Incidental Mutation 'IGL02652:Oas1e'
ID |
302188 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oas1e
|
Ensembl Gene |
ENSMUSG00000066867 |
Gene Name |
2'-5' oligoadenylate synthetase 1E |
Synonyms |
2'-5' oligoadenylate synthetase-like 7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02652
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
120924377-120933595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120933470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 32
(R32G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100785]
[ENSMUST00000117193]
[ENSMUST00000200786]
[ENSMUST00000201172]
|
AlphaFold |
A0A0J9YV76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100785
AA Change: R32G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000098348 Gene: ENSMUSG00000066867 AA Change: R32G
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
168 |
353 |
4.3e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117193
|
SMART Domains |
Protein: ENSMUSP00000112584 Gene: ENSMUSG00000001166
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
168 |
354 |
1.4e-76 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200786
AA Change: R32G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144442 Gene: ENSMUSG00000066867 AA Change: R32G
Domain | Start | End | E-Value | Type |
PDB:1PX5|B
|
4 |
60 |
4e-14 |
PDB |
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201006
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201172
AA Change: R32G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144529 Gene: ENSMUSG00000066867 AA Change: R32G
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
168 |
353 |
2.7e-71 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
A |
T |
17: 68,191,795 (GRCm39) |
D139E |
probably benign |
Het |
Asph |
C |
T |
4: 9,529,984 (GRCm39) |
V347I |
probably benign |
Het |
Ccdc138 |
A |
T |
10: 58,348,901 (GRCm39) |
D149V |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,991,921 (GRCm39) |
|
probably benign |
Het |
Cnnm2 |
G |
A |
19: 46,751,650 (GRCm39) |
R480Q |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,198,056 (GRCm39) |
S1321* |
probably null |
Het |
Cops6 |
T |
G |
5: 138,159,700 (GRCm39) |
|
probably null |
Het |
Crim1 |
G |
A |
17: 78,623,106 (GRCm39) |
A435T |
probably damaging |
Het |
Cttn |
G |
T |
7: 143,995,468 (GRCm39) |
Q382K |
probably benign |
Het |
Dhx38 |
A |
G |
8: 110,282,761 (GRCm39) |
L635P |
probably damaging |
Het |
Dmtf1 |
T |
A |
5: 9,171,853 (GRCm39) |
T458S |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,366,333 (GRCm39) |
F2682S |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,072,087 (GRCm39) |
Q2413L |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,561 (GRCm39) |
|
probably null |
Het |
Engase |
C |
T |
11: 118,369,776 (GRCm39) |
P63S |
probably damaging |
Het |
Grik4 |
A |
G |
9: 42,586,573 (GRCm39) |
V94A |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,660,558 (GRCm39) |
V566A |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
Inpp4b |
G |
A |
8: 82,497,429 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,643,190 (GRCm39) |
E863G |
probably benign |
Het |
Muc19 |
T |
A |
15: 91,762,009 (GRCm39) |
|
noncoding transcript |
Het |
Myo9a |
T |
A |
9: 59,771,211 (GRCm39) |
F928I |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,219,435 (GRCm39) |
Y486H |
probably damaging |
Het |
Or14j2 |
A |
T |
17: 37,885,836 (GRCm39) |
Y159* |
probably null |
Het |
Or4k48 |
A |
G |
2: 111,475,839 (GRCm39) |
F168L |
probably benign |
Het |
Osbpl6 |
G |
A |
2: 76,423,798 (GRCm39) |
R848Q |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,157,546 (GRCm39) |
T2388I |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,207,435 (GRCm39) |
K308E |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,701,236 (GRCm39) |
L441P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,805,668 (GRCm39) |
|
probably null |
Het |
Scn2a |
T |
A |
2: 65,532,382 (GRCm39) |
S665T |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,911,357 (GRCm39) |
I926V |
probably damaging |
Het |
Snrpg |
T |
C |
6: 86,353,510 (GRCm39) |
I30T |
probably damaging |
Het |
Spryd3 |
A |
T |
15: 102,027,425 (GRCm39) |
|
probably null |
Het |
Svil |
A |
G |
18: 5,114,531 (GRCm39) |
D2036G |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,067,868 (GRCm39) |
I551F |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,489,971 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,864,639 (GRCm39) |
F915S |
probably damaging |
Het |
Try5 |
C |
A |
6: 41,288,342 (GRCm39) |
V204L |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,749 (GRCm39) |
T362A |
probably benign |
Het |
|
Other mutations in Oas1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00583:Oas1e
|
APN |
5 |
120,932,337 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:Oas1e
|
APN |
5 |
120,929,846 (GRCm39) |
critical splice donor site |
probably null |
|
R0049:Oas1e
|
UTSW |
5 |
120,933,395 (GRCm39) |
missense |
probably benign |
0.01 |
R0242:Oas1e
|
UTSW |
5 |
120,929,839 (GRCm39) |
splice site |
probably benign |
|
R0325:Oas1e
|
UTSW |
5 |
120,933,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R1528:Oas1e
|
UTSW |
5 |
120,926,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R3438:Oas1e
|
UTSW |
5 |
120,933,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R3790:Oas1e
|
UTSW |
5 |
120,933,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R3963:Oas1e
|
UTSW |
5 |
120,932,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4811:Oas1e
|
UTSW |
5 |
120,933,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R5095:Oas1e
|
UTSW |
5 |
120,932,329 (GRCm39) |
nonsense |
probably null |
|
R5327:Oas1e
|
UTSW |
5 |
120,930,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Oas1e
|
UTSW |
5 |
120,930,015 (GRCm39) |
missense |
probably benign |
0.13 |
R5909:Oas1e
|
UTSW |
5 |
120,926,972 (GRCm39) |
missense |
probably damaging |
0.98 |
R6503:Oas1e
|
UTSW |
5 |
120,926,042 (GRCm39) |
missense |
probably benign |
0.39 |
R7167:Oas1e
|
UTSW |
5 |
120,933,487 (GRCm39) |
missense |
probably benign |
0.35 |
R7515:Oas1e
|
UTSW |
5 |
120,929,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R7563:Oas1e
|
UTSW |
5 |
120,927,021 (GRCm39) |
missense |
probably benign |
0.00 |
R8114:Oas1e
|
UTSW |
5 |
120,924,708 (GRCm39) |
missense |
unknown |
|
R8133:Oas1e
|
UTSW |
5 |
120,926,060 (GRCm39) |
missense |
probably benign |
0.00 |
R8351:Oas1e
|
UTSW |
5 |
120,925,008 (GRCm39) |
splice site |
probably null |
|
R8710:Oas1e
|
UTSW |
5 |
120,930,027 (GRCm39) |
nonsense |
probably null |
|
R9667:Oas1e
|
UTSW |
5 |
120,932,347 (GRCm39) |
missense |
probably benign |
0.28 |
RF020:Oas1e
|
UTSW |
5 |
120,932,383 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Posted On |
2015-04-16 |