Incidental Mutation 'IGL00583:Oas1e'
| ID |
13658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oas1e
|
| Ensembl Gene |
ENSMUSG00000066867 |
| Gene Name |
2'-5' oligoadenylate synthetase 1E |
| Synonyms |
2'-5' oligoadenylate synthetase-like 7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL00583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120924377-120933595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120932337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 102
(E102V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100785]
[ENSMUST00000200786]
[ENSMUST00000201172]
|
| AlphaFold |
A0A0J9YV76 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100785
AA Change: E102V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098348
Gene: ENSMUSG00000066867
AA Change: E102V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
168 |
353 |
4.3e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200786
|
| SMART Domains |
Protein: ENSMUSP00000144442
Gene: ENSMUSG00000066867
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1PX5|B
|
4 |
60 |
4e-14 |
PDB |
|
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201006
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201172
AA Change: E102V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144529
Gene: ENSMUSG00000066867
AA Change: E102V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
168 |
353 |
2.7e-71 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
C |
T |
13: 104,433,726 (GRCm39) |
Q52* |
probably null |
Het |
| Ambp |
G |
T |
4: 63,072,255 (GRCm39) |
A13D |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,923,077 (GRCm39) |
T283A |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,094,205 (GRCm39) |
|
probably benign |
Het |
| Borcs8 |
A |
G |
8: 70,597,757 (GRCm39) |
H93R |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,494 (GRCm39) |
|
probably benign |
Het |
| Cd200 |
A |
C |
16: 45,217,472 (GRCm39) |
I73R |
probably damaging |
Het |
| Coq8a |
T |
C |
1: 179,995,954 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
A |
6: 108,832,520 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
C |
T |
17: 44,396,088 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,544,464 (GRCm39) |
E41G |
unknown |
Het |
| Gls2 |
A |
G |
10: 128,040,751 (GRCm39) |
M340V |
probably benign |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Golph3l |
T |
C |
3: 95,496,414 (GRCm39) |
L46P |
possibly damaging |
Het |
| Limch1 |
T |
C |
5: 67,111,022 (GRCm39) |
I83T |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,060,852 (GRCm39) |
I190M |
possibly damaging |
Het |
| Mefv |
T |
A |
16: 3,533,936 (GRCm39) |
K112* |
probably null |
Het |
| Pde6a |
T |
C |
18: 61,390,339 (GRCm39) |
C521R |
probably damaging |
Het |
| Pigw |
A |
G |
11: 84,768,714 (GRCm39) |
V205A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Shprh |
C |
T |
10: 11,063,764 (GRCm39) |
T1279I |
probably benign |
Het |
| Slc11a2 |
T |
C |
15: 100,295,618 (GRCm39) |
E501G |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,856,905 (GRCm39) |
Y5F |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,658,326 (GRCm39) |
L31P |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,671,906 (GRCm39) |
Q779* |
probably null |
Het |
| U2surp |
T |
A |
9: 95,343,577 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Oas1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02072:Oas1e
|
APN |
5 |
120,929,846 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02652:Oas1e
|
APN |
5 |
120,933,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Oas1e
|
UTSW |
5 |
120,933,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0242:Oas1e
|
UTSW |
5 |
120,929,839 (GRCm39) |
splice site |
probably benign |
|
|
R0325:Oas1e
|
UTSW |
5 |
120,933,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Oas1e
|
UTSW |
5 |
120,926,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3438:Oas1e
|
UTSW |
5 |
120,933,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Oas1e
|
UTSW |
5 |
120,933,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Oas1e
|
UTSW |
5 |
120,932,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Oas1e
|
UTSW |
5 |
120,933,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5095:Oas1e
|
UTSW |
5 |
120,932,329 (GRCm39) |
nonsense |
probably null |
|
|
R5327:Oas1e
|
UTSW |
5 |
120,930,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Oas1e
|
UTSW |
5 |
120,930,015 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5909:Oas1e
|
UTSW |
5 |
120,926,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6503:Oas1e
|
UTSW |
5 |
120,926,042 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7167:Oas1e
|
UTSW |
5 |
120,933,487 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7515:Oas1e
|
UTSW |
5 |
120,929,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Oas1e
|
UTSW |
5 |
120,927,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8114:Oas1e
|
UTSW |
5 |
120,924,708 (GRCm39) |
missense |
unknown |
|
|
R8133:Oas1e
|
UTSW |
5 |
120,926,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Oas1e
|
UTSW |
5 |
120,925,008 (GRCm39) |
splice site |
probably null |
|
|
R8710:Oas1e
|
UTSW |
5 |
120,930,027 (GRCm39) |
nonsense |
probably null |
|
|
R9667:Oas1e
|
UTSW |
5 |
120,932,347 (GRCm39) |
missense |
probably benign |
0.28 |
|
RF020:Oas1e
|
UTSW |
5 |
120,932,383 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2012-12-06 |
Incidental Mutation