Incidental Mutation 'R1318:Oasl2'
ID |
157599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oasl2
|
Ensembl Gene |
ENSMUSG00000029561 |
Gene Name |
2'-5' oligoadenylate synthetase-like 2 |
Synonyms |
M1204, Mmu-OASL |
MMRRC Submission |
039384-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1318 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
115034997-115050295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115039442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 210
(N210S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031542]
[ENSMUST00000124716]
[ENSMUST00000146072]
[ENSMUST00000150361]
|
AlphaFold |
Q9Z2F2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031542
AA Change: N210S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031542 Gene: ENSMUSG00000029561 AA Change: N210S
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 benign
Transcript: ENSMUST00000124716
|
SMART Domains |
Protein: ENSMUSP00000115070 Gene: ENSMUSG00000029561
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 |
noncoding transcript
Transcript: ENSMUST00000137828
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146072
|
SMART Domains |
Protein: ENSMUSP00000117795 Gene: ENSMUSG00000029561
Domain | Start | End | E-Value | Type |
PDB:1PX5|B
|
6 |
101 |
4e-10 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150361
|
SMART Domains |
Protein: ENSMUSP00000119042 Gene: ENSMUSG00000029561
Domain | Start | End | E-Value | Type |
PDB:1PX5|B
|
6 |
140 |
3e-13 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201919
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201445
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
T |
5: 8,751,621 (GRCm39) |
V334L |
probably benign |
Het |
Alms1 |
T |
G |
6: 85,605,531 (GRCm39) |
S1925A |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Comt |
G |
T |
16: 18,226,641 (GRCm39) |
D248E |
probably damaging |
Het |
Ctnna2 |
A |
C |
6: 76,859,773 (GRCm39) |
N874K |
probably damaging |
Het |
Dnah7b |
C |
T |
1: 46,138,669 (GRCm39) |
P237L |
possibly damaging |
Het |
Galnt4 |
T |
G |
10: 98,945,772 (GRCm39) |
V499G |
probably damaging |
Het |
Gh |
T |
C |
11: 106,191,923 (GRCm39) |
T96A |
probably benign |
Het |
Gng8 |
T |
C |
7: 16,629,161 (GRCm39) |
V29A |
probably damaging |
Het |
Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,040,972 (GRCm39) |
L1001P |
probably damaging |
Het |
Jph1 |
A |
C |
1: 17,067,714 (GRCm39) |
F658V |
probably damaging |
Het |
Kcnj3 |
A |
T |
2: 55,327,750 (GRCm39) |
M180L |
possibly damaging |
Het |
Ldb2 |
C |
T |
5: 44,692,379 (GRCm39) |
|
probably null |
Het |
Mettl2 |
C |
A |
11: 105,028,597 (GRCm39) |
Y316* |
probably null |
Het |
Mug2 |
G |
A |
6: 122,054,361 (GRCm39) |
V1047M |
probably damaging |
Het |
Mxra8 |
G |
T |
4: 155,925,956 (GRCm39) |
C140F |
probably damaging |
Het |
Mylip |
T |
C |
13: 45,559,401 (GRCm39) |
I101T |
probably benign |
Het |
Pclo |
A |
G |
5: 14,729,328 (GRCm39) |
|
probably benign |
Het |
Plaat3 |
T |
A |
19: 7,556,591 (GRCm39) |
|
probably null |
Het |
Rims2 |
G |
A |
15: 39,381,222 (GRCm39) |
R1051H |
probably damaging |
Het |
Rnf4 |
C |
A |
5: 34,508,590 (GRCm39) |
R151S |
probably damaging |
Het |
Serpina11 |
A |
T |
12: 103,952,777 (GRCm39) |
|
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,706,164 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
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 |
|
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 |
|
R2882:Oasl2
|
UTSW |
5 |
115,049,084 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACCAGTTAGTTTCTCCTCCCAGGAC -3'
(R):5'- TGTCACAAGATGCAGACGCTCTC -3'
Sequencing Primer
(F):5'- TCCCAGGACCTATTTCCAGAG -3'
(R):5'- ttgctgttgcggaggattg -3'
|
Posted On |
2014-02-18 |