Incidental Mutation 'R0041:Skor1'
| ID |
64709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skor1
|
| Ensembl Gene |
ENSMUSG00000022245 |
| Gene Name |
SKI family transcriptional corepressor 1 |
| Synonyms |
Corl1, Lbxcor1, C230094B15Rik |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.497)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
98 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 63053133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 279
(T279P)
|
| 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: T279P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: T279P
| 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: T240P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: T240P
| 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: T251P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: T251P
| 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 |
|
| Meta Mutation Damage Score |
0.0940 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
| AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
| Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
| Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
| Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
| Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTGCTGGGCACTGGAATCAC -3'
(R):5'- ACAAGTTCATCTTCCATTCGCACCG -3'
Sequencing Primer
(F):5'- CACTGGAATCACCGGGTAG -3'
(R):5'- CCATTCGCACCGCACAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation