Incidental Mutation 'IGL01114:Oas1d'
| ID |
51130 |
| 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 # |
IGL01114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121052881-121059711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121054907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 160
(V160I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044224]
|
| AlphaFold |
Q8VI95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044224
AA Change: V160I
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048054
Gene: ENSMUSG00000032623
AA Change: V160I
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700101I19Rik |
T |
C |
1: 34,618,370 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
G |
7: 119,960,643 (GRCm39) |
Y702D |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,754,088 (GRCm39) |
K1576R |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,905,711 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,895,202 (GRCm39) |
I1098V |
probably benign |
Het |
| Adcy6 |
C |
T |
15: 98,496,857 (GRCm39) |
V471M |
probably damaging |
Het |
| Ccdc170 |
C |
A |
10: 4,508,550 (GRCm39) |
D591E |
probably benign |
Het |
| Corin |
A |
C |
5: 72,462,354 (GRCm39) |
D826E |
probably damaging |
Het |
| Cpsf2 |
T |
G |
12: 101,956,098 (GRCm39) |
N300K |
possibly damaging |
Het |
| Csmd2 |
C |
T |
4: 128,262,923 (GRCm39) |
T703I |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,139 (GRCm39) |
L187Q |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,088,511 (GRCm39) |
S155* |
probably null |
Het |
| Dmrtc2 |
C |
T |
7: 24,572,001 (GRCm39) |
P32L |
probably damaging |
Het |
| Dsel |
G |
A |
1: 111,787,791 (GRCm39) |
R915* |
probably null |
Het |
| Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Fam171b |
G |
A |
2: 83,707,072 (GRCm39) |
W314* |
probably null |
Het |
| Gpn1 |
G |
T |
5: 31,655,745 (GRCm39) |
D103Y |
probably damaging |
Het |
| Gpr89 |
A |
T |
3: 96,800,865 (GRCm39) |
F88I |
probably damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,403,792 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,493 (GRCm39) |
Y122H |
probably damaging |
Het |
| Or5b108 |
A |
G |
19: 13,168,598 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or7e170 |
A |
T |
9: 19,794,844 (GRCm39) |
Y252* |
probably null |
Het |
| Poglut3 |
T |
C |
9: 53,299,879 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
C |
T |
17: 32,271,793 (GRCm39) |
P288S |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,133 (GRCm39) |
K360R |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,498 (GRCm39) |
D818G |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,934,213 (GRCm39) |
D1291G |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,088,096 (GRCm39) |
V814M |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,592,196 (GRCm39) |
V17A |
probably benign |
Het |
|
| Other mutations in Oas1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Oas1d
|
APN |
5 |
121,057,270 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01062:Oas1d
|
APN |
5 |
121,057,127 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-06-21 |
Incidental Mutation