Incidental Mutation 'R5432:Sik3'
| ID |
428100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik3
|
| Ensembl Gene |
ENSMUSG00000034135 |
| Gene Name |
SIK family kinase 3 |
| Synonyms |
9030204A07Rik, 5730525O22Rik |
| MMRRC Submission |
042997-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5432 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46034539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 98
(S98G)
|
| 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: S52G
|
| SMART Domains |
Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: S52G
| 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
AA Change: S98G
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: S98G
| 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 |
unknown
Transcript: ENSMUST00000122865
AA Change: S2G
|
| SMART Domains |
Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
AA Change: S2G
| 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
AA Change: S100G
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: S100G
| 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: 97.0%
- 20x: 94.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
G |
A |
9: 4,309,349 (GRCm39) |
R30* |
probably null |
Het |
| Abca9 |
G |
A |
11: 110,032,380 (GRCm39) |
R746W |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,252,578 (GRCm39) |
E236G |
probably damaging |
Het |
| Asb4 |
A |
C |
6: 5,430,912 (GRCm39) |
R382S |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,178,814 (GRCm39) |
S2458P |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,400,952 (GRCm39) |
V148A |
probably benign |
Het |
| Cacna2d3 |
A |
C |
14: 28,665,512 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 51,963,228 (GRCm39) |
H390Q |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,721,305 (GRCm39) |
S7P |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,262,991 (GRCm39) |
T191A |
possibly damaging |
Het |
| Cts8 |
A |
C |
13: 61,398,826 (GRCm39) |
F227V |
probably benign |
Het |
| Elac1 |
T |
C |
18: 73,875,864 (GRCm39) |
T56A |
possibly damaging |
Het |
| Fjx1 |
T |
C |
2: 102,280,864 (GRCm39) |
N357S |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,069 (GRCm39) |
T453A |
probably damaging |
Het |
| Hcls1 |
G |
A |
16: 36,781,910 (GRCm39) |
E340K |
probably benign |
Het |
| Hrc |
C |
A |
7: 44,986,285 (GRCm39) |
H479N |
possibly damaging |
Het |
| Ikzf4 |
A |
G |
10: 128,470,047 (GRCm39) |
V491A |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,873,992 (GRCm39) |
S138P |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,705,123 (GRCm39) |
D3062Y |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,573,042 (GRCm39) |
E599G |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,598,449 (GRCm39) |
S442P |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,353,129 (GRCm39) |
K1517* |
probably null |
Het |
| Myo9a |
A |
T |
9: 59,772,953 (GRCm39) |
Y995F |
possibly damaging |
Het |
| Nek3 |
A |
C |
8: 22,638,748 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,923 (GRCm39) |
T531A |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2m12 |
A |
T |
16: 19,104,839 (GRCm39) |
I218N |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,775,400 (GRCm39) |
V470A |
possibly damaging |
Het |
| Pinlyp |
T |
C |
7: 24,241,892 (GRCm39) |
D105G |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,186,817 (GRCm39) |
|
probably null |
Het |
| Plpp7 |
A |
G |
2: 31,985,932 (GRCm39) |
S37G |
probably benign |
Het |
| Prdm11 |
G |
T |
2: 92,806,158 (GRCm39) |
P264Q |
probably benign |
Het |
| Rbl2 |
G |
T |
8: 91,828,911 (GRCm39) |
R604L |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,500,584 (GRCm39) |
T115A |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,311,519 (GRCm39) |
Q279R |
probably benign |
Het |
| Sdha |
G |
T |
13: 74,475,068 (GRCm39) |
A591D |
probably damaging |
Het |
| Secisbp2 |
AAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCA |
13: 51,828,002 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,872,977 (GRCm39) |
R39W |
probably damaging |
Het |
| Serpina3f |
T |
C |
12: 104,186,577 (GRCm39) |
I381T |
possibly damaging |
Het |
| Shd |
A |
T |
17: 56,283,214 (GRCm39) |
Q281L |
probably damaging |
Het |
| Srgap1 |
T |
A |
10: 121,705,728 (GRCm39) |
N232I |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,164 (GRCm39) |
N246Y |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,368,022 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
G |
6: 13,190,591 (GRCm39) |
M500T |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,183,228 (GRCm39) |
S1053R |
probably damaging |
Het |
| Yif1b |
T |
C |
7: 28,945,393 (GRCm39) |
C192R |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,568,687 (GRCm39) |
S1327G |
probably damaging |
Het |
| Zfp1004 |
A |
G |
2: 150,033,901 (GRCm39) |
N74S |
possibly 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 |
|
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 |
|
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'- CCGTTGAGACAAACTTCCTTGG -3'
(R):5'- TTGCTTGGGAGAATCAAAGGAC -3'
Sequencing Primer
(F):5'- CGTTGAGACAAACTTCCTTGGAATCC -3'
(R):5'- AGTGCTCGGATGGCAGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation