Incidental Mutation 'R1406:Sik3'
| ID |
188740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik3
|
| Ensembl Gene |
ENSMUSG00000034135 |
| Gene Name |
SIK family kinase 3 |
| Synonyms |
9030204A07Rik, 5730525O22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 46034643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120463]
[ENSMUST00000126865]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120247
|
| SMART Domains |
Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
| 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 benign
Transcript: ENSMUST00000120463
|
| SMART Domains |
Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
| 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 benign
Transcript: ENSMUST00000122865
|
| SMART Domains |
Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
220 |
3.32e-70 |
SMART |
|
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126865
|
| SMART Domains |
Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
| 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: ENSMUST00000215954
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,611 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,552,875 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
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 |
|
|
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 |
|
| Posted On |
2014-05-09 |
Incidental Mutation