Incidental Mutation 'R5098:Sik2'
| ID |
388131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik2
|
| Ensembl Gene |
ENSMUSG00000037112 |
| Gene Name |
salt inducible kinase 2 |
| Synonyms |
G630080D20Rik, Snf1lk2 |
| MMRRC Submission |
042687-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.719)
|
| Stock # |
R5098 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50804101-50920373 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 50906891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041375]
[ENSMUST00000176491]
[ENSMUST00000176663]
[ENSMUST00000176824]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041375
|
| SMART Domains |
Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176491
|
| SMART Domains |
Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176663
|
| SMART Domains |
Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176824
|
| SMART Domains |
Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177346
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit darkened hair color in an agouti background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,847,944 (GRCm39) |
I784V |
probably benign |
Het |
| Agxt |
A |
G |
1: 93,065,029 (GRCm39) |
H146R |
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,177 (GRCm39) |
F201L |
probably damaging |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,432 (GRCm39) |
M7K |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,660,917 (GRCm39) |
A1030V |
probably benign |
Het |
| Ccdc66 |
G |
A |
14: 27,220,750 (GRCm39) |
T58M |
probably damaging |
Het |
| Cd72 |
C |
T |
4: 43,452,610 (GRCm39) |
G74R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,113 (GRCm39) |
K749R |
probably damaging |
Het |
| Commd3 |
A |
T |
2: 18,678,988 (GRCm39) |
T102S |
possibly damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,304 (GRCm39) |
T270A |
possibly damaging |
Het |
| Dclre1b |
A |
G |
3: 103,716,452 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,061,459 (GRCm39) |
D380E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,585,999 (GRCm39) |
E674G |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,640,101 (GRCm39) |
S128P |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,048 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
T |
C |
14: 49,286,304 (GRCm39) |
T108A |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,438 (GRCm39) |
S444P |
probably benign |
Het |
| Gm3327 |
A |
T |
14: 44,362,292 (GRCm39) |
I64F |
unknown |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr15 |
T |
A |
16: 58,538,890 (GRCm39) |
R66S |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,654,018 (GRCm39) |
S102P |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,669,083 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,467 (GRCm39) |
Y279C |
probably damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,816 (GRCm39) |
C22F |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,115,185 (GRCm39) |
D817V |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,381,926 (GRCm39) |
D588G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t6 |
A |
G |
14: 14,175,683 (GRCm38) |
V133A |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,420,976 (GRCm39) |
I31V |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,858 (GRCm39) |
D128G |
probably damaging |
Het |
| Pgap6 |
A |
T |
17: 26,337,902 (GRCm39) |
N429Y |
probably damaging |
Het |
| Ppil6 |
A |
G |
10: 41,366,616 (GRCm39) |
E47G |
probably null |
Het |
| Rad17 |
A |
T |
13: 100,754,154 (GRCm39) |
*689K |
probably null |
Het |
| Scin |
A |
T |
12: 40,127,541 (GRCm39) |
Y416* |
probably null |
Het |
| Serf1 |
A |
G |
13: 100,245,575 (GRCm39) |
T18A |
probably benign |
Het |
| Slc39a8 |
C |
A |
3: 135,563,918 (GRCm39) |
N254K |
probably benign |
Het |
| Spint3 |
A |
G |
2: 164,411,821 (GRCm39) |
F63L |
probably damaging |
Het |
| Suox |
A |
T |
10: 128,507,027 (GRCm39) |
S334T |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,228 (GRCm39) |
M265V |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,118,850 (GRCm39) |
L146P |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,047 (GRCm39) |
D330E |
probably benign |
Het |
| Ugt2a2 |
T |
C |
5: 87,612,040 (GRCm39) |
E290G |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,812 (GRCm39) |
T352S |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,930 (GRCm39) |
V249A |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,113,608 (GRCm39) |
D200G |
probably damaging |
Het |
| Zfp652 |
T |
C |
11: 95,643,762 (GRCm39) |
V140A |
probably damaging |
Het |
|
| Other mutations in Sik2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Sik2
|
APN |
9 |
50,818,763 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01552:Sik2
|
APN |
9 |
50,828,822 (GRCm39) |
splice site |
probably benign |
|
|
IGL02175:Sik2
|
APN |
9 |
50,806,909 (GRCm39) |
nonsense |
probably null |
|
|
IGL02355:Sik2
|
APN |
9 |
50,828,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL02362:Sik2
|
APN |
9 |
50,828,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL03197:Sik2
|
APN |
9 |
50,807,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Sik2
|
UTSW |
9 |
50,909,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0066:Sik2
|
UTSW |
9 |
50,909,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0109:Sik2
|
UTSW |
9 |
50,810,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0109:Sik2
|
UTSW |
9 |
50,810,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0416:Sik2
|
UTSW |
9 |
50,906,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Sik2
|
UTSW |
9 |
50,810,045 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0714:Sik2
|
UTSW |
9 |
50,818,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1472:Sik2
|
UTSW |
9 |
50,920,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Sik2
|
UTSW |
9 |
50,906,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Sik2
|
UTSW |
9 |
50,906,974 (GRCm39) |
splice site |
probably benign |
|
|
R2032:Sik2
|
UTSW |
9 |
50,906,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Sik2
|
UTSW |
9 |
50,818,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2853:Sik2
|
UTSW |
9 |
50,809,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Sik2
|
UTSW |
9 |
50,846,685 (GRCm39) |
intron |
probably benign |
|
|
R4567:Sik2
|
UTSW |
9 |
50,909,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Sik2
|
UTSW |
9 |
50,810,703 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5640:Sik2
|
UTSW |
9 |
50,826,806 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5682:Sik2
|
UTSW |
9 |
50,828,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Sik2
|
UTSW |
9 |
50,807,145 (GRCm39) |
missense |
probably benign |
|
|
R5935:Sik2
|
UTSW |
9 |
50,828,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Sik2
|
UTSW |
9 |
50,806,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6664:Sik2
|
UTSW |
9 |
50,846,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Sik2
|
UTSW |
9 |
50,909,834 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6980:Sik2
|
UTSW |
9 |
50,808,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7057:Sik2
|
UTSW |
9 |
50,909,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Sik2
|
UTSW |
9 |
50,818,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7165:Sik2
|
UTSW |
9 |
50,828,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Sik2
|
UTSW |
9 |
50,920,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8252:Sik2
|
UTSW |
9 |
50,828,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8893:Sik2
|
UTSW |
9 |
50,810,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Sik2
|
UTSW |
9 |
50,806,647 (GRCm39) |
missense |
probably benign |
|
|
R9747:Sik2
|
UTSW |
9 |
50,810,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9753:Sik2
|
UTSW |
9 |
50,807,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGCAAGTTTCTCCCTATC -3'
(R):5'- AGGATCCACGAGTGTATACCAAAG -3'
Sequencing Primer
(F):5'- GCTATCTAGTCTCTAATGCAAGTAAG -3'
(R):5'- CGAGTGTATACCAAAGCTTGTAAATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation