Incidental Mutation 'IGL02175:Sik2'
| ID |
283085 |
| 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 # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50804101-50920373 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 50806909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 834
(Q834*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000041375]
[ENSMUST00000174628]
[ENSMUST00000176349]
[ENSMUST00000176491]
[ENSMUST00000176663]
[ENSMUST00000176798]
[ENSMUST00000176824]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034560
|
| SMART Domains |
Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
9.9e-6 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
5.9e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000041375
AA Change: Q834*
|
| SMART Domains |
Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: Q834*
| 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: ENSMUST00000174628
|
| SMART Domains |
Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
4.6e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.5e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.7e-11 |
PFAM |
|
low complexity region
|
643 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176349
|
| SMART Domains |
Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
114 |
144 |
2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
116 |
179 |
8.7e-6 |
PFAM |
|
Pfam:HEAT
|
153 |
183 |
5.5e-5 |
PFAM |
|
Pfam:HEAT
|
231 |
261 |
5.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
314 |
415 |
9.3e-11 |
PFAM |
|
Pfam:HEAT_2
|
430 |
532 |
4.4e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176491
AA Change: Q834*
|
| SMART Domains |
Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: Q834*
| 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 null
Transcript: ENSMUST00000176663
AA Change: Q834*
|
| SMART Domains |
Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: Q834*
| 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: ENSMUST00000176798
|
| SMART Domains |
Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.3e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
1e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
6e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.2e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176824
AA Change: Q834*
|
| SMART Domains |
Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: Q834*
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation