Incidental Mutation 'R5442:Oas1a'
ID |
501026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oas1a
|
Ensembl Gene |
ENSMUSG00000052776 |
Gene Name |
2'-5' oligoadenylate synthetase 1A |
Synonyms |
L3 |
MMRRC Submission |
043007-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5442 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121034319-121045584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121035269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 349
(T349A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080322]
|
AlphaFold |
P11928 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080322
AA Change: T349A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000079198 Gene: ENSMUSG00000052776 AA Change: T349A
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,909,594 (GRCm39) |
M114T |
probably benign |
Het |
Ablim3 |
A |
T |
18: 61,990,296 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,340,709 (GRCm39) |
D238G |
probably benign |
Het |
Astn2 |
G |
T |
4: 65,500,023 (GRCm39) |
S955R |
possibly damaging |
Het |
Casc3 |
A |
G |
11: 98,712,297 (GRCm39) |
E112G |
probably damaging |
Het |
Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
Commd4 |
A |
G |
9: 57,064,090 (GRCm39) |
V37A |
possibly damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,643 (GRCm39) |
Q205R |
possibly damaging |
Het |
Gal3st4 |
A |
G |
5: 138,264,042 (GRCm39) |
V319A |
possibly damaging |
Het |
Inpp5d |
G |
A |
1: 87,645,788 (GRCm39) |
A1058T |
probably benign |
Het |
Lpin3 |
A |
G |
2: 160,746,936 (GRCm39) |
Y781C |
probably damaging |
Het |
Lrat |
C |
T |
3: 82,810,527 (GRCm39) |
V165M |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,502,103 (GRCm39) |
S142P |
probably benign |
Het |
Or52e8 |
A |
T |
7: 104,624,435 (GRCm39) |
F252L |
possibly damaging |
Het |
Or5m3b |
T |
C |
2: 85,872,295 (GRCm39) |
V212A |
probably benign |
Het |
Or5v1 |
A |
T |
17: 37,810,330 (GRCm39) |
I263F |
probably damaging |
Het |
Or8c20 |
T |
A |
9: 38,261,158 (GRCm39) |
S260T |
probably benign |
Het |
Pakap |
C |
A |
4: 57,637,876 (GRCm39) |
P18Q |
probably null |
Het |
Pcdha2 |
T |
C |
18: 37,072,915 (GRCm39) |
V182A |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,784,254 (GRCm39) |
D26G |
probably benign |
Het |
Phrf1 |
G |
A |
7: 140,820,850 (GRCm39) |
R159H |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rab3ip |
T |
C |
10: 116,754,753 (GRCm39) |
T268A |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,656,742 (GRCm39) |
D299G |
probably damaging |
Het |
Rem1 |
A |
G |
2: 152,469,977 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
A |
G |
2: 122,317,350 (GRCm39) |
N36S |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,293,473 (GRCm39) |
M1286T |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,748,799 (GRCm39) |
T52A |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,793,872 (GRCm39) |
F390Y |
probably damaging |
Het |
Trio |
T |
C |
15: 27,856,280 (GRCm39) |
D696G |
probably benign |
Het |
Ttll11 |
T |
C |
2: 35,793,135 (GRCm39) |
*191W |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,135,083 (GRCm39) |
D805G |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,336,467 (GRCm39) |
I1469T |
possibly damaging |
Het |
Vmn1r70 |
G |
T |
7: 10,367,877 (GRCm39) |
A122S |
possibly damaging |
Het |
Vmn2r78 |
G |
T |
7: 86,569,330 (GRCm39) |
L74F |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 102,044,425 (GRCm39) |
E1860G |
probably benign |
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 |
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 |
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'- TCTTCTACCTGAGGATGGAGGG -3'
(R):5'- CAGATCTACTAATGAAGAAGGGCC -3'
Sequencing Primer
(F):5'- GAAGGTAGAGCATGGTCAAAACATC -3'
(R):5'- GGGGGTCTTATGTACCCTTAATGGC -3'
|
Posted On |
2017-12-01 |