Incidental Mutation 'R6791:Skor1'
ID |
532594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skor1
|
Ensembl Gene |
ENSMUSG00000022245 |
Gene Name |
SKI family transcriptional corepressor 1 |
Synonyms |
Corl1, Lbxcor1, C230094B15Rik |
MMRRC Submission |
044904-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.444)
|
Stock # |
R6791 (G1)
|
Quality Score |
179.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
63045452-63056243 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 63047636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055281]
[ENSMUST00000116613]
[ENSMUST00000119146]
|
AlphaFold |
Q8BX46 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055281
|
SMART Domains |
Protein: ENSMUSP00000055037 Gene: ENSMUSG00000022245
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 null
Transcript: ENSMUST00000116613
|
SMART Domains |
Protein: ENSMUSP00000112312 Gene: ENSMUSG00000022245
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 null
Transcript: ENSMUST00000119146
|
SMART Domains |
Protein: ENSMUSP00000113924 Gene: ENSMUSG00000022245
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
Atp12a |
G |
A |
14: 56,624,439 (GRCm39) |
|
probably null |
Het |
AW551984 |
T |
G |
9: 39,511,955 (GRCm39) |
S19R |
probably damaging |
Het |
Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,571,428 (GRCm39) |
S1022P |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,716,678 (GRCm39) |
I521T |
probably benign |
Het |
Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
Spart |
G |
A |
3: 55,034,982 (GRCm39) |
G456D |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,633,860 (GRCm39) |
I616T |
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 |
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'- CTGTGCAAATTGATTAAGTGAGAGCTG -3'
(R):5'- ACTCAGGTGTCAGGACTGTTG -3'
Sequencing Primer
(F):5'- TGTTAAGCACAGCCTCCTC -3'
(R):5'- ACTGTTGGCCAGGACAGAC -3'
|
Posted On |
2018-08-29 |