Incidental Mutation 'IGL01931:Oas1c'
| ID |
180424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oas1c
|
| Ensembl Gene |
ENSMUSG00000001166 |
| Gene Name |
2'-5' oligoadenylate synthetase 1C |
| Synonyms |
Oasl5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120938259-120950579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120943560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 193
(I193S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117193]
[ENSMUST00000125547]
|
| AlphaFold |
Q924S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117193
AA Change: I193S
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112584
Gene: ENSMUSG00000001166
AA Change: I193S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
168 |
354 |
1.4e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130045
|
| SMART Domains |
Protein: ENSMUSP00000122510
Gene: ENSMUSG00000001166
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
89 |
146 |
3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201006
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
A |
G |
7: 124,917,869 (GRCm39) |
E87G |
unknown |
Het |
| Ano2 |
A |
G |
6: 125,959,708 (GRCm39) |
Y656C |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,310 (GRCm39) |
S27P |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,861 (GRCm39) |
N2580I |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,860,625 (GRCm39) |
L667P |
probably damaging |
Het |
| Col16a1 |
T |
C |
4: 129,966,634 (GRCm39) |
C555R |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,114,973 (GRCm39) |
V162A |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,207 (GRCm39) |
S3669L |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm4922 |
A |
G |
10: 18,660,042 (GRCm39) |
S227P |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,144,736 (GRCm39) |
F597L |
probably damaging |
Het |
| Hook3 |
G |
A |
8: 26,578,083 (GRCm39) |
|
probably benign |
Het |
| Ltv1 |
A |
G |
10: 13,061,245 (GRCm39) |
I106T |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,123 (GRCm39) |
V501A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,386,964 (GRCm39) |
C667S |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,950 (GRCm39) |
V840A |
probably benign |
Het |
| Naip1 |
G |
T |
13: 100,545,540 (GRCm39) |
C1329* |
probably null |
Het |
| Osbp2 |
C |
T |
11: 3,655,388 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,154,509 (GRCm39) |
|
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ppox |
T |
C |
1: 171,105,456 (GRCm39) |
Q302R |
probably null |
Het |
| Sec24b |
G |
A |
3: 129,803,448 (GRCm39) |
P305S |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,148,705 (GRCm39) |
I923F |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,504,098 (GRCm39) |
V352E |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,789,603 (GRCm39) |
V152A |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdfy4 |
C |
T |
14: 32,877,710 (GRCm39) |
G85S |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,159,310 (GRCm39) |
T139A |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,315,270 (GRCm39) |
H89R |
probably benign |
Het |
|
| Other mutations in Oas1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Oas1c
|
APN |
5 |
120,946,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01472:Oas1c
|
APN |
5 |
120,940,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Oas1c
|
APN |
5 |
120,940,133 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02498:Oas1c
|
APN |
5 |
120,943,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02696:Oas1c
|
APN |
5 |
120,943,528 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02957:Oas1c
|
APN |
5 |
120,943,478 (GRCm39) |
nonsense |
probably null |
|
|
sandshrew
|
UTSW |
5 |
120,946,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0562:Oas1c
|
UTSW |
5 |
120,943,669 (GRCm39) |
splice site |
probably benign |
|
|
R1819:Oas1c
|
UTSW |
5 |
120,946,800 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1853:Oas1c
|
UTSW |
5 |
120,946,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Oas1c
|
UTSW |
5 |
120,941,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2248:Oas1c
|
UTSW |
5 |
120,940,926 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2258:Oas1c
|
UTSW |
5 |
120,941,082 (GRCm39) |
missense |
probably null |
1.00 |
|
R2570:Oas1c
|
UTSW |
5 |
120,943,503 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3965:Oas1c
|
UTSW |
5 |
120,946,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Oas1c
|
UTSW |
5 |
120,946,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5146:Oas1c
|
UTSW |
5 |
120,940,159 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5875:Oas1c
|
UTSW |
5 |
120,943,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Oas1c
|
UTSW |
5 |
120,943,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7219:Oas1c
|
UTSW |
5 |
120,940,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Oas1c
|
UTSW |
5 |
120,943,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Oas1c
|
UTSW |
5 |
120,940,207 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7578:Oas1c
|
UTSW |
5 |
120,940,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Oas1c
|
UTSW |
5 |
120,939,107 (GRCm39) |
missense |
probably benign |
|
|
R8891:Oas1c
|
UTSW |
5 |
120,946,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9013:Oas1c
|
UTSW |
5 |
120,943,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Oas1c
|
UTSW |
5 |
120,946,202 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9588:Oas1c
|
UTSW |
5 |
120,946,202 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Posted On |
2014-05-07 |
Incidental Mutation