Incidental Mutation 'IGL01822:Oas1a'
| ID |
154563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oas1a
|
| Ensembl Gene |
ENSMUSG00000052776 |
| Gene Name |
2'-5' oligoadenylate synthetase 1A |
| Synonyms |
L3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121034319-121045584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121037277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 250
(E250G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080322]
|
| AlphaFold |
P11928 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080322
AA Change: E250G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000079198
Gene: ENSMUSG00000052776
AA Change: E250G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transf_2
|
38 |
139 |
9.8e-14 |
PFAM |
|
Pfam:OAS1_C
|
164 |
349 |
1.9e-87 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cald1 |
A |
T |
6: 34,730,507 (GRCm39) |
T269S |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,362,700 (GRCm39) |
I351N |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,399,236 (GRCm39) |
I296N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,972,819 (GRCm39) |
F2038S |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,789,626 (GRCm39) |
L303P |
probably damaging |
Het |
| Fabp12 |
G |
A |
3: 10,311,082 (GRCm39) |
R127* |
probably null |
Het |
| Fgf12 |
A |
T |
16: 28,008,351 (GRCm39) |
S150T |
possibly damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,270,741 (GRCm39) |
M32T |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,787,311 (GRCm39) |
T13I |
probably benign |
Het |
| Mmgt2 |
T |
C |
11: 62,555,832 (GRCm39) |
V60A |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,148,758 (GRCm39) |
S2596R |
possibly damaging |
Het |
| Nfkbib |
T |
C |
7: 28,461,134 (GRCm39) |
D171G |
probably benign |
Het |
| Or2n1 |
C |
A |
17: 38,486,339 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,136 (GRCm39) |
I269N |
probably benign |
Het |
| Rnf182 |
T |
C |
13: 43,821,508 (GRCm39) |
C20R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,325,608 (GRCm39) |
K970E |
probably damaging |
Het |
| Slc30a2 |
T |
A |
4: 134,075,948 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,100 (GRCm39) |
C10S |
probably null |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,130 (GRCm39) |
H850L |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,307,991 (GRCm39) |
Y749C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,410,433 (GRCm39) |
C336S |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,843,205 (GRCm39) |
R287Q |
probably damaging |
Het |
|
| Other mutations in Oas1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02299:Oas1a
|
APN |
5 |
121,043,755 (GRCm39) |
missense |
probably benign |
|
|
IGL02951:Oas1a
|
APN |
5 |
121,043,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Oas1a
|
APN |
5 |
121,036,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03230:Oas1a
|
APN |
5 |
121,036,419 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03356:Oas1a
|
APN |
5 |
121,043,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03379:Oas1a
|
APN |
5 |
121,035,062 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0625:Oas1a
|
UTSW |
5 |
121,037,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1279:Oas1a
|
UTSW |
5 |
121,035,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1914:Oas1a
|
UTSW |
5 |
121,043,876 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1915:Oas1a
|
UTSW |
5 |
121,043,876 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4758:Oas1a
|
UTSW |
5 |
121,045,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Oas1a
|
UTSW |
5 |
121,043,787 (GRCm39) |
missense |
probably benign |
|
|
R5267:Oas1a
|
UTSW |
5 |
121,037,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5442:Oas1a
|
UTSW |
5 |
121,035,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5487:Oas1a
|
UTSW |
5 |
121,045,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Oas1a
|
UTSW |
5 |
121,045,491 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6880:Oas1a
|
UTSW |
5 |
121,040,003 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7953:Oas1a
|
UTSW |
5 |
121,035,080 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8043:Oas1a
|
UTSW |
5 |
121,035,080 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8363:Oas1a
|
UTSW |
5 |
121,043,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Oas1a
|
UTSW |
5 |
121,040,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8863:Oas1a
|
UTSW |
5 |
121,043,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Oas1a
|
UTSW |
5 |
121,037,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Oas1a
|
UTSW |
5 |
121,037,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Oas1a
|
UTSW |
5 |
121,040,028 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1177:Oas1a
|
UTSW |
5 |
121,039,958 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2014-02-04 |
Incidental Mutation