Incidental Mutation 'IGL02503:Skor1'
| ID |
296135 |
| 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 # |
IGL02503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63053397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 191
(S191P)
|
| 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: S191P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: S191P
| 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: S152P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: S152P
| 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: S163P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: S163P
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,008,962 (GRCm39) |
W822R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,390,598 (GRCm39) |
Y807* |
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,347,852 (GRCm39) |
G215D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,545 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,940 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,621 (GRCm39) |
Y1411* |
probably null |
Het |
| Dmrtc1b |
T |
A |
X: 101,758,366 (GRCm39) |
S199T |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,942,277 (GRCm39) |
N50D |
probably damaging |
Het |
| Filip1l |
T |
A |
16: 57,391,938 (GRCm39) |
V604E |
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,796,433 (GRCm39) |
H46Q |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,990,348 (GRCm39) |
Y1116F |
unknown |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,817 (GRCm39) |
N108I |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,710,644 (GRCm39) |
M316K |
probably damaging |
Het |
| Gm5591 |
C |
A |
7: 38,219,433 (GRCm39) |
R480I |
probably damaging |
Het |
| Gm8122 |
G |
T |
14: 43,092,645 (GRCm39) |
R39S |
unknown |
Het |
| Gprasp1 |
T |
A |
X: 134,703,279 (GRCm39) |
Y1157* |
probably null |
Het |
| H2bc21 |
A |
G |
3: 96,128,539 (GRCm39) |
T20A |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,870 (GRCm39) |
L370P |
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,645,770 (GRCm39) |
I809F |
probably damaging |
Het |
| Itsn1 |
G |
T |
16: 91,686,092 (GRCm39) |
M54I |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,057 (GRCm39) |
N184S |
probably benign |
Het |
| Lifr |
T |
A |
15: 7,215,104 (GRCm39) |
V737E |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,033,767 (GRCm39) |
T1037A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,062,988 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Mthfd1l |
T |
A |
10: 4,033,824 (GRCm39) |
V737D |
probably damaging |
Het |
| Mtm1 |
A |
G |
X: 70,343,276 (GRCm39) |
T386A |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,404 (GRCm39) |
V4298A |
probably benign |
Het |
| Or10ag2 |
T |
G |
2: 87,248,636 (GRCm39) |
F81L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,632,864 (GRCm39) |
I44F |
probably benign |
Het |
| Or8k21 |
C |
T |
2: 86,144,983 (GRCm39) |
G216R |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,285 (GRCm39) |
S1531P |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,980,210 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,815,924 (GRCm39) |
N1065K |
probably benign |
Het |
| Rpsa |
A |
G |
9: 119,957,659 (GRCm39) |
E35G |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,469,704 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,449,661 (GRCm39) |
|
probably benign |
Het |
| Slc28a2 |
T |
C |
2: 122,288,693 (GRCm39) |
F600L |
probably benign |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,250 (GRCm39) |
|
noncoding transcript |
Het |
| Top2b |
A |
G |
14: 16,407,163 (GRCm38) |
M678V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,107 (GRCm39) |
N8092S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,572,033 (GRCm39) |
V26287I |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,263,666 (GRCm39) |
I345N |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,384,622 (GRCm39) |
V21I |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,018,564 (GRCm39) |
T859A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,018,558 (GRCm39) |
K861E |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,628 (GRCm39) |
V617A |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,151,341 (GRCm39) |
Y91C |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,385 (GRCm39) |
I657F |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,302,418 (GRCm39) |
R931G |
unknown |
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 |
|
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 |
2015-04-16 |
Incidental Mutation