCAGCATTCTGCCATC -3'
Sequencing Primer
(F):5'- GAAGTTTCTCTGCTGCATTTTGC -3'
(R):5'- CCATCCAGGCCTTCTCTTTATG -3'
|
Posted On |
2014-06-30 |