Incidental Mutation 'IGL00656:Oas1d'
| ID |
13657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oas1d
|
| Ensembl Gene |
ENSMUSG00000032623 |
| Gene Name |
2'-5' oligoadenylate synthetase 1D |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121052881-121059711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121057270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 292
(Y292C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044224]
|
| AlphaFold |
Q8VI95 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044224
AA Change: Y292C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: Y292C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
Pfam:OAS1_C
|
168 |
353 |
9.4e-76 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asns |
A |
T |
6: 7,680,215 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,933,118 (GRCm39) |
I814V |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,493 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,359 (GRCm39) |
I232M |
possibly damaging |
Het |
| Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
| Dld |
A |
G |
12: 31,399,594 (GRCm39) |
|
probably null |
Het |
| Ibtk |
A |
G |
9: 85,599,598 (GRCm39) |
|
probably null |
Het |
| Lrp3 |
T |
C |
7: 34,905,453 (GRCm39) |
|
probably benign |
Het |
| Mmp27 |
A |
C |
9: 7,581,383 (GRCm39) |
T549P |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,086,609 (GRCm39) |
D205G |
probably damaging |
Het |
| Rbm39 |
A |
G |
2: 156,004,791 (GRCm39) |
V181A |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,721,982 (GRCm39) |
V1066A |
possibly damaging |
Het |
| Strbp |
T |
C |
2: 37,493,150 (GRCm39) |
|
probably benign |
Het |
| Tor1aip1 |
T |
C |
1: 155,907,213 (GRCm39) |
N187S |
probably benign |
Het |
| Ubqln3 |
T |
C |
7: 103,790,984 (GRCm39) |
T369A |
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,095,791 (GRCm39) |
A1242V |
probably null |
Het |
|
| Other mutations in Oas1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Oas1d
|
APN |
5 |
121,057,127 (GRCm39) |
nonsense |
probably null |
|
|
IGL01114:Oas1d
|
APN |
5 |
121,054,907 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02336:Oas1d
|
APN |
5 |
121,057,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Oas1d
|
APN |
5 |
121,058,071 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0080:Oas1d
|
UTSW |
5 |
121,054,955 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0388:Oas1d
|
UTSW |
5 |
121,055,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Oas1d
|
UTSW |
5 |
121,058,049 (GRCm39) |
missense |
probably benign |
|
|
R1344:Oas1d
|
UTSW |
5 |
121,052,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Oas1d
|
UTSW |
5 |
121,058,025 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1771:Oas1d
|
UTSW |
5 |
121,053,900 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3810:Oas1d
|
UTSW |
5 |
121,053,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4516:Oas1d
|
UTSW |
5 |
121,057,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Oas1d
|
UTSW |
5 |
121,054,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4819:Oas1d
|
UTSW |
5 |
121,053,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Oas1d
|
UTSW |
5 |
121,053,831 (GRCm39) |
missense |
probably benign |
|
|
R5199:Oas1d
|
UTSW |
5 |
121,057,208 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5392:Oas1d
|
UTSW |
5 |
121,055,003 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5695:Oas1d
|
UTSW |
5 |
121,053,074 (GRCm39) |
missense |
probably benign |
|
|
R5769:Oas1d
|
UTSW |
5 |
121,054,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Oas1d
|
UTSW |
5 |
121,057,244 (GRCm39) |
nonsense |
probably null |
|
|
R7276:Oas1d
|
UTSW |
5 |
121,054,944 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7446:Oas1d
|
UTSW |
5 |
121,058,054 (GRCm39) |
missense |
probably benign |
|
|
R7808:Oas1d
|
UTSW |
5 |
121,053,034 (GRCm39) |
nonsense |
probably null |
|
|
R7976:Oas1d
|
UTSW |
5 |
121,057,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Oas1d
|
UTSW |
5 |
121,057,221 (GRCm39) |
nonsense |
probably null |
|
|
R9446:Oas1d
|
UTSW |
5 |
121,054,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Oas1d
|
UTSW |
5 |
121,052,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation