Incidental Mutation 'IGL01552:Sik2'
| ID |
90617 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sik2
|
| Ensembl Gene |
ENSMUSG00000037112 |
| Gene Name |
salt inducible kinase 2 |
| Synonyms |
G630080D20Rik, Snf1lk2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.719)
|
| Stock # |
IGL01552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50804101-50920373 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 50828822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
| 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
|
| SMART Domains |
Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
| 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
|
| SMART Domains |
Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
G |
T |
11: 49,695,832 (GRCm39) |
E21* |
probably null |
Het |
| Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,097,136 (GRCm39) |
|
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,161 (GRCm39) |
M734T |
probably benign |
Het |
| Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
| Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
| Nipsnap1 |
A |
T |
11: 4,839,124 (GRCm39) |
S135C |
probably damaging |
Het |
| Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
| Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,961,286 (GRCm39) |
V111A |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
G |
A |
10: 127,561,970 (GRCm39) |
E25K |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
probably damaging |
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 |
|
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 |
|
R0714:Sik2
|
UTSW |
9 |
50,818,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation