Incidental Mutation 'R3960:Oasl2'
| ID |
312049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl2
|
| Ensembl Gene |
ENSMUSG00000029561 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 2 |
| Synonyms |
M1204, Mmu-OASL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3960 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115034997-115050295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115043098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031542]
[ENSMUST00000124716]
|
| AlphaFold |
Q9Z2F2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031542
AA Change: V290A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000031542
Gene: ENSMUSG00000029561
AA Change: V290A
| 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
AA Change: V70A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000115070
Gene: ENSMUSG00000029561
AA Change: V70A
| 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 |
noncoding transcript
Transcript: ENSMUST00000201445
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Hao1 |
A |
C |
2: 134,364,903 (GRCm39) |
|
probably null |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,136,909 (GRCm39) |
W564R |
probably damaging |
Het |
| Impg1 |
G |
T |
9: 80,322,917 (GRCm39) |
F29L |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,714,347 (GRCm39) |
V834A |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,131,262 (GRCm39) |
N1948D |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,813,925 (GRCm39) |
V17A |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,380,018 (GRCm39) |
N925D |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,749 (GRCm39) |
H21R |
probably benign |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Smarcd2 |
A |
G |
11: 106,157,401 (GRCm39) |
S182P |
probably damaging |
Het |
| Tbrg4 |
A |
G |
11: 6,568,077 (GRCm39) |
S484P |
probably benign |
Het |
| Tprkb |
A |
G |
6: 85,905,783 (GRCm39) |
E156G |
probably benign |
Het |
| Zfp647 |
A |
G |
15: 76,795,176 (GRCm39) |
|
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 |
|
|
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 |
|
|
R2882:Oasl2
|
UTSW |
5 |
115,049,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAACCTGAAAATTCCTAGAGCATC -3'
(R):5'- GGCCATACTTGGTGACTTGG -3'
Sequencing Primer
(F):5'- CCCAGTGCCTGAGACGTAAATATG -3'
(R):5'- GACTTGGTGACCCCTGAATG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation