Incidental Mutation 'IGL01660:Oas2'
| ID |
103135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oas2
|
| Ensembl Gene |
ENSMUSG00000032690 |
| Gene Name |
2'-5' oligoadenylate synthetase 2 |
| Synonyms |
2'-5' oligoadenylate synthetase-like 11, Oasl11 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL01660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120868398-120887918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120879288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 351
(T351A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053909]
[ENSMUST00000081491]
|
| AlphaFold |
E9Q9A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053909
AA Change: T351A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000060082
Gene: ENSMUSG00000032690
AA Change: T351A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
|
Pfam:OAS1_C
|
190 |
378 |
5.6e-75 |
PFAM |
|
Pfam:NTP_transf_2
|
412 |
516 |
4e-9 |
PFAM |
|
Pfam:OAS1_C
|
533 |
724 |
3.2e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081491
AA Change: T351A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080209
Gene: ENSMUSG00000032690
AA Change: T351A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
|
Pfam:OAS1_C
|
191 |
376 |
1.9e-77 |
PFAM |
|
Pfam:NTP_transf_2
|
412 |
516 |
1.3e-10 |
PFAM |
|
Pfam:OAS1_C
|
534 |
722 |
2.6e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146101
|
| SMART Domains |
Protein: ENSMUSP00000122053
Gene: ENSMUSG00000032690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
45 |
233 |
2.8e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201095
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. [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 |
|---|
| Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
| Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
| Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
| Dars1 |
A |
G |
1: 128,343,081 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
| Fut8 |
T |
G |
12: 77,497,032 (GRCm39) |
L414* |
probably null |
Het |
| Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
| Gpat4 |
A |
T |
8: 23,665,354 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
| Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,194 (GRCm39) |
I258N |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
| Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
| Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
| Pga5 |
A |
G |
19: 10,652,456 (GRCm39) |
S95P |
probably damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
| Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
| Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,102,144 (GRCm39) |
Q770* |
probably null |
Het |
| Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
| Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
probably damaging |
Het |
|
| Other mutations in Oas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Oas2
|
APN |
5 |
120,876,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00784:Oas2
|
APN |
5 |
120,876,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01388:Oas2
|
APN |
5 |
120,886,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01643:Oas2
|
APN |
5 |
120,874,252 (GRCm39) |
splice site |
probably benign |
|
|
IGL02346:Oas2
|
APN |
5 |
120,874,153 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02403:Oas2
|
APN |
5 |
120,886,815 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03297:Oas2
|
APN |
5 |
120,873,150 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0149:Oas2
|
UTSW |
5 |
120,876,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0344:Oas2
|
UTSW |
5 |
120,881,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Oas2
|
UTSW |
5 |
120,876,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0387:Oas2
|
UTSW |
5 |
120,883,737 (GRCm39) |
splice site |
probably benign |
|
|
R0465:Oas2
|
UTSW |
5 |
120,873,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2100:Oas2
|
UTSW |
5 |
120,883,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2324:Oas2
|
UTSW |
5 |
120,881,339 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2496:Oas2
|
UTSW |
5 |
120,886,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4357:Oas2
|
UTSW |
5 |
120,876,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4466:Oas2
|
UTSW |
5 |
120,887,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4472:Oas2
|
UTSW |
5 |
120,879,220 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4632:Oas2
|
UTSW |
5 |
120,871,546 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4714:Oas2
|
UTSW |
5 |
120,871,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Oas2
|
UTSW |
5 |
120,876,411 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4872:Oas2
|
UTSW |
5 |
120,876,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5629:Oas2
|
UTSW |
5 |
120,876,516 (GRCm39) |
nonsense |
probably null |
|
|
R6351:Oas2
|
UTSW |
5 |
120,886,603 (GRCm39) |
missense |
probably benign |
|
|
R6463:Oas2
|
UTSW |
5 |
120,873,046 (GRCm39) |
missense |
probably null |
1.00 |
|
R6488:Oas2
|
UTSW |
5 |
120,876,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Oas2
|
UTSW |
5 |
120,876,863 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6945:Oas2
|
UTSW |
5 |
120,874,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Oas2
|
UTSW |
5 |
120,876,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Oas2
|
UTSW |
5 |
120,887,775 (GRCm39) |
missense |
unknown |
|
|
R7634:Oas2
|
UTSW |
5 |
120,871,293 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7639:Oas2
|
UTSW |
5 |
120,883,751 (GRCm39) |
nonsense |
probably null |
|
|
R7958:Oas2
|
UTSW |
5 |
120,886,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7968:Oas2
|
UTSW |
5 |
120,876,437 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8158:Oas2
|
UTSW |
5 |
120,887,838 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8915:Oas2
|
UTSW |
5 |
120,876,449 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9266:Oas2
|
UTSW |
5 |
120,887,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Oas2
|
UTSW |
5 |
120,887,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation