Incidental Mutation 'R6909:Skor2'
| ID |
538959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skor2
|
| Ensembl Gene |
ENSMUSG00000091519 |
| Gene Name |
SKI family transcriptional corepressor 2 |
| Synonyms |
Corl2, Fussel18, Gm7348 |
| MMRRC Submission |
045001-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6909 (G1)
|
| Quality Score |
135.008 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
76944100-76988037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76948252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 658
(H658R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166956]
|
| AlphaFold |
A7M7C7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166956
AA Change: H658R
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: H658R
| 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 |
0.0825 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,006,323 (GRCm39) |
Q1261K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,178,164 (GRCm39) |
Y329C |
probably damaging |
Het |
| Agrn |
G |
T |
4: 156,261,464 (GRCm39) |
H585N |
possibly damaging |
Het |
| Ano1 |
G |
A |
7: 144,209,468 (GRCm39) |
T211M |
probably damaging |
Het |
| Atic |
T |
G |
1: 71,616,005 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,957,781 (GRCm39) |
S229R |
probably damaging |
Het |
| Ccdc168 |
C |
T |
1: 44,098,935 (GRCm39) |
R721Q |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,192 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,425,815 (GRCm39) |
Y418C |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,168,309 (GRCm39) |
T97A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,760 (GRCm39) |
T2443A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,169,920 (GRCm39) |
E1772V |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,472,899 (GRCm39) |
L107* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,191,429 (GRCm39) |
F233L |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,067,918 (GRCm39) |
V188E |
unknown |
Het |
| Gm45861 |
T |
A |
8: 28,017,109 (GRCm39) |
Y690N |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,543,383 (GRCm39) |
C224* |
probably null |
Het |
| Gucy2d |
T |
A |
7: 98,116,832 (GRCm39) |
Y881N |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
G |
T |
12: 51,810,945 (GRCm39) |
|
probably null |
Het |
| Ifitm5 |
A |
G |
7: 140,529,172 (GRCm39) |
F146L |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,024,947 (GRCm39) |
F18S |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,812 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,569,915 (GRCm39) |
H1109R |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,960,381 (GRCm39) |
|
probably null |
Het |
| Klra8 |
T |
G |
6: 130,102,123 (GRCm39) |
N104T |
probably benign |
Het |
| Llgl2 |
G |
A |
11: 115,741,625 (GRCm39) |
C585Y |
probably damaging |
Het |
| Lmod2 |
T |
A |
6: 24,604,157 (GRCm39) |
D377E |
probably benign |
Het |
| Lrat |
G |
A |
3: 82,810,961 (GRCm39) |
S20F |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,638,482 (GRCm39) |
H363Q |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,960 (GRCm39) |
I3340S |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,674,301 (GRCm39) |
G948W |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,489,872 (GRCm39) |
F520V |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,446,561 (GRCm39) |
N607K |
probably damaging |
Het |
| Mta3 |
T |
C |
17: 84,073,980 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ncor1 |
C |
A |
11: 62,220,312 (GRCm39) |
G2131V |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,959 (GRCm39) |
H189R |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,372 (GRCm39) |
V256E |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,034 (GRCm39) |
S313P |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,622 (GRCm39) |
I126L |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,479 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,809,041 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,856 (GRCm39) |
I1671T |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,604 (GRCm39) |
S622T |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,785,506 (GRCm39) |
R192C |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,655 (GRCm39) |
S2P |
possibly damaging |
Het |
| Slc37a4 |
A |
T |
9: 44,311,331 (GRCm39) |
K207N |
possibly damaging |
Het |
| Syne2 |
G |
T |
12: 76,110,969 (GRCm39) |
V5768L |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,772 (GRCm39) |
V149E |
probably damaging |
Het |
| Tekt5 |
T |
C |
16: 10,176,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Tk2 |
G |
T |
8: 104,963,442 (GRCm39) |
Y142* |
probably null |
Het |
| Tkfc |
T |
A |
19: 10,573,630 (GRCm39) |
Q236L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,299,814 (GRCm39) |
T148I |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,778,021 (GRCm39) |
D20G |
probably damaging |
Het |
| Tspan14 |
A |
C |
14: 40,635,398 (GRCm39) |
V166G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,712,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,519,861 (GRCm39) |
T406A |
possibly 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 |
|
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 |
|
|
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 |
|
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'- CAGAGCAAGGAGTGACGTCC -3'
(R):5'- TCAGAGCTGTCCTCACTGG -3'
Sequencing Primer
(F):5'- CAAGGAGTGACGTCCGGGAC -3'
(R):5'- AGAGCTGTCCTCACTGGGGTAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation