Incidental Mutation 'R3114:Sik1'
ID |
263951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sik1
|
Ensembl Gene |
ENSMUSG00000024042 |
Gene Name |
salt inducible kinase 1 |
Synonyms |
Snf1lk, Msk |
MMRRC Submission |
040587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32063224-32074778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32067106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 505
(T505A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024839]
|
AlphaFold |
Q60670 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024839
AA Change: T505A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000024839 Gene: ENSMUSG00000024042 AA Change: T505A
Domain | Start | End | E-Value | Type |
S_TKc
|
27 |
278 |
3.38e-103 |
SMART |
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
low complexity region
|
651 |
667 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0635 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele and fed a high fat diet exhibit increased insulin sensitivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
Other mutations in Sik1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4131001:Sik1
|
UTSW |
17 |
32,070,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Sik1
|
UTSW |
17 |
32,066,249 (GRCm39) |
splice site |
probably benign |
|
R0371:Sik1
|
UTSW |
17 |
32,067,958 (GRCm39) |
missense |
probably benign |
0.10 |
R0452:Sik1
|
UTSW |
17 |
32,068,055 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0465:Sik1
|
UTSW |
17 |
32,073,996 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1274:Sik1
|
UTSW |
17 |
32,065,549 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2057:Sik1
|
UTSW |
17 |
32,067,771 (GRCm39) |
missense |
probably benign |
0.00 |
R2058:Sik1
|
UTSW |
17 |
32,067,771 (GRCm39) |
missense |
probably benign |
0.00 |
R2059:Sik1
|
UTSW |
17 |
32,067,771 (GRCm39) |
missense |
probably benign |
0.00 |
R2367:Sik1
|
UTSW |
17 |
32,065,271 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4629:Sik1
|
UTSW |
17 |
32,068,581 (GRCm39) |
missense |
probably benign |
0.10 |
R5638:Sik1
|
UTSW |
17 |
32,069,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Sik1
|
UTSW |
17 |
32,069,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R6149:Sik1
|
UTSW |
17 |
32,067,771 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6303:Sik1
|
UTSW |
17 |
32,065,270 (GRCm39) |
missense |
probably damaging |
0.97 |
R6853:Sik1
|
UTSW |
17 |
32,073,180 (GRCm39) |
critical splice donor site |
probably null |
|
R7170:Sik1
|
UTSW |
17 |
32,067,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7225:Sik1
|
UTSW |
17 |
32,073,274 (GRCm39) |
missense |
probably benign |
0.00 |
R7893:Sik1
|
UTSW |
17 |
32,069,020 (GRCm39) |
missense |
probably benign |
0.00 |
R8217:Sik1
|
UTSW |
17 |
32,070,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R8912:Sik1
|
UTSW |
17 |
32,069,919 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9017:Sik1
|
UTSW |
17 |
32,070,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R9166:Sik1
|
UTSW |
17 |
32,069,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Sik1
|
UTSW |
17 |
32,066,167 (GRCm39) |
missense |
probably benign |
0.24 |
R9610:Sik1
|
UTSW |
17 |
32,073,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Sik1
|
UTSW |
17 |
32,073,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGAGGTATCAGACGCTCTC -3'
(R):5'- GCTCTGGTGGCCTAGATTAAG -3'
Sequencing Primer
(F):5'- AGGTAAGACGGCTGTGCC -3'
(R):5'- GTTTAAGTTGGGGAATACCATACCC -3'
|
Posted On |
2015-02-05 |