Incidental Mutation 'R3791:Sik3'
| ID |
272540 |
| 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 # |
R3791 (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 T
at 46106120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 329
(L329F)
|
| 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: L281F
|
| SMART Domains |
Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: L281F
| 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: L327F
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: L327F
| 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: L231F
|
| SMART Domains |
Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
AA Change: L231F
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
220 |
3.32e-70 |
SMART |
|
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126865
AA Change: L329F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: L329F
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
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 |
|
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'- AGCCCTGAGGGTTTTGTCAG -3'
(R):5'- ACAAAGCAGCTCCTTCCTTC -3'
Sequencing Primer
(F):5'- AGGGTTTTGTCAGCCCATAGC -3'
(R):5'- TTCCCTCTCAGGTCCAGGAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation