Incidental Mutation 'R3036:Kcnk18'
| ID |
263378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk18
|
| Ensembl Gene |
ENSMUSG00000040901 |
| Gene Name |
potassium channel, subfamily K, member 18 |
| Synonyms |
Tresk, Tresk-2, LOC332396 |
| MMRRC Submission |
040552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3036 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
59208080-59225802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59223494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 213
(V213D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065204]
|
| AlphaFold |
Q6VV64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065204
AA Change: V213D
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: V213D
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg10 |
A |
G |
13: 91,189,017 (GRCm39) |
S98P |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,697,182 (GRCm39) |
Y189H |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,258 (GRCm39) |
I143V |
possibly damaging |
Het |
| Gpr108 |
A |
G |
17: 57,552,323 (GRCm39) |
V90A |
probably benign |
Het |
| Ly6f |
T |
C |
15: 75,140,636 (GRCm39) |
C20R |
probably damaging |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,750,013 (GRCm39) |
C4399R |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,346,059 (GRCm39) |
T274A |
probably benign |
Het |
| Nol11 |
A |
G |
11: 107,064,070 (GRCm39) |
S561P |
possibly damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,225 (GRCm39) |
S155P |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Sumf1 |
G |
A |
6: 108,130,152 (GRCm39) |
A214V |
possibly damaging |
Het |
| Teddm1a |
A |
G |
1: 153,767,656 (GRCm39) |
Y40C |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,167 (GRCm39) |
G496S |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,730,960 (GRCm39) |
|
probably benign |
Het |
| Uty |
G |
A |
Y: 1,099,671 (GRCm39) |
R1112* |
probably null |
Het |
|
| Other mutations in Kcnk18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Kcnk18
|
APN |
19 |
59,223,502 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATCCCTCTAATGTTCCTGG -3'
(R):5'- GCCCACTTCATCCAGATTGC -3'
Sequencing Primer
(F):5'- AATGTTCCTGGTCCTCACAGACATAG -3'
(R):5'- CACTTCATCCAGATTGCTGAGAATAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation