Incidental Mutation 'R1086:Skor2'
| ID |
85048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skor2
|
| Ensembl Gene |
ENSMUSG00000091519 |
| Gene Name |
SKI family transcriptional corepressor 2 |
| Synonyms |
Corl2, Fussel18, Gm7348 |
| MMRRC Submission |
039172-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
76944100-76988037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76946994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 239
(S239R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166956]
|
| AlphaFold |
A7M7C7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000166956
AA Change: S239R
|
| SMART Domains |
Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: S239R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
25 |
132 |
2.3e-41 |
PFAM |
|
c-SKI_SMAD_bind
|
144 |
236 |
6.92e-55 |
SMART |
|
low complexity region
|
261 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
857 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0896 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for null mutations display neonatal and postnatal lethality, abnormal cerebellum development, and abnormal Purkinje cell differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
| Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
| Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
| Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
| Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
| Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
| Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
| Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
| Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
| Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
| Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
| Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
| Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
| Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
| Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
probably damaging |
Het |
|
| Other mutations in Skor2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01476:Skor2
|
APN |
18 |
76,946,362 (GRCm39) |
missense |
unknown |
|
|
IGL01604:Skor2
|
APN |
18 |
76,947,646 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02306:Skor2
|
APN |
18 |
76,950,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03287:Skor2
|
APN |
18 |
76,963,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0225:Skor2
|
UTSW |
18 |
76,946,793 (GRCm39) |
missense |
unknown |
|
|
R0265:Skor2
|
UTSW |
18 |
76,964,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0650:Skor2
|
UTSW |
18 |
76,964,255 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1237:Skor2
|
UTSW |
18 |
76,963,827 (GRCm39) |
nonsense |
probably null |
|
|
R1465:Skor2
|
UTSW |
18 |
76,964,340 (GRCm39) |
splice site |
probably benign |
|
|
R1625:Skor2
|
UTSW |
18 |
76,946,499 (GRCm39) |
missense |
unknown |
|
|
R1682:Skor2
|
UTSW |
18 |
76,947,211 (GRCm39) |
missense |
unknown |
|
|
R1918:Skor2
|
UTSW |
18 |
76,947,051 (GRCm39) |
missense |
unknown |
|
|
R2878:Skor2
|
UTSW |
18 |
76,948,419 (GRCm39) |
nonsense |
probably null |
|
|
R3103:Skor2
|
UTSW |
18 |
76,946,973 (GRCm39) |
nonsense |
probably null |
|
|
R3611:Skor2
|
UTSW |
18 |
76,946,533 (GRCm39) |
missense |
unknown |
|
|
R3882:Skor2
|
UTSW |
18 |
76,950,384 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3891:Skor2
|
UTSW |
18 |
76,946,350 (GRCm39) |
missense |
unknown |
|
|
R4473:Skor2
|
UTSW |
18 |
76,947,156 (GRCm39) |
missense |
unknown |
|
|
R4720:Skor2
|
UTSW |
18 |
76,948,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4828:Skor2
|
UTSW |
18 |
76,948,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Skor2
|
UTSW |
18 |
76,947,990 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5074:Skor2
|
UTSW |
18 |
76,946,649 (GRCm39) |
nonsense |
probably null |
|
|
R5486:Skor2
|
UTSW |
18 |
76,946,395 (GRCm39) |
missense |
unknown |
|
|
R5729:Skor2
|
UTSW |
18 |
76,946,578 (GRCm39) |
missense |
unknown |
|
|
R5886:Skor2
|
UTSW |
18 |
76,947,124 (GRCm39) |
missense |
unknown |
|
|
R6017:Skor2
|
UTSW |
18 |
76,946,622 (GRCm39) |
missense |
unknown |
|
|
R6514:Skor2
|
UTSW |
18 |
76,950,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6565:Skor2
|
UTSW |
18 |
76,947,607 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6909:Skor2
|
UTSW |
18 |
76,948,252 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7169:Skor2
|
UTSW |
18 |
76,948,681 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7171:Skor2
|
UTSW |
18 |
76,948,681 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7188:Skor2
|
UTSW |
18 |
76,947,504 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7219:Skor2
|
UTSW |
18 |
76,948,096 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7548:Skor2
|
UTSW |
18 |
76,948,600 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7722:Skor2
|
UTSW |
18 |
76,950,339 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7923:Skor2
|
UTSW |
18 |
76,946,416 (GRCm39) |
missense |
unknown |
|
|
R8125:Skor2
|
UTSW |
18 |
76,947,373 (GRCm39) |
missense |
unknown |
|
|
R8255:Skor2
|
UTSW |
18 |
76,946,664 (GRCm39) |
missense |
unknown |
|
|
R8531:Skor2
|
UTSW |
18 |
76,946,569 (GRCm39) |
missense |
unknown |
|
|
R8548:Skor2
|
UTSW |
18 |
76,946,581 (GRCm39) |
missense |
unknown |
|
|
R8917:Skor2
|
UTSW |
18 |
76,948,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Skor2
|
UTSW |
18 |
76,948,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9445:Skor2
|
UTSW |
18 |
76,948,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9562:Skor2
|
UTSW |
18 |
76,946,376 (GRCm39) |
missense |
unknown |
|
|
R9563:Skor2
|
UTSW |
18 |
76,946,376 (GRCm39) |
missense |
unknown |
|
|
R9564:Skor2
|
UTSW |
18 |
76,946,376 (GRCm39) |
missense |
unknown |
|
|
R9565:Skor2
|
UTSW |
18 |
76,946,376 (GRCm39) |
missense |
unknown |
|
|
R9673:Skor2
|
UTSW |
18 |
76,946,376 (GRCm39) |
missense |
unknown |
|
|
RF015:Skor2
|
UTSW |
18 |
76,948,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Skor2
|
UTSW |
18 |
76,948,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Skor2
|
UTSW |
18 |
76,948,365 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Skor2
|
UTSW |
18 |
76,947,819 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Skor2
|
UTSW |
18 |
76,963,788 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCGCCAAGTGCATCAAGTGTAG -3'
(R):5'- AGGGAATCGTCATCGTCGTCGAAG -3'
Sequencing Primer
(F):5'- AGCTACTGCAACATGTACTTCTC -3'
(R):5'- TGATGGGCGTGAGGTGC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation