Incidental Mutation 'R3103:Skor2'
| ID |
262928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skor2
|
| Ensembl Gene |
ENSMUSG00000091519 |
| Gene Name |
SKI family transcriptional corepressor 2 |
| Synonyms |
Corl2, Fussel18, Gm7348 |
| MMRRC Submission |
040577-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3103 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
76944100-76988037 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 76946973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 232
(K232*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166956]
|
| AlphaFold |
A7M7C7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000166956
AA Change: K232*
|
| SMART Domains |
Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: K232*
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
A |
G |
7: 28,310,409 (GRCm39) |
|
probably null |
Het |
| Adap2 |
G |
T |
11: 80,047,859 (GRCm39) |
C105F |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,223,201 (GRCm39) |
|
probably null |
Het |
| Bpifc |
A |
G |
10: 85,829,286 (GRCm39) |
S94P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,044,459 (GRCm39) |
D347G |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,219,018 (GRCm39) |
V613A |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,093,667 (GRCm39) |
H6R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,714,338 (GRCm39) |
T1956A |
probably benign |
Het |
| Cep128 |
T |
A |
12: 90,986,118 (GRCm39) |
D1006V |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,984,641 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,405 (GRCm39) |
V3153M |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,630,127 (GRCm39) |
E122G |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,868,166 (GRCm39) |
V333E |
probably damaging |
Het |
| Dmpk |
A |
G |
7: 18,821,579 (GRCm39) |
Y279C |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,239,292 (GRCm39) |
I111V |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,899,695 (GRCm39) |
P546T |
possibly damaging |
Het |
| Fat4 |
G |
T |
3: 38,946,089 (GRCm39) |
A1661S |
probably benign |
Het |
| Gcm1 |
A |
G |
9: 77,971,734 (GRCm39) |
N225S |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,072,082 (GRCm39) |
M242L |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,715,211 (GRCm39) |
R226G |
probably damaging |
Het |
| Gpr63 |
G |
A |
4: 25,007,353 (GRCm39) |
V26I |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,116,868 (GRCm39) |
L631P |
probably damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,484 (GRCm39) |
D135G |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,666,885 (GRCm39) |
V398F |
probably damaging |
Het |
| Ipp |
G |
T |
4: 116,381,446 (GRCm39) |
R315L |
possibly damaging |
Het |
| Kcmf1 |
A |
G |
6: 72,838,830 (GRCm39) |
L32P |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,617,805 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,262,328 (GRCm39) |
V4442I |
probably benign |
Het |
| Lrrfip2 |
A |
T |
9: 111,051,278 (GRCm39) |
E293D |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,274,713 (GRCm39) |
I29T |
probably damaging |
Het |
| Or1a1 |
G |
A |
11: 74,086,901 (GRCm39) |
D191N |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,574 (GRCm39) |
C109R |
possibly damaging |
Het |
| Or51h1 |
T |
C |
7: 102,308,688 (GRCm39) |
V220A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,485,373 (GRCm39) |
M842K |
possibly damaging |
Het |
| Ppt1 |
T |
C |
4: 122,730,100 (GRCm39) |
C18R |
probably benign |
Het |
| Pstpip2 |
T |
C |
18: 77,959,477 (GRCm39) |
Y191H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,774,373 (GRCm39) |
V2361I |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,305,338 (GRCm39) |
N238S |
probably benign |
Het |
| Slc13a5 |
A |
T |
11: 72,148,214 (GRCm39) |
W231R |
probably damaging |
Het |
| Svs5 |
A |
T |
2: 164,175,313 (GRCm39) |
E55V |
probably benign |
Het |
| Tfcp2 |
A |
T |
15: 100,423,481 (GRCm39) |
W142R |
probably damaging |
Het |
| Trpc2 |
A |
T |
7: 101,744,441 (GRCm39) |
I738F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,067 (GRCm39) |
S227T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,386 (GRCm39) |
T1540A |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,962,561 (GRCm39) |
T74A |
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 |
|
|
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'- GCTACTGCAACATGTACTTCTC -3'
(R):5'- AGGGAATCGTCATCGTCGTC -3'
Sequencing Primer
(F):5'- ATGTACTTCTCCCCCAACAAG -3'
(R):5'- CAGCTCAGCCAAGGGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation