Incidental Mutation 'R2367:Sik1'
| ID |
246391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik1
|
| Ensembl Gene |
ENSMUSG00000024042 |
| Gene Name |
salt inducible kinase 1 |
| Synonyms |
Snf1lk, Msk |
| MMRRC Submission |
040348-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2367 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32063224-32074778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32065271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 776
(V776I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024839]
|
| AlphaFold |
Q60670 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024839
AA Change: V776I
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024839
Gene: ENSMUSG00000024042
AA Change: V776I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
T |
C |
16: 22,974,069 (GRCm39) |
V32A |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,885,813 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,414 (GRCm39) |
V296F |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,499 (GRCm39) |
V182A |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,821 (GRCm39) |
R279W |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,002,956 (GRCm39) |
M552L |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,668,524 (GRCm39) |
G108S |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,448,605 (GRCm39) |
L422Q |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,213 (GRCm39) |
R136L |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,347 (GRCm39) |
W129* |
probably null |
Het |
| Ms4a3 |
G |
A |
19: 11,607,108 (GRCm39) |
P186S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,408,064 (GRCm39) |
M3184K |
probably damaging |
Het |
| Olig2 |
G |
A |
16: 91,023,454 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,981 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,281,985 (GRCm39) |
|
probably null |
Het |
| Phgdh |
C |
G |
3: 98,221,612 (GRCm39) |
G440A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,158,023 (GRCm39) |
Q450R |
probably damaging |
Het |
| Sema4d |
CGGGG |
CGGGGGGG |
13: 51,857,176 (GRCm39) |
|
probably benign |
Het |
| Slc25a39 |
T |
A |
11: 102,294,477 (GRCm39) |
T316S |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,087 (GRCm39) |
E578K |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,446 (GRCm39) |
I276K |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,036 (GRCm39) |
T610A |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 94,007,583 (GRCm39) |
S1090N |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,309,479 (GRCm39) |
V277A |
probably damaging |
Het |
| Traf3ip1 |
T |
G |
1: 91,435,242 (GRCm39) |
S314A |
possibly damaging |
Het |
| Tril |
T |
A |
6: 53,796,151 (GRCm39) |
D357V |
probably damaging |
Het |
| Tube1 |
T |
C |
10: 39,020,915 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,416 (GRCm39) |
I27V |
probably benign |
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 |
|
R3114:Sik1
|
UTSW |
17 |
32,067,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CAAACGTATTGCTTGTTTCACG -3'
(R):5'- TGGAATTCCACTGCTGCCAAC -3'
Sequencing Primer
(F):5'- TCACGTCTAGAAAGTTCTTGGC -3'
(R):5'- TCTCCAGGCTGGCATGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation