Incidental Mutation 'R2077:Sik3'
ID |
229219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sik3
|
Ensembl Gene |
ENSMUSG00000034135 |
Gene Name |
SIK family kinase 3 |
Synonyms |
9030204A07Rik, 5730525O22Rik |
MMRRC Submission |
040082-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2077 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46130801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1246
(Y1246N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120463]
[ENSMUST00000126865]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000120247
AA Change: Y1090N
|
SMART Domains |
Protein: ENSMUSP00000112859 Gene: ENSMUSG00000034135 AA Change: Y1090N
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 |
probably damaging
Transcript: ENSMUST00000120463
AA Change: Y1196N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112749 Gene: ENSMUSG00000034135 AA Change: Y1196N
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 |
probably damaging
Transcript: ENSMUST00000126865
AA Change: Y1246N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121032 Gene: ENSMUSG00000034135 AA Change: Y1246N
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 |
probably benign
Transcript: ENSMUST00000138338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153152
|
Meta Mutation Damage Score |
0.2059 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
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 |
R0299: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 |
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'- TTTGGGCAAATGTGGTCCCTC -3'
(R):5'- AAAGGTCTCCACAGCTTGCAG -3'
Sequencing Primer
(F):5'- AAATGTGGTCCCTCCCCTC -3'
(R):5'- ACAGCTTGCAGAGGGCTG -3'
|
Posted On |
2014-09-17 |