Incidental Mutation 'IGL02699:Skor1'
ID |
304079 |
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: 0.444)
|
Stock # |
IGL02699
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 63047328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055281]
[ENSMUST00000116613]
[ENSMUST00000119146]
|
AlphaFold |
Q8BX46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055281
|
SMART Domains |
Protein: ENSMUSP00000055037 Gene: ENSMUSG00000022245
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 |
probably benign
Transcript: ENSMUST00000116613
|
SMART Domains |
Protein: ENSMUSP00000112312 Gene: ENSMUSG00000022245
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
|
SMART Domains |
Protein: ENSMUSP00000113924 Gene: ENSMUSG00000022245
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
C |
10: 77,157,853 (GRCm39) |
D198G |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,047,263 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
A |
9: 78,579,271 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
T |
G |
4: 47,284,471 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
T |
C |
18: 80,493,400 (GRCm39) |
D365G |
probably benign |
Het |
Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
Dalrd3 |
T |
A |
9: 108,448,088 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,139,105 (GRCm39) |
|
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fbxo8 |
A |
G |
8: 57,043,223 (GRCm39) |
T236A |
possibly damaging |
Het |
Ighv1-12 |
C |
A |
12: 114,579,736 (GRCm39) |
E29* |
probably null |
Het |
Il17re |
A |
G |
6: 113,445,880 (GRCm39) |
D397G |
probably damaging |
Het |
Ing5 |
A |
G |
1: 93,744,164 (GRCm39) |
N157D |
possibly damaging |
Het |
Ipo11 |
T |
C |
13: 107,025,905 (GRCm39) |
E395G |
possibly damaging |
Het |
Letm1 |
T |
C |
5: 33,902,492 (GRCm39) |
E599G |
possibly damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,317 (GRCm39) |
T287A |
probably benign |
Het |
Med1 |
T |
C |
11: 98,070,851 (GRCm39) |
N131D |
possibly damaging |
Het |
Or10ak13 |
G |
T |
4: 118,639,349 (GRCm39) |
C144* |
probably null |
Het |
Or13p3 |
T |
C |
4: 118,567,395 (GRCm39) |
S264P |
probably benign |
Het |
Or6c2b |
T |
G |
10: 128,947,640 (GRCm39) |
Y218S |
probably benign |
Het |
Or8k38 |
A |
T |
2: 86,488,691 (GRCm39) |
I37N |
probably benign |
Het |
Osm |
T |
C |
11: 4,189,723 (GRCm39) |
V169A |
possibly damaging |
Het |
Phkg2 |
C |
T |
7: 127,181,722 (GRCm39) |
A278V |
probably benign |
Het |
Plod2 |
T |
A |
9: 92,489,195 (GRCm39) |
M709K |
probably damaging |
Het |
Pzp |
A |
T |
6: 128,464,364 (GRCm39) |
|
probably null |
Het |
Ric1 |
T |
C |
19: 29,499,957 (GRCm39) |
L12P |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Syncrip |
A |
G |
9: 88,338,607 (GRCm39) |
|
probably benign |
Het |
Tex2 |
T |
C |
11: 106,459,259 (GRCm39) |
E57G |
possibly damaging |
Het |
Tmc1 |
C |
T |
19: 20,809,714 (GRCm39) |
|
probably null |
Het |
Tmem59 |
T |
C |
4: 107,049,735 (GRCm39) |
M140T |
probably benign |
Het |
Ttn |
T |
C |
2: 76,774,433 (GRCm39) |
T2158A |
probably 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 |
IGL01344:Skor1
|
APN |
9 |
63,049,560 (GRCm39) |
missense |
possibly damaging |
0.79 |
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 |
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 |
2015-04-16 |