Incidental Mutation 'IGL01344:Skor1'
ID |
74972 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Skor1
|
Ensembl Gene |
ENSMUSG00000022245 |
Gene Name |
SKI family transcriptional corepressor 1 |
Synonyms |
Corl1, Lbxcor1, C230094B15Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.497)
|
Stock # |
IGL01344
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63049560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 787
(S787R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055281]
[ENSMUST00000116613]
[ENSMUST00000119146]
|
AlphaFold |
Q8BX46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055281
AA Change: S826R
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000055037 Gene: ENSMUSG00000022245 AA Change: S826R
Domain | Start | End | E-Value | Type |
Pfam:Ski_Sno
|
61 |
168 |
3.2e-41 |
PFAM |
c-SKI_SMAD_bind
|
180 |
272 |
2.48e-56 |
SMART |
low complexity region
|
284 |
312 |
N/A |
INTRINSIC |
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
low complexity region
|
345 |
366 |
N/A |
INTRINSIC |
low complexity region
|
379 |
398 |
N/A |
INTRINSIC |
low complexity region
|
414 |
454 |
N/A |
INTRINSIC |
low complexity region
|
465 |
479 |
N/A |
INTRINSIC |
low complexity region
|
502 |
525 |
N/A |
INTRINSIC |
low complexity region
|
568 |
582 |
N/A |
INTRINSIC |
low complexity region
|
616 |
630 |
N/A |
INTRINSIC |
low complexity region
|
684 |
696 |
N/A |
INTRINSIC |
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
850 |
937 |
1e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116613
AA Change: S787R
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112312 Gene: ENSMUSG00000022245 AA Change: S787R
Domain | Start | End | E-Value | Type |
Pfam:Ski_Sno
|
17 |
130 |
3.5e-42 |
PFAM |
c-SKI_SMAD_bind
|
141 |
233 |
2.48e-56 |
SMART |
low complexity region
|
245 |
273 |
N/A |
INTRINSIC |
low complexity region
|
294 |
303 |
N/A |
INTRINSIC |
low complexity region
|
306 |
327 |
N/A |
INTRINSIC |
low complexity region
|
340 |
359 |
N/A |
INTRINSIC |
low complexity region
|
375 |
415 |
N/A |
INTRINSIC |
low complexity region
|
426 |
440 |
N/A |
INTRINSIC |
low complexity region
|
463 |
486 |
N/A |
INTRINSIC |
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
low complexity region
|
577 |
591 |
N/A |
INTRINSIC |
low complexity region
|
645 |
657 |
N/A |
INTRINSIC |
low complexity region
|
676 |
689 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
811 |
898 |
1e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119146
AA Change: S798R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113924 Gene: ENSMUSG00000022245 AA Change: S798R
Domain | Start | End | E-Value | Type |
Pfam:Ski_Sno
|
28 |
141 |
3e-42 |
PFAM |
c-SKI_SMAD_bind
|
152 |
244 |
2.48e-56 |
SMART |
low complexity region
|
256 |
284 |
N/A |
INTRINSIC |
low complexity region
|
305 |
314 |
N/A |
INTRINSIC |
low complexity region
|
317 |
338 |
N/A |
INTRINSIC |
low complexity region
|
351 |
370 |
N/A |
INTRINSIC |
low complexity region
|
386 |
426 |
N/A |
INTRINSIC |
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
low complexity region
|
588 |
602 |
N/A |
INTRINSIC |
low complexity region
|
656 |
668 |
N/A |
INTRINSIC |
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
822 |
909 |
1e-5 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly damaging |
Het |
|
Other mutations in Skor1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Skor1
|
APN |
9 |
63,053,723 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00736:Skor1
|
APN |
9 |
63,046,820 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01383:Skor1
|
APN |
9 |
63,053,838 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01456:Skor1
|
APN |
9 |
63,052,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02503:Skor1
|
APN |
9 |
63,053,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02526:Skor1
|
APN |
9 |
63,053,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02699:Skor1
|
APN |
9 |
63,047,328 (GRCm39) |
splice site |
probably benign |
|
R0041:Skor1
|
UTSW |
9 |
63,053,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Skor1
|
UTSW |
9 |
63,053,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Skor1
|
UTSW |
9 |
63,047,393 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1464:Skor1
|
UTSW |
9 |
63,047,393 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1581:Skor1
|
UTSW |
9 |
63,053,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R1598:Skor1
|
UTSW |
9 |
63,053,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R2172:Skor1
|
UTSW |
9 |
63,052,404 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3734:Skor1
|
UTSW |
9 |
63,047,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R3803:Skor1
|
UTSW |
9 |
63,052,868 (GRCm39) |
missense |
probably benign |
0.06 |
R3839:Skor1
|
UTSW |
9 |
63,051,730 (GRCm39) |
missense |
probably damaging |
0.97 |
R4627:Skor1
|
UTSW |
9 |
63,052,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4698:Skor1
|
UTSW |
9 |
63,051,830 (GRCm39) |
missense |
probably benign |
|
R4712:Skor1
|
UTSW |
9 |
63,046,855 (GRCm39) |
splice site |
probably null |
|
R4781:Skor1
|
UTSW |
9 |
63,051,741 (GRCm39) |
missense |
probably benign |
|
R5089:Skor1
|
UTSW |
9 |
63,053,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R5735:Skor1
|
UTSW |
9 |
63,053,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R6279:Skor1
|
UTSW |
9 |
63,052,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R6300:Skor1
|
UTSW |
9 |
63,052,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R6396:Skor1
|
UTSW |
9 |
63,052,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:Skor1
|
UTSW |
9 |
63,047,636 (GRCm39) |
splice site |
probably null |
|
R7371:Skor1
|
UTSW |
9 |
63,054,169 (GRCm39) |
splice site |
probably null |
|
R7448:Skor1
|
UTSW |
9 |
63,053,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Skor1
|
UTSW |
9 |
63,053,730 (GRCm39) |
missense |
probably damaging |
0.99 |
R7496:Skor1
|
UTSW |
9 |
63,054,132 (GRCm39) |
missense |
probably benign |
0.02 |
R7606:Skor1
|
UTSW |
9 |
63,052,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Skor1
|
UTSW |
9 |
63,049,045 (GRCm39) |
missense |
probably benign |
0.08 |
R7689:Skor1
|
UTSW |
9 |
63,052,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Skor1
|
UTSW |
9 |
63,052,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Skor1
|
UTSW |
9 |
63,053,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R7911:Skor1
|
UTSW |
9 |
63,052,328 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8399:Skor1
|
UTSW |
9 |
63,052,440 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8546:Skor1
|
UTSW |
9 |
63,049,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R9244:Skor1
|
UTSW |
9 |
63,049,524 (GRCm39) |
critical splice donor site |
probably null |
|
R9723:Skor1
|
UTSW |
9 |
63,053,714 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Skor1
|
UTSW |
9 |
63,052,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-10-07 |