Incidental Mutation 'R1237:Skor2'
ID |
152484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skor2
|
Ensembl Gene |
ENSMUSG00000091519 |
Gene Name |
SKI family transcriptional corepressor 2 |
Synonyms |
Corl2, Fussel18, Gm7348 |
MMRRC Submission |
039304-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1237 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
76944100-76988037 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 76963827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 924
(K924*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166956]
|
AlphaFold |
A7M7C7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000166956
AA Change: K924*
|
SMART Domains |
Protein: ENSMUSP00000132338 Gene: ENSMUSG00000091519 AA Change: K924*
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 |
0.9717 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
Amz1 |
A |
T |
5: 140,727,039 (GRCm39) |
M1L |
probably damaging |
Het |
Angptl1 |
T |
A |
1: 156,686,154 (GRCm39) |
N413K |
probably damaging |
Het |
Ankrd13b |
T |
C |
11: 77,365,400 (GRCm39) |
T70A |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccdc174 |
C |
T |
6: 91,867,768 (GRCm39) |
|
probably benign |
Het |
Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
Prf1 |
A |
C |
10: 61,139,428 (GRCm39) |
D462A |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,541,964 (GRCm39) |
D391G |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
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 |
|
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'- TCGAAGAAGTCGTACCTACCCATCC -3'
(R):5'- TCCTTACTGAAGACTGGGAAGGACG -3'
Sequencing Primer
(F):5'- AGGACATCACCGAGTCCTG -3'
(R):5'- AACCTTCTGAAGTTCCTCTAATGGG -3'
|
Posted On |
2014-01-29 |