Incidental Mutation 'R5486:Skor2'
| ID |
430391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skor2
|
| Ensembl Gene |
ENSMUSG00000091519 |
| Gene Name |
SKI family transcriptional corepressor 2 |
| Synonyms |
Corl2, Fussel18, Gm7348 |
| MMRRC Submission |
043047-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
76944100-76988037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76946395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 39
(N39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166956]
|
| AlphaFold |
A7M7C7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000166956
AA Change: N39S
|
| SMART Domains |
Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: N39S
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
| Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
| Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
| Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
| Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
| Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
| Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
| Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
| Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
| Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
| Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
| Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
| Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
| Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
| Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
probably null |
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 |
|
R1086:Skor2
|
UTSW |
18 |
76,946,994 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- CCCCTCTGTCTTAAAACAGGAAAGG -3'
(R):5'- AGTTGGACAGGTGTGCACTG -3'
Sequencing Primer
(F):5'- GGAAAGGTTCAAGTCAACTTTCTCC -3'
(R):5'- TGAGAAGAGTGTTGGAGATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation