Incidental Mutation 'R1274:Sik1'
| ID |
150851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik1
|
| Ensembl Gene |
ENSMUSG00000024042 |
| Gene Name |
salt inducible kinase 1 |
| Synonyms |
Snf1lk, Msk |
| MMRRC Submission |
039340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1274 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32063224-32074778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32065549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 683
(L683Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024839]
|
| AlphaFold |
Q60670 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024839
AA Change: L683Q
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024839
Gene: ENSMUSG00000024042
AA Change: L683Q
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
T |
C |
19: 56,902,995 (GRCm39) |
D728G |
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ceacam3 |
A |
G |
7: 16,897,064 (GRCm39) |
R677G |
probably damaging |
Het |
| Col16a1 |
T |
A |
4: 129,991,594 (GRCm39) |
M1431K |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Gm6563 |
A |
T |
19: 23,653,701 (GRCm39) |
I164F |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,313 (GRCm39) |
Y148C |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,254,178 (GRCm39) |
Y2325* |
probably null |
Het |
| Or10ak12 |
T |
C |
4: 118,666,593 (GRCm39) |
N156S |
probably benign |
Het |
| Or5d36 |
A |
C |
2: 87,900,939 (GRCm39) |
C262W |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,124,641 (GRCm39) |
T345A |
possibly damaging |
Het |
| Ptpn13 |
C |
T |
5: 103,698,126 (GRCm39) |
P1078S |
probably damaging |
Het |
| Rgs20 |
G |
A |
1: 4,982,670 (GRCm39) |
T166I |
probably damaging |
Het |
| Slc7a5 |
C |
T |
8: 122,610,453 (GRCm39) |
V454M |
probably benign |
Het |
| Snx30 |
A |
G |
4: 59,885,133 (GRCm39) |
T258A |
probably benign |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
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 |
|
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 |
|
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'- ACCCTCACTGTACCAGGACGAATG -3'
(R):5'- AGTTGCCACAACAGCCAGGATG -3'
Sequencing Primer
(F):5'- AGAGGTCAGGTCCTCCATC -3'
(R):5'- GAGCTATGTGAAATCCCATCTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation