Incidental Mutation 'R3891:Skor2'
| ID |
310419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skor2
|
| Ensembl Gene |
ENSMUSG00000091519 |
| Gene Name |
SKI family transcriptional corepressor 2 |
| Synonyms |
Corl2, Fussel18, Gm7348 |
| MMRRC Submission |
040803-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
76944100-76988037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76946350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 24
(D24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166956]
|
| AlphaFold |
A7M7C7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000166956
AA Change: D24G
|
| SMART Domains |
Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: D24G
| 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 |
0.2659 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
| C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
| Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
| Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
| Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
| Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
| Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
| Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
| Stard10 |
G |
A |
7: 100,993,137 (GRCm39) |
R231Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,857,651 (GRCm39) |
E49G |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
probably benign |
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 |
|
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'- CCCTCTGTCTTAAAACAGGAAAG -3'
(R):5'- AGTTGGACAGGTGTGCACTG -3'
Sequencing Primer
(F):5'- GGAAAGGTTCAAGTCAACTTTCTCC -3'
(R):5'- TGATGCCCAGAGCCACTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation