Incidental Mutation 'R1279:Oas1a'
| ID |
150970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oas1a
|
| Ensembl Gene |
ENSMUSG00000052776 |
| Gene Name |
2'-5' oligoadenylate synthetase 1A |
| Synonyms |
L3 |
| MMRRC Submission |
039345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1279 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121034319-121045584 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 121035241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080322]
|
| AlphaFold |
P11928 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080322
|
| SMART Domains |
Protein: ENSMUSP00000079198
Gene: ENSMUSG00000052776
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,878,298 (GRCm39) |
M325K |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17305 |
TCTCCTCCTCCTCCTCCTCCTC |
TCTCCTCCTCCTCCTCCTC |
11: 69,260,175 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,503,722 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,591,660 (GRCm39) |
|
probably null |
Het |
| Oat |
A |
T |
7: 132,168,809 (GRCm39) |
L137H |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,435,300 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,678 (GRCm39) |
I181V |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Padi3 |
T |
C |
4: 140,530,888 (GRCm39) |
S45G |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,799,427 (GRCm39) |
S488P |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,046,524 (GRCm39) |
T873I |
probably benign |
Het |
| Ppp4r2 |
A |
T |
6: 100,842,879 (GRCm39) |
R176* |
probably null |
Het |
| Pramel51 |
C |
T |
12: 88,142,650 (GRCm39) |
V323M |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,508,146 (GRCm39) |
L932F |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,018,262 (GRCm39) |
A799S |
possibly damaging |
Het |
| Scn4a |
A |
T |
11: 106,226,508 (GRCm39) |
I684N |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,990 (GRCm39) |
F124L |
probably damaging |
Het |
| Tacr1 |
G |
T |
6: 82,534,164 (GRCm39) |
E397* |
probably null |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,934 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,895,941 (GRCm39) |
S232P |
probably damaging |
Het |
|
| Other mutations in Oas1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01822:Oas1a
|
APN |
5 |
121,037,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACAGCAGGATACATGTCCAG -3'
(R):5'- GCGTGATGCTAGGGAACTGATGATG -3'
Sequencing Primer
(F):5'- AGCAGGATACATGTCCAGTTCTC -3'
(R):5'- TGCTGTCCTGCAACTGAGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation