Incidental Mutation 'IGL02526:Skor1'
| ID |
297114 |
| 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 # |
IGL02526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63053159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 270
(M270K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055281]
[ENSMUST00000116613]
[ENSMUST00000119146]
|
| AlphaFold |
Q8BX46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055281
AA Change: M270K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: M270K
| 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 damaging
Transcript: ENSMUST00000116613
AA Change: M231K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: M231K
| 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 damaging
Transcript: ENSMUST00000119146
AA Change: M242K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: M242K
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
| Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,605,948 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
| Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,839,791 (GRCm39) |
M435L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,081 (GRCm39) |
F442L |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Prmt8 |
A |
C |
6: 127,688,786 (GRCm39) |
S195A |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
| Slc12a4 |
T |
C |
8: 106,676,438 (GRCm39) |
N495D |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
| Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
| Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation