Incidental Mutation 'IGL01383:Skor1'
| ID |
78950 |
| 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 # |
IGL01383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63053838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 44
(T44S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055281]
[ENSMUST00000116613]
[ENSMUST00000119146]
|
| AlphaFold |
Q8BX46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055281
AA Change: T44S
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: T44S
| 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
AA Change: T5S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: T5S
| 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: T16S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: T16S
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
C |
A |
14: 5,051,570 (GRCm38) |
|
probably null |
Het |
| Abca9 |
A |
C |
11: 110,004,119 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,333,464 (GRCm39) |
M227K |
probably benign |
Het |
| Asb5 |
T |
A |
8: 55,003,544 (GRCm39) |
L22H |
probably damaging |
Het |
| Atrx |
T |
C |
X: 104,845,681 (GRCm39) |
D2309G |
probably damaging |
Het |
| Cand1 |
T |
A |
10: 119,044,072 (GRCm39) |
T1074S |
probably damaging |
Het |
| Cep97 |
T |
C |
16: 55,731,970 (GRCm39) |
E534G |
probably damaging |
Het |
| Cftr |
C |
A |
6: 18,226,040 (GRCm39) |
N329K |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,449,603 (GRCm39) |
T16A |
probably damaging |
Het |
| Col1a1 |
G |
A |
11: 94,836,351 (GRCm39) |
R674H |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,181,243 (GRCm39) |
S50G |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,393,778 (GRCm39) |
D14G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,186,979 (GRCm39) |
R694L |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,672 (GRCm39) |
I151T |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,375 (GRCm39) |
S152P |
probably damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,375,766 (GRCm39) |
V15A |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
| Map3k10 |
C |
T |
7: 27,357,424 (GRCm39) |
V785M |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,195,763 (GRCm39) |
N667S |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,004,196 (GRCm39) |
Y106D |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,576 (GRCm39) |
N821K |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,589,124 (GRCm39) |
S179P |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,140 (GRCm39) |
Y62C |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,316 (GRCm39) |
N88K |
probably benign |
Het |
| Or5i1 |
A |
G |
2: 87,613,217 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pcdhb10 |
A |
T |
18: 37,546,328 (GRCm39) |
H468L |
probably benign |
Het |
| Pramel27 |
T |
G |
4: 143,573,102 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
C |
A |
6: 132,576,841 (GRCm39) |
P43T |
unknown |
Het |
| Psg26 |
A |
G |
7: 18,214,179 (GRCm39) |
V161A |
possibly damaging |
Het |
| Rab17 |
T |
G |
1: 90,887,815 (GRCm39) |
D115A |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,277,552 (GRCm39) |
F611L |
probably damaging |
Het |
| Spaca5 |
T |
C |
X: 20,934,725 (GRCm39) |
|
probably benign |
Het |
| Tatdn3 |
G |
A |
1: 190,787,578 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,412,184 (GRCm39) |
D118G |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,081,528 (GRCm39) |
F230S |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,605,083 (GRCm39) |
S73P |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,383 (GRCm39) |
V658A |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,575 (GRCm39) |
L770F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,259,923 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-11-05 |
Incidental Mutation