Incidental Mutation 'R0714:Sik2'
ID |
85913 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sik2
|
Ensembl Gene |
ENSMUSG00000037112 |
Gene Name |
salt inducible kinase 2 |
Synonyms |
G630080D20Rik, Snf1lk2 |
MMRRC Submission |
038897-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.719)
|
Stock # |
R0714 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50804101-50920373 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50818736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 413
(M413V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041375]
[ENSMUST00000176491]
[ENSMUST00000176663]
[ENSMUST00000176824]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041375
AA Change: M413V
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000038761 Gene: ENSMUSG00000037112 AA Change: M413V
Domain | Start | End | E-Value | Type |
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176491
AA Change: M413V
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000134954 Gene: ENSMUSG00000037112 AA Change: M413V
Domain | Start | End | E-Value | Type |
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176663
AA Change: M413V
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135376 Gene: ENSMUSG00000037112 AA Change: M413V
Domain | Start | End | E-Value | Type |
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176824
AA Change: M413V
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000134936 Gene: ENSMUSG00000037112 AA Change: M413V
Domain | Start | End | E-Value | Type |
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1187 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit darkened hair color in an agouti background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
Adamts13 |
A |
G |
2: 26,876,997 (GRCm39) |
|
probably benign |
Het |
Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,396,047 (GRCm39) |
D646V |
possibly damaging |
Het |
Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,064,499 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
Dmd |
T |
C |
X: 83,353,503 (GRCm39) |
L2240P |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
Nedd4 |
G |
A |
9: 72,638,728 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
Vps11 |
A |
G |
9: 44,270,953 (GRCm39) |
V143A |
possibly damaging |
Het |
Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
Het |
|
Other mutations in Sik2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Sik2
|
APN |
9 |
50,818,763 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01552:Sik2
|
APN |
9 |
50,828,822 (GRCm39) |
splice site |
probably benign |
|
IGL02175:Sik2
|
APN |
9 |
50,806,909 (GRCm39) |
nonsense |
probably null |
|
IGL02355:Sik2
|
APN |
9 |
50,828,903 (GRCm39) |
nonsense |
probably null |
|
IGL02362:Sik2
|
APN |
9 |
50,828,903 (GRCm39) |
nonsense |
probably null |
|
IGL03197:Sik2
|
APN |
9 |
50,807,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Sik2
|
UTSW |
9 |
50,909,833 (GRCm39) |
missense |
probably benign |
0.18 |
R0066:Sik2
|
UTSW |
9 |
50,909,833 (GRCm39) |
missense |
probably benign |
0.18 |
R0109:Sik2
|
UTSW |
9 |
50,810,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0109:Sik2
|
UTSW |
9 |
50,810,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0416:Sik2
|
UTSW |
9 |
50,906,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R0648:Sik2
|
UTSW |
9 |
50,810,045 (GRCm39) |
missense |
probably benign |
0.26 |
R1472:Sik2
|
UTSW |
9 |
50,920,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R1592:Sik2
|
UTSW |
9 |
50,906,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Sik2
|
UTSW |
9 |
50,906,974 (GRCm39) |
splice site |
probably benign |
|
R2032:Sik2
|
UTSW |
9 |
50,906,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R2079:Sik2
|
UTSW |
9 |
50,818,706 (GRCm39) |
critical splice donor site |
probably null |
|
R2853:Sik2
|
UTSW |
9 |
50,809,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R4085:Sik2
|
UTSW |
9 |
50,846,685 (GRCm39) |
intron |
probably benign |
|
R4567:Sik2
|
UTSW |
9 |
50,909,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5098:Sik2
|
UTSW |
9 |
50,906,891 (GRCm39) |
intron |
probably benign |
|
R5176:Sik2
|
UTSW |
9 |
50,810,703 (GRCm39) |
missense |
probably benign |
0.02 |
R5640:Sik2
|
UTSW |
9 |
50,826,806 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5682:Sik2
|
UTSW |
9 |
50,828,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R5779:Sik2
|
UTSW |
9 |
50,807,145 (GRCm39) |
missense |
probably benign |
|
R5935:Sik2
|
UTSW |
9 |
50,828,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R5997:Sik2
|
UTSW |
9 |
50,806,642 (GRCm39) |
critical splice donor site |
probably null |
|
R6664:Sik2
|
UTSW |
9 |
50,846,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Sik2
|
UTSW |
9 |
50,909,834 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6980:Sik2
|
UTSW |
9 |
50,808,755 (GRCm39) |
missense |
probably benign |
0.00 |
R7057:Sik2
|
UTSW |
9 |
50,909,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Sik2
|
UTSW |
9 |
50,818,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R7165:Sik2
|
UTSW |
9 |
50,828,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R7892:Sik2
|
UTSW |
9 |
50,920,132 (GRCm39) |
missense |
probably damaging |
0.98 |
R8252:Sik2
|
UTSW |
9 |
50,828,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8893:Sik2
|
UTSW |
9 |
50,810,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Sik2
|
UTSW |
9 |
50,806,647 (GRCm39) |
missense |
probably benign |
|
R9747:Sik2
|
UTSW |
9 |
50,810,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9753:Sik2
|
UTSW |
9 |
50,807,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATAACTTGTGAAGAGTCAGCCAACC -3'
(R):5'- GCCATATTTTCAGGCACAAACTGTGGG -3'
Sequencing Primer
(F):5'- GCCTGGAGCTGTTACTTAAAC -3'
(R):5'- ACAAACTGTGGGGCTGC -3'
|
Posted On |
2013-11-18 |