Incidental Mutation 'R4403:Kcnk15'
| ID |
326717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk15
|
| Ensembl Gene |
ENSMUSG00000035238 |
| Gene Name |
potassium channel, subfamily K, member 15 |
| Synonyms |
KCNK11, KT3.3, TASK5, KCNK14 |
| MMRRC Submission |
041687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R4403 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163695670-163700794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163700538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 259
(N259S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044734]
[ENSMUST00000044798]
[ENSMUST00000109396]
|
| AlphaFold |
B2RVL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044734
|
| SMART Domains |
Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
129 |
232 |
1.42e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044798
AA Change: N259S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048326
Gene: ENSMUSG00000035238
AA Change: N259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_2
|
78 |
153 |
1.2e-20 |
PFAM |
|
Pfam:Ion_trans_2
|
184 |
267 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109396
AA Change: N240S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105023
Gene: ENSMUSG00000035238
AA Change: N240S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_2
|
62 |
134 |
5.2e-21 |
PFAM |
|
Pfam:Ion_trans_2
|
165 |
248 |
1.6e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.3584 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,595 (GRCm39) |
Y2037C |
probably damaging |
Het |
| Adam33 |
T |
C |
2: 130,895,190 (GRCm39) |
T647A |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,836,845 (GRCm39) |
A636T |
probably damaging |
Het |
| Aldh3b2 |
A |
T |
19: 4,030,059 (GRCm39) |
I348F |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,704,906 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,081,306 (GRCm39) |
R1361G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cbr2 |
T |
A |
11: 120,621,628 (GRCm39) |
N83I |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,176,117 (GRCm39) |
N561S |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,923,460 (GRCm39) |
L690Q |
probably damaging |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,337,025 (GRCm39) |
S470P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,856,169 (GRCm39) |
Y3871C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,645,561 (GRCm39) |
E73G |
possibly damaging |
Het |
| Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 899,830 (GRCm39) |
R132L |
probably damaging |
Het |
| Med21 |
C |
T |
6: 146,550,680 (GRCm39) |
R64* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,755,768 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp4e |
T |
A |
7: 23,020,888 (GRCm39) |
C458* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,959,919 (GRCm39) |
Q3525R |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,767,078 (GRCm39) |
D99E |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,490 (GRCm39) |
L1823S |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Prmt3 |
T |
A |
7: 49,430,105 (GRCm39) |
H69Q |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,804,212 (GRCm39) |
|
probably null |
Het |
| Rhoa |
T |
A |
9: 108,214,013 (GRCm39) |
I192N |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,178,157 (GRCm39) |
I1532V |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,624,733 (GRCm39) |
T530A |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,137 (GRCm39) |
F39L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,206 (GRCm39) |
M134K |
probably damaging |
Het |
|
| Other mutations in Kcnk15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0389:Kcnk15
|
UTSW |
2 |
163,700,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0443:Kcnk15
|
UTSW |
2 |
163,700,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Kcnk15
|
UTSW |
2 |
163,700,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Kcnk15
|
UTSW |
2 |
163,700,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Kcnk15
|
UTSW |
2 |
163,695,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3732:Kcnk15
|
UTSW |
2 |
163,695,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7090:Kcnk15
|
UTSW |
2 |
163,700,637 (GRCm39) |
missense |
probably benign |
|
|
R7588:Kcnk15
|
UTSW |
2 |
163,700,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Kcnk15
|
UTSW |
2 |
163,700,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Kcnk15
|
UTSW |
2 |
163,700,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Kcnk15
|
UTSW |
2 |
163,700,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9184:Kcnk15
|
UTSW |
2 |
163,700,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9589:Kcnk15
|
UTSW |
2 |
163,700,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGCTGAGAACATGGTGG -3'
(R):5'- GCAATGATGCGTGGCTTCTG -3'
Sequencing Primer
(F):5'- AGGTGCCATTGCCTTCG -3'
(R):5'- CGTGGCTTCTGGGCTCAAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation