Incidental Mutation 'R8893:Sik2'
| ID |
677840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik2
|
| Ensembl Gene |
ENSMUSG00000037112 |
| Gene Name |
salt inducible kinase 2 |
| Synonyms |
G630080D20Rik, Snf1lk2 |
| MMRRC Submission |
068696-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.719)
|
| Stock # |
R8893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50804101-50920373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50810026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 512
(S512R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000041375]
[ENSMUST00000176491]
[ENSMUST00000176663]
[ENSMUST00000176824]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034560
|
| SMART Domains |
Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
9.9e-6 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
5.9e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041375
AA Change: S512R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: S512R
| 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 damaging
Transcript: ENSMUST00000176491
AA Change: S512R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: S512R
| 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 damaging
Transcript: ENSMUST00000176663
AA Change: S512R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: S512R
| 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 damaging
Transcript: ENSMUST00000176824
AA Change: S512R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: S512R
| 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 |
|
| Meta Mutation Damage Score |
0.0824 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,274,511 (GRCm39) |
D749G |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,598,241 (GRCm39) |
I782N |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,888,037 (GRCm39) |
Q436H |
probably damaging |
Het |
| Baz2b |
A |
C |
2: 59,755,149 (GRCm39) |
F269L |
probably damaging |
Het |
| Bivm |
C |
T |
1: 44,158,439 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
A |
T |
7: 4,711,089 (GRCm39) |
D603V |
probably damaging |
Het |
| C2cd3 |
C |
T |
7: 100,104,004 (GRCm39) |
P2006S |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,313,764 (GRCm39) |
F1513L |
probably benign |
Het |
| Cdin1 |
T |
A |
2: 115,505,265 (GRCm39) |
S179T |
probably benign |
Het |
| Cep128 |
C |
T |
12: 91,263,006 (GRCm39) |
E298K |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,531,152 (GRCm39) |
T802A |
unknown |
Het |
| Cnbd2 |
G |
A |
2: 156,154,460 (GRCm39) |
R3Q |
unknown |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Defa28 |
C |
T |
8: 22,073,840 (GRCm39) |
T81I |
|
Het |
| Dync1h1 |
A |
G |
12: 110,608,477 (GRCm39) |
D2735G |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,090,300 (GRCm39) |
I1160F |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,178 (GRCm39) |
M236V |
possibly damaging |
Het |
| H2ac7 |
A |
G |
13: 23,758,664 (GRCm39) |
Q7R |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,501,364 (GRCm39) |
S836P |
possibly damaging |
Het |
| Hdac5 |
T |
A |
11: 102,097,512 (GRCm39) |
K167I |
possibly damaging |
Het |
| Heatr5b |
C |
G |
17: 79,069,424 (GRCm39) |
|
probably benign |
Het |
| Impdh1 |
G |
A |
6: 29,216,248 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,997,193 (GRCm39) |
I192T |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,112,367 (GRCm39) |
A2269V |
|
Het |
| Lamb3 |
A |
G |
1: 193,014,644 (GRCm39) |
N601S |
probably damaging |
Het |
| Ltbp2 |
G |
T |
12: 84,875,316 (GRCm39) |
N569K |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,323 (GRCm39) |
S60G |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,498,850 (GRCm39) |
V149E |
probably damaging |
Het |
| Mcu |
A |
G |
10: 59,287,078 (GRCm39) |
S160P |
probably benign |
Het |
| Miga1 |
A |
G |
3: 151,982,294 (GRCm39) |
L594P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,774,830 (GRCm39) |
I791T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,735,671 (GRCm39) |
M1K |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,285 (GRCm39) |
C129R |
probably damaging |
Het |
| Or5c1 |
A |
G |
2: 37,222,388 (GRCm39) |
I210V |
probably damaging |
Het |
| Ormdl1 |
A |
T |
1: 53,344,708 (GRCm39) |
D90V |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,804,903 (GRCm39) |
|
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,071 (GRCm39) |
L17Q |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,405,522 (GRCm39) |
D458V |
probably damaging |
Het |
| Pgm1 |
T |
G |
4: 99,824,297 (GRCm39) |
N323K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pigw |
A |
T |
11: 84,767,961 (GRCm39) |
I456K |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
A |
10: 94,685,709 (GRCm39) |
I761L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,382,060 (GRCm39) |
M212K |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,717,151 (GRCm39) |
N172D |
probably damaging |
Het |
| Rab3b |
A |
C |
4: 108,797,925 (GRCm39) |
D192A |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,398,350 (GRCm39) |
L1105P |
probably benign |
Het |
| Rinl |
T |
A |
7: 28,491,747 (GRCm39) |
I100N |
probably damaging |
Het |
| Rnf13 |
T |
G |
3: 57,714,520 (GRCm39) |
I193S |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,333,868 (GRCm39) |
I3027V |
|
Het |
| Snx17 |
A |
G |
5: 31,353,887 (GRCm39) |
Y225C |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,987,524 (GRCm39) |
D894V |
probably damaging |
Het |
| Spx |
A |
G |
6: 142,360,543 (GRCm39) |
D65G |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,299,020 (GRCm39) |
S1022* |
probably null |
Het |
| Tchh |
C |
T |
3: 93,354,957 (GRCm39) |
Q1466* |
probably null |
Het |
| Tmem120b |
T |
C |
5: 123,254,302 (GRCm39) |
L292P |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,677 (GRCm39) |
T758A |
probably benign |
Het |
| Vmn2r45 |
C |
T |
7: 8,488,619 (GRCm39) |
C137Y |
probably damaging |
Het |
| Zfp994 |
A |
G |
17: 22,424,306 (GRCm39) |
S4P |
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 |
|
R5098:Sik2
|
UTSW |
9 |
50,906,891 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- GGACGTATCTGATGCTCTGC -3'
(R):5'- GAGTACTCCAGTCCTCTTGC -3'
Sequencing Primer
(F):5'- TTCTCGGAAGCTCACGGG -3'
(R):5'- GTCCTCTTGCCTTATCTTCCTGAAAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation