Incidental Mutation 'PIT4515001:Sik3'
ID |
556327 |
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 # |
PIT4515001 (G1)
|
Quality Score |
130.008 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
45924118-46135492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46120029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 706
(L706P)
|
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: L610P
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: L656P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112749 Gene: ENSMUSG00000034135 AA Change: L656P
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: L706P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121032 Gene: ENSMUSG00000034135 AA Change: L706P
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: 93.4%
- 3x: 91.0%
- 10x: 86.0%
- 20x: 75.1%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,068 (GRCm39) |
R966* |
probably null |
Het |
Adam32 |
A |
T |
8: 25,404,342 (GRCm39) |
I221K |
possibly damaging |
Het |
Adcy6 |
T |
C |
15: 98,493,027 (GRCm39) |
T880A |
probably benign |
Het |
Agpat5 |
T |
A |
8: 18,896,657 (GRCm39) |
Y28N |
probably damaging |
Het |
Atg2a |
A |
G |
19: 6,303,615 (GRCm39) |
I1125V |
probably damaging |
Het |
B4galt6 |
A |
G |
18: 20,821,524 (GRCm39) |
Y335H |
probably benign |
Het |
Bend3 |
A |
T |
10: 43,386,630 (GRCm39) |
E341V |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,028,385 (GRCm39) |
Y2351N |
probably damaging |
Het |
Ccdc136 |
T |
A |
6: 29,417,225 (GRCm39) |
V682E |
probably benign |
Het |
Ccdc142 |
T |
C |
6: 83,080,238 (GRCm39) |
C394R |
probably benign |
Het |
Cfap58 |
A |
G |
19: 48,023,122 (GRCm39) |
N845D |
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,660,024 (GRCm39) |
G890R |
unknown |
Het |
Cyp1a2 |
C |
A |
9: 57,589,242 (GRCm39) |
V191L |
probably benign |
Het |
Cyp51 |
A |
T |
5: 4,149,122 (GRCm39) |
|
probably null |
Het |
Diras2 |
T |
C |
13: 52,661,783 (GRCm39) |
S175G |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,091,565 (GRCm39) |
F2242S |
probably damaging |
Het |
Erg |
T |
A |
16: 95,210,619 (GRCm39) |
N78Y |
probably benign |
Het |
Fdft1 |
T |
A |
14: 63,402,032 (GRCm39) |
Q49L |
probably benign |
Het |
Frem1 |
G |
T |
4: 82,818,663 (GRCm39) |
H2183Q |
probably damaging |
Het |
Fut2 |
G |
A |
7: 45,299,890 (GRCm39) |
T294I |
probably damaging |
Het |
Gabrb1 |
A |
C |
5: 71,858,160 (GRCm39) |
D62A |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,238,004 (GRCm39) |
Y263* |
probably null |
Het |
Gimap6 |
T |
C |
6: 48,679,502 (GRCm39) |
D178G |
probably benign |
Het |
Gss |
T |
A |
2: 155,420,261 (GRCm39) |
T147S |
probably damaging |
Het |
Hlcs |
A |
T |
16: 94,068,275 (GRCm39) |
V315E |
probably benign |
Het |
Hoxa3 |
C |
T |
6: 52,147,164 (GRCm39) |
G363E |
unknown |
Het |
Ift140 |
A |
G |
17: 25,305,834 (GRCm39) |
N807S |
probably damaging |
Het |
Iglc1 |
T |
G |
16: 18,880,701 (GRCm39) |
D40A |
|
Het |
Itga10 |
T |
A |
3: 96,569,948 (GRCm39) |
I1120N |
probably damaging |
Het |
Jak3 |
T |
C |
8: 72,132,286 (GRCm39) |
V217A |
probably benign |
Het |
Kank2 |
T |
G |
9: 21,706,179 (GRCm39) |
I280L |
probably benign |
Het |
Kcnk1 |
G |
T |
8: 126,752,081 (GRCm39) |
G229V |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,941,862 (GRCm39) |
T143A |
probably benign |
Het |
Letmd1 |
C |
T |
15: 100,374,683 (GRCm39) |
R310C |
probably damaging |
Het |
Mga |
G |
A |
2: 119,746,985 (GRCm39) |
V379I |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,364,699 (GRCm39) |
Y313N |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,361,153 (GRCm39) |
C1488Y |
probably damaging |
Het |
Nde1 |
T |
A |
16: 13,988,357 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
T |
C |
8: 106,805,835 (GRCm39) |
S235P |
possibly damaging |
Het |
Nup88 |
T |
C |
11: 70,835,547 (GRCm39) |
D602G |
probably benign |
Het |
Or11g25 |
T |
A |
14: 50,723,536 (GRCm39) |
M207K |
probably benign |
Het |
Or2h1b |
A |
C |
17: 37,462,270 (GRCm39) |
S198A |
probably benign |
Het |
Pcnx1 |
G |
A |
12: 82,038,561 (GRCm39) |
C1309Y |
|
Het |
Phldb1 |
A |
G |
9: 44,627,257 (GRCm39) |
I396T |
probably benign |
Het |
Pramel38 |
T |
C |
5: 94,368,831 (GRCm39) |
M442T |
probably benign |
Het |
Pramel41 |
A |
C |
5: 94,594,694 (GRCm39) |
K185Q |
probably benign |
Het |
Prss53 |
G |
A |
7: 127,487,963 (GRCm39) |
T173I |
probably benign |
Het |
Ptpn11 |
C |
A |
5: 121,302,617 (GRCm39) |
D156Y |
probably damaging |
Het |
Rfx8 |
A |
G |
1: 39,729,265 (GRCm39) |
Y167H |
probably benign |
Het |
Rpsa |
T |
A |
9: 119,960,214 (GRCm39) |
I259N |
probably benign |
Het |
Rrm2b |
G |
T |
15: 37,947,048 (GRCm39) |
D84E |
probably benign |
Het |
Scgb2b19 |
A |
T |
7: 32,979,036 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
T |
5: 89,281,112 (GRCm39) |
E426D |
probably damaging |
Het |
Slc8a2 |
C |
A |
7: 15,874,504 (GRCm39) |
L251I |
possibly damaging |
Het |
Taf6 |
T |
C |
5: 138,180,504 (GRCm39) |
K287E |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,657,130 (GRCm39) |
T702I |
probably damaging |
Het |
Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
Tle2 |
A |
G |
10: 81,422,964 (GRCm39) |
Q454R |
possibly damaging |
Het |
Tsc2 |
T |
C |
17: 24,840,121 (GRCm39) |
N425S |
probably benign |
Het |
Utp3 |
A |
G |
5: 88,702,564 (GRCm39) |
D31G |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,401,911 (GRCm39) |
R49* |
probably null |
Het |
Ybx2 |
T |
A |
11: 69,831,224 (GRCm39) |
V273E |
probably benign |
Het |
Zbtb22 |
G |
A |
17: 34,137,672 (GRCm39) |
A606T |
probably benign |
Het |
Zcchc8 |
A |
T |
5: 123,838,995 (GRCm39) |
D514E |
probably benign |
Het |
Zfy2 |
T |
A |
Y: 2,117,096 (GRCm39) |
I244F |
probably benign |
Het |
Zglp1 |
T |
C |
9: 20,977,485 (GRCm39) |
N110S |
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 |
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 |
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'- ATTCCACACTGGGCATTCC -3'
(R):5'- CAATGTGCCTGCCAGCAAAC -3'
Sequencing Primer
(F):5'- ACTGGGCATTCCACAGTGTG -3'
(R):5'- CTCAAAAACGCATTCTGAGAGAGCG -3'
|
Posted On |
2019-06-07 |