Incidental Mutation 'R0299:Sik3'
| ID |
24794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik3
|
| Ensembl Gene |
ENSMUSG00000034135 |
| Gene Name |
SIK family kinase 3 |
| Synonyms |
9030204A07Rik, 5730525O22Rik |
| MMRRC Submission |
038513-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0299 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46120038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 659
(M659T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120463]
[ENSMUST00000126865]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000120247
AA Change: M613T
|
| SMART Domains |
Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: M613T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
19 |
270 |
5.4e-102 |
SMART |
|
internal_repeat_1
|
349 |
392 |
8.97e-6 |
PROSPERO |
|
low complexity region
|
436 |
445 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
492 |
536 |
8.97e-6 |
PROSPERO |
|
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120463
AA Change: M659T
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: M659T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
53 |
N/A |
INTRINSIC |
|
S_TKc
|
64 |
315 |
5.4e-102 |
SMART |
|
low complexity region
|
529 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
658 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1011 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126865
AA Change: M709T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: M709T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
S_TKc
|
66 |
317 |
5.4e-102 |
SMART |
|
internal_repeat_1
|
444 |
487 |
1.55e-6 |
PROSPERO |
|
low complexity region
|
531 |
540 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
587 |
631 |
1.55e-6 |
PROSPERO |
|
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
1046 |
1061 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153152
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.3%
- 20x: 90.1%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired chondrocyte hypertrophy during development, neonatal lethality and reduced size. Mice homozygous for a gain of function ENU mutation exhibit decreased total wake time, owing to an increase in inherent sleep need. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,615 (GRCm39) |
R176S |
possibly damaging |
Het |
| A2ml1 |
T |
G |
6: 128,530,195 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,248,076 (GRCm39) |
E2608K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,197,201 (GRCm39) |
E146G |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,588,015 (GRCm39) |
D894V |
probably damaging |
Het |
| Ap4b1 |
T |
C |
3: 103,717,262 (GRCm39) |
M1T |
probably null |
Het |
| Arg2 |
A |
G |
12: 79,194,386 (GRCm39) |
D70G |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,510,161 (GRCm39) |
T86K |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,647,858 (GRCm39) |
V69A |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,262,950 (GRCm39) |
D534V |
probably damaging |
Het |
| Col16a1 |
TCCCC |
TCCC |
4: 129,952,111 (GRCm39) |
|
probably null |
Het |
| Degs1 |
A |
T |
1: 182,106,836 (GRCm39) |
I141N |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,934,483 (GRCm39) |
F1489L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,514,646 (GRCm39) |
R1424G |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,767,466 (GRCm39) |
I716T |
probably benign |
Het |
| Frk |
T |
C |
10: 34,360,367 (GRCm39) |
|
probably null |
Het |
| Fshr |
C |
G |
17: 89,316,713 (GRCm39) |
S169T |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
| Gm11596 |
G |
A |
11: 99,683,770 (GRCm39) |
P117S |
unknown |
Het |
| Gm6327 |
T |
C |
16: 12,579,061 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,476,121 (GRCm39) |
L268P |
probably damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,671 (GRCm39) |
V203M |
probably damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,363 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,309 (GRCm39) |
Y317* |
probably null |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,560 (GRCm39) |
L372P |
probably benign |
Het |
| Mss51 |
T |
A |
14: 20,534,756 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,306,466 (GRCm39) |
T296I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,893,881 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,732 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak9 |
A |
G |
4: 118,726,613 (GRCm39) |
I212V |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,688,791 (GRCm39) |
V820A |
probably benign |
Het |
| Pdcd10 |
T |
C |
3: 75,434,958 (GRCm39) |
K111R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,201,924 (GRCm39) |
V496E |
probably benign |
Het |
| Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
| Plxnc1 |
C |
T |
10: 94,685,683 (GRCm39) |
|
probably null |
Het |
| Ptpru |
G |
A |
4: 131,530,698 (GRCm39) |
Q519* |
probably null |
Het |
| Pzp |
A |
G |
6: 128,472,293 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,828,426 (GRCm39) |
D547E |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,732,016 (GRCm39) |
L281Q |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,967,729 (GRCm39) |
N222S |
probably benign |
Het |
| Sh3bgrl2 |
A |
G |
9: 83,459,612 (GRCm39) |
K57E |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 59,007,383 (GRCm39) |
E289G |
probably benign |
Het |
| Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,227,053 (GRCm39) |
|
probably benign |
Het |
| Suco |
G |
A |
1: 161,681,379 (GRCm39) |
T253I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,263,359 (GRCm39) |
D1409G |
probably damaging |
Het |
| Tram2 |
T |
C |
1: 21,074,468 (GRCm39) |
D238G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,964,237 (GRCm39) |
M1244T |
possibly damaging |
Het |
| Trub1 |
A |
G |
19: 57,472,057 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ugcg |
G |
C |
4: 59,217,036 (GRCm39) |
V187L |
possibly damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,494 (GRCm39) |
Q265L |
probably damaging |
Het |
| Zfp821 |
G |
T |
8: 110,450,862 (GRCm39) |
R285L |
probably damaging |
Het |
|
| Other mutations in Sik3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01569:Sik3
|
APN |
9 |
46,123,024 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02957:Sik3
|
APN |
9 |
46,107,143 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Holistic
|
UTSW |
9 |
46,123,539 (GRCm39) |
nonsense |
probably null |
|
|
IGL03052:Sik3
|
UTSW |
9 |
46,109,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4515001:Sik3
|
UTSW |
9 |
46,120,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Sik3
|
UTSW |
9 |
46,120,038 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0344:Sik3
|
UTSW |
9 |
46,120,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0411:Sik3
|
UTSW |
9 |
46,120,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0499:Sik3
|
UTSW |
9 |
46,120,038 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0745:Sik3
|
UTSW |
9 |
46,109,537 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1017:Sik3
|
UTSW |
9 |
46,107,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1310:Sik3
|
UTSW |
9 |
46,130,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1355:Sik3
|
UTSW |
9 |
46,107,170 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1406:Sik3
|
UTSW |
9 |
46,034,643 (GRCm39) |
splice site |
probably benign |
|
|
R1457:Sik3
|
UTSW |
9 |
46,132,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Sik3
|
UTSW |
9 |
46,132,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1497:Sik3
|
UTSW |
9 |
46,113,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Sik3
|
UTSW |
9 |
46,132,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1883:Sik3
|
UTSW |
9 |
46,132,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1884:Sik3
|
UTSW |
9 |
46,132,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1903:Sik3
|
UTSW |
9 |
46,132,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1918:Sik3
|
UTSW |
9 |
46,132,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2077:Sik3
|
UTSW |
9 |
46,130,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2379:Sik3
|
UTSW |
9 |
46,066,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Sik3
|
UTSW |
9 |
46,106,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3809:Sik3
|
UTSW |
9 |
46,130,784 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3955:Sik3
|
UTSW |
9 |
46,109,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Sik3
|
UTSW |
9 |
46,113,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Sik3
|
UTSW |
9 |
46,109,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5195:Sik3
|
UTSW |
9 |
46,120,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5256:Sik3
|
UTSW |
9 |
46,123,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5432:Sik3
|
UTSW |
9 |
46,034,539 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5985:Sik3
|
UTSW |
9 |
46,122,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Sik3
|
UTSW |
9 |
46,089,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6540:Sik3
|
UTSW |
9 |
46,123,351 (GRCm39) |
missense |
probably benign |
|
|
R6732:Sik3
|
UTSW |
9 |
46,123,851 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6812:Sik3
|
UTSW |
9 |
46,122,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Sik3
|
UTSW |
9 |
46,122,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Sik3
|
UTSW |
9 |
46,123,355 (GRCm39) |
small deletion |
probably benign |
|
|
R7875:Sik3
|
UTSW |
9 |
46,034,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Sik3
|
UTSW |
9 |
46,066,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Sik3
|
UTSW |
9 |
46,120,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8812:Sik3
|
UTSW |
9 |
46,089,811 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9063:Sik3
|
UTSW |
9 |
46,123,735 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9159:Sik3
|
UTSW |
9 |
46,123,539 (GRCm39) |
nonsense |
probably null |
|
|
R9223:Sik3
|
UTSW |
9 |
46,066,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9232:Sik3
|
UTSW |
9 |
46,123,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Sik3
|
UTSW |
9 |
46,120,117 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9605:Sik3
|
UTSW |
9 |
46,120,117 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9660:Sik3
|
UTSW |
9 |
46,106,142 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9728:Sik3
|
UTSW |
9 |
46,106,142 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0017:Sik3
|
UTSW |
9 |
46,123,797 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTCCACACTGGGCATTCCAC -3'
(R):5'- CAATGTGCCTGCCAGCAAACTC -3'
Sequencing Primer
(F):5'- GGCATTCCACAGTGTGTCC -3'
(R):5'- TCAAAAACGCATTCTGAGAGAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation