Incidental Mutation 'R2882:Oasl2'
| ID |
260344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl2
|
| Ensembl Gene |
ENSMUSG00000029561 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 2 |
| Synonyms |
M1204, Mmu-OASL |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115034997-115050295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115049084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 175
(R175C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031542]
[ENSMUST00000124716]
|
| AlphaFold |
Q9Z2F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031542
AA Change: R395C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031542
Gene: ENSMUSG00000029561
AA Change: R395C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
Pfam:OAS1_C
|
169 |
351 |
8.4e-77 |
PFAM |
|
SCOP:d1euvb_
|
355 |
427 |
4e-4 |
SMART |
|
Blast:UBQ
|
355 |
430 |
9e-30 |
BLAST |
|
UBQ
|
435 |
506 |
8.88e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124716
AA Change: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115070
Gene: ENSMUSG00000029561
AA Change: R175C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
1 |
131 |
1.2e-48 |
PFAM |
|
SCOP:d1euvb_
|
135 |
207 |
6e-5 |
SMART |
|
Blast:UBQ
|
135 |
210 |
9e-32 |
BLAST |
|
Blast:UBQ
|
215 |
240 |
5e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144064
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
Het |
|
| Other mutations in Oasl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02054:Oasl2
|
APN |
5 |
115,035,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Oasl2
|
APN |
5 |
115,035,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Oasl2
|
APN |
5 |
115,035,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03153:Oasl2
|
APN |
5 |
115,039,393 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0179:Oasl2
|
UTSW |
5 |
115,048,973 (GRCm39) |
missense |
probably benign |
|
|
R1318:Oasl2
|
UTSW |
5 |
115,039,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1831:Oasl2
|
UTSW |
5 |
115,039,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1941:Oasl2
|
UTSW |
5 |
115,049,423 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2068:Oasl2
|
UTSW |
5 |
115,049,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2104:Oasl2
|
UTSW |
5 |
115,049,063 (GRCm39) |
nonsense |
probably null |
|
|
R2170:Oasl2
|
UTSW |
5 |
115,044,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2437:Oasl2
|
UTSW |
5 |
115,049,357 (GRCm39) |
missense |
probably benign |
|
|
R3960:Oasl2
|
UTSW |
5 |
115,043,098 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3962:Oasl2
|
UTSW |
5 |
115,035,808 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4609:Oasl2
|
UTSW |
5 |
115,037,857 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4761:Oasl2
|
UTSW |
5 |
115,037,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5242:Oasl2
|
UTSW |
5 |
115,043,122 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5691:Oasl2
|
UTSW |
5 |
115,037,828 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6594:Oasl2
|
UTSW |
5 |
115,044,836 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7053:Oasl2
|
UTSW |
5 |
115,049,291 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7062:Oasl2
|
UTSW |
5 |
115,049,152 (GRCm39) |
nonsense |
probably null |
|
|
R7688:Oasl2
|
UTSW |
5 |
115,035,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7753:Oasl2
|
UTSW |
5 |
115,043,118 (GRCm39) |
missense |
probably benign |
|
|
R8026:Oasl2
|
UTSW |
5 |
115,040,329 (GRCm39) |
unclassified |
probably benign |
|
|
R8160:Oasl2
|
UTSW |
5 |
115,039,347 (GRCm39) |
unclassified |
probably benign |
|
|
R8479:Oasl2
|
UTSW |
5 |
115,035,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9429:Oasl2
|
UTSW |
5 |
115,043,040 (GRCm39) |
missense |
probably benign |
|
|
R9585:Oasl2
|
UTSW |
5 |
115,035,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCTCCCAGGTTGTCTTG -3'
(R):5'- ATGGTGAAAGGCTTGCTCTG -3'
Sequencing Primer
(F):5'- CCAGGTTGTCTTGGTAGATGATAAAC -3'
(R):5'- GGCTTGCTCTGGCCACC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation