Incidental Mutation 'R9660:Sik3'
| ID |
727528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik3
|
| Ensembl Gene |
ENSMUSG00000034135 |
| Gene Name |
SIK family kinase 3 |
| Synonyms |
9030204A07Rik, 5730525O22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46106142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 337
(K337E)
|
| 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: K289E
| 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: K335E
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112749
Gene: ENSMUSG00000034135
AA Change: K335E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115981
Gene: ENSMUSG00000034135
AA Change: K239E
| 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: K337E
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121032
Gene: ENSMUSG00000034135
AA Change: K337E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,851,478 (GRCm39) |
M819V |
probably benign |
Het |
| Abca5 |
T |
A |
11: 110,168,248 (GRCm39) |
T1461S |
possibly damaging |
Het |
| Actl6b |
C |
T |
5: 137,562,766 (GRCm39) |
R161C |
probably damaging |
Het |
| Aoc3 |
C |
G |
11: 101,221,914 (GRCm39) |
P50R |
possibly damaging |
Het |
| Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
| Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
| Cdh11 |
C |
T |
8: 103,384,879 (GRCm39) |
G399S |
possibly damaging |
Het |
| Chrna10 |
G |
T |
7: 101,761,416 (GRCm39) |
L392I |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
| Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,620,627 (GRCm39) |
V453A |
probably benign |
Het |
| Dpp9 |
A |
G |
17: 56,494,458 (GRCm39) |
Y834H |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,262,285 (GRCm39) |
I598T |
possibly damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,153 (GRCm39) |
R126C |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,806,426 (GRCm39) |
M196K |
probably benign |
Het |
| Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,606,494 (GRCm39) |
M157K |
possibly damaging |
Het |
| Gna11 |
T |
C |
10: 81,370,918 (GRCm39) |
N106S |
probably benign |
Het |
| Gtf3c1 |
A |
C |
7: 125,262,199 (GRCm39) |
S1116A |
possibly damaging |
Het |
| Gucy2d |
C |
A |
7: 98,099,064 (GRCm39) |
D294E |
probably damaging |
Het |
| Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
| Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,683,617 (GRCm39) |
Y292H |
probably damaging |
Het |
| Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,154,184 (GRCm39) |
S1088P |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
| Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,189,403 (GRCm39) |
V191A |
possibly damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,051,353 (GRCm39) |
T36A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,105,402 (GRCm39) |
T1517A |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or4a27 |
T |
C |
2: 88,559,142 (GRCm39) |
K267R |
probably damaging |
Het |
| Or4g17 |
T |
G |
2: 111,210,239 (GRCm39) |
I298R |
probably damaging |
Het |
| Or4p23 |
T |
C |
2: 88,576,872 (GRCm39) |
Y120C |
probably damaging |
Het |
| Or51h7 |
C |
T |
7: 102,591,259 (GRCm39) |
C175Y |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,487,592 (GRCm39) |
S1804T |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,082,191 (GRCm39) |
V35D |
possibly damaging |
Het |
| Pde10a |
C |
A |
17: 9,170,370 (GRCm39) |
T347K |
probably damaging |
Het |
| Rcc1l |
A |
G |
5: 134,182,977 (GRCm39) |
Y432H |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
| Ripor3 |
T |
A |
2: 167,831,646 (GRCm39) |
D385V |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,178 (GRCm39) |
K330E |
probably damaging |
Het |
| Ryr3 |
T |
G |
2: 112,664,074 (GRCm39) |
D1759A |
probably benign |
Het |
| Scube3 |
A |
G |
17: 28,371,414 (GRCm39) |
D43G |
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
| Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,648,698 (GRCm39) |
M473K |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
| Spag6 |
C |
A |
2: 18,704,047 (GRCm39) |
Q32K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,024,365 (GRCm39) |
S850T |
probably damaging |
Het |
| Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
| Trpm2 |
T |
A |
10: 77,766,389 (GRCm39) |
I877L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,152 (GRCm39) |
I19286V |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
| Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
| Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
probably benign |
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 |
|
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 |
|
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'- GATTGCCAGAACTGTCTTGC -3'
(R):5'- ACAAAGCAGCTCCTTCCTTC -3'
Sequencing Primer
(F):5'- GCTTAGACTTCGTATGACACCCAC -3'
(R):5'- TTCCCTCTCAGGTCCAGGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation