Incidental Mutation 'IGL02810:Oasl2'
| ID |
360550 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115034997-115050295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115035852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 43
(F43I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031542]
[ENSMUST00000124716]
[ENSMUST00000146072]
[ENSMUST00000150361]
|
| AlphaFold |
Q9Z2F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031542
AA Change: F43I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031542
Gene: ENSMUSG00000029561
AA Change: F43I
| 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: ENSMUST00000137828
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146072
AA Change: F43I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117795
Gene: ENSMUSG00000029561
AA Change: F43I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1PX5|B
|
6 |
101 |
4e-10 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150361
AA Change: F43I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119042
Gene: ENSMUSG00000029561
AA Change: F43I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1PX5|B
|
6 |
140 |
3e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201919
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
| Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
| Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
| Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
| Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
| Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
| Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,990,997 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation