Incidental Mutation 'R6812:Sik3'
| ID |
533851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik3
|
| Ensembl Gene |
ENSMUSG00000034135 |
| Gene Name |
SIK family kinase 3 |
| Synonyms |
9030204A07Rik, 5730525O22Rik |
| MMRRC Submission |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46122067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 907
(R907W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120463]
[ENSMUST00000126865]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000112859
Gene: ENSMUSG00000034135
AA Change: R811W
| 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: R857W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: R857W
| 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: R907W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: R907W
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
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 |
|
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 |
|
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'- CCAGTGTAGCACTAACCTGC -3'
(R):5'- AACAGATCTTCCTTCCTTCAGG -3'
Sequencing Primer
(F):5'- TGTAGCACTAACCTGCCTGGG -3'
(R):5'- TTCCTTCAGGCCATCAGGAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation