Incidental Mutation 'IGL00339:Kcnk18'
| ID |
3149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnk18
|
| Ensembl Gene |
ENSMUSG00000040901 |
| Gene Name |
potassium channel, subfamily K, member 18 |
| Synonyms |
Tresk, Tresk-2, LOC332396 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
59208080-59225802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59223502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 216
(A216S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065204]
|
| AlphaFold |
Q6VV64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065204
AA Change: A216S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: A216S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
99 |
168 |
1e-21 |
PFAM |
|
Pfam:Ion_trans_2
|
298 |
376 |
1.4e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Kcnk18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01460:Kcnk18
|
APN |
19 |
59,208,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02054:Kcnk18
|
APN |
19 |
59,224,045 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02304:Kcnk18
|
APN |
19 |
59,223,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Kcnk18
|
APN |
19 |
59,223,614 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02527:Kcnk18
|
APN |
19 |
59,223,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03033:Kcnk18
|
APN |
19 |
59,223,616 (GRCm39) |
missense |
probably benign |
0.21 |
|
cedar
|
UTSW |
19 |
59,223,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Kcnk18
|
UTSW |
19 |
59,223,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1775:Kcnk18
|
UTSW |
19 |
59,223,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Kcnk18
|
UTSW |
19 |
59,223,490 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2278:Kcnk18
|
UTSW |
19 |
59,223,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3036:Kcnk18
|
UTSW |
19 |
59,223,494 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4478:Kcnk18
|
UTSW |
19 |
59,223,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Kcnk18
|
UTSW |
19 |
59,223,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Kcnk18
|
UTSW |
19 |
59,208,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5393:Kcnk18
|
UTSW |
19 |
59,208,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Kcnk18
|
UTSW |
19 |
59,223,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6145:Kcnk18
|
UTSW |
19 |
59,224,039 (GRCm39) |
makesense |
probably null |
|
|
R6881:Kcnk18
|
UTSW |
19 |
59,208,390 (GRCm39) |
missense |
probably benign |
|
|
R9641:Kcnk18
|
UTSW |
19 |
59,223,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kcnk18
|
UTSW |
19 |
59,223,391 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1177:Kcnk18
|
UTSW |
19 |
59,213,911 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation