Incidental Mutation 'R8399:Skor1'
ID |
647776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skor1
|
Ensembl Gene |
ENSMUSG00000022245 |
Gene Name |
SKI family transcriptional corepressor 1 |
Synonyms |
Corl1, Lbxcor1, C230094B15Rik |
MMRRC Submission |
067762-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.444)
|
Stock # |
R8399 (G1)
|
Quality Score |
224.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 63052440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 510
(V510I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055281]
[ENSMUST00000116613]
[ENSMUST00000119146]
|
AlphaFold |
Q8BX46 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055281
AA Change: V510I
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000055037 Gene: ENSMUSG00000022245 AA Change: V510I
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 |
possibly damaging
Transcript: ENSMUST00000116613
AA Change: V471I
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112312 Gene: ENSMUSG00000022245 AA Change: V471I
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: V482I
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113924 Gene: ENSMUSG00000022245 AA Change: V482I
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,637,289 (GRCm39) |
V3384D |
possibly damaging |
Het |
Apba3 |
C |
A |
10: 81,104,832 (GRCm39) |
T35N |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,791,698 (GRCm39) |
M219V |
probably benign |
Het |
Bco2 |
T |
A |
9: 50,452,418 (GRCm39) |
T217S |
probably benign |
Het |
C1s1 |
C |
T |
6: 124,512,252 (GRCm39) |
V277I |
probably benign |
Het |
Ccdc162 |
T |
A |
10: 41,415,517 (GRCm39) |
R2149W |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,692,115 (GRCm39) |
F46L |
probably benign |
Het |
Chpf |
T |
C |
1: 75,452,864 (GRCm39) |
I359V |
probably benign |
Het |
Chrnb4 |
A |
C |
9: 54,951,107 (GRCm39) |
L52R |
probably benign |
Het |
Cox6a1 |
T |
C |
5: 115,483,958 (GRCm39) |
T95A |
probably damaging |
Het |
Def8 |
T |
A |
8: 124,182,238 (GRCm39) |
Y197* |
probably null |
Het |
Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
Dnaaf3 |
C |
T |
7: 4,526,936 (GRCm39) |
|
probably null |
Het |
Dnm1l |
T |
A |
16: 16,139,536 (GRCm39) |
H484L |
probably damaging |
Het |
Eml1 |
G |
A |
12: 108,504,390 (GRCm39) |
S783N |
possibly damaging |
Het |
Frmd4a |
T |
C |
2: 4,577,244 (GRCm39) |
S367P |
probably damaging |
Het |
Hck |
A |
C |
2: 152,980,237 (GRCm39) |
K355N |
probably damaging |
Het |
Hexim2 |
G |
T |
11: 103,029,329 (GRCm39) |
R127L |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,178 (GRCm39) |
L1592P |
possibly damaging |
Het |
Htr1d |
G |
A |
4: 136,170,686 (GRCm39) |
G305E |
probably damaging |
Het |
Ifi207 |
G |
A |
1: 173,557,844 (GRCm39) |
S298L |
unknown |
Het |
Ighv1-11 |
A |
G |
12: 114,576,047 (GRCm39) |
V56A |
possibly damaging |
Het |
Ighv7-1 |
G |
A |
12: 113,860,532 (GRCm39) |
T12I |
unknown |
Het |
Kctd14 |
T |
C |
7: 97,106,811 (GRCm39) |
L22P |
probably damaging |
Het |
Klra17 |
T |
C |
6: 129,851,900 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
Maf |
T |
A |
8: 116,433,251 (GRCm39) |
I118F |
unknown |
Het |
Mppe1 |
T |
C |
18: 67,358,946 (GRCm39) |
T341A |
probably benign |
Het |
Mtmr2 |
T |
A |
9: 13,703,363 (GRCm39) |
V186E |
probably benign |
Het |
Nedd9 |
G |
T |
13: 41,471,950 (GRCm39) |
Y176* |
probably null |
Het |
Omd |
A |
G |
13: 49,743,345 (GRCm39) |
I132V |
possibly damaging |
Het |
Or12e10 |
A |
C |
2: 87,640,568 (GRCm39) |
M135L |
probably damaging |
Het |
Or4a39 |
T |
C |
2: 89,237,028 (GRCm39) |
T132A |
probably benign |
Het |
Pcnx4 |
T |
A |
12: 72,620,985 (GRCm39) |
M935K |
probably benign |
Het |
Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
Plcg2 |
T |
C |
8: 118,323,101 (GRCm39) |
Y719H |
probably damaging |
Het |
Plk4 |
C |
T |
3: 40,763,265 (GRCm39) |
R479* |
probably null |
Het |
Pms1 |
T |
A |
1: 53,307,091 (GRCm39) |
|
probably null |
Het |
Raph1 |
C |
T |
1: 60,528,477 (GRCm39) |
S928N |
unknown |
Het |
Rtp4 |
G |
T |
16: 23,339,164 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
C |
7: 117,789,794 (GRCm39) |
T699A |
unknown |
Het |
Tcp11l1 |
T |
C |
2: 104,515,720 (GRCm39) |
D381G |
probably benign |
Het |
Tnik |
T |
A |
3: 28,548,159 (GRCm39) |
M56K |
unknown |
Het |
Trappc9 |
G |
A |
15: 72,924,131 (GRCm39) |
R204C |
probably damaging |
Het |
Trmt10b |
A |
T |
4: 45,305,870 (GRCm39) |
M184L |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,640,011 (GRCm39) |
I196N |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,689 (GRCm39) |
C104* |
probably null |
Het |
Vmn2r35 |
A |
C |
7: 7,819,897 (GRCm39) |
S124R |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,957,486 (GRCm39) |
E547G |
probably damaging |
Het |
Zfp68 |
A |
T |
5: 138,606,082 (GRCm39) |
D80E |
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 |
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 |
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'- ATCCTTAACTACGGGTCGGAAGG -3'
(R):5'- GCACAATGTTCTGGGGACATC -3'
Sequencing Primer
(F):5'- AGGCTGACACGTAGGAGCTTTTG -3'
(R):5'- AATGTTCTGGGGACATCAACCTTC -3'
|
Posted On |
2020-09-02 |