Incidental Mutation 'R5392:Oas1d'
ID |
425897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oas1d
|
Ensembl Gene |
ENSMUSG00000032623 |
Gene Name |
2'-5' oligoadenylate synthetase 1D |
Synonyms |
|
MMRRC Submission |
042964-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5392 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121052881-121059711 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121055003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 192
(S192P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044224]
|
AlphaFold |
Q8VI95 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044224
AA Change: S192P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048054 Gene: ENSMUSG00000032623 AA Change: S192P
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
C |
2: 127,852,088 (GRCm39) |
|
probably null |
Het |
Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
Cpa5 |
C |
T |
6: 30,630,829 (GRCm39) |
Q364* |
probably null |
Het |
Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
Kdsr |
T |
A |
1: 106,680,971 (GRCm39) |
I76F |
possibly damaging |
Het |
Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
Or6c76 |
A |
G |
10: 129,612,184 (GRCm39) |
I149V |
probably benign |
Het |
Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
Rad9b |
A |
T |
5: 122,489,641 (GRCm39) |
C25S |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,671,759 (GRCm39) |
D179G |
probably damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGATTGTGACCCTAGAGG -3'
(R):5'- TCCCTTAATGATCTGTGCGG -3'
Sequencing Primer
(F):5'- CCCTAGAGGTACAGGAGACTCTTAG -3'
(R):5'- CCAAGGTAGTGTGCAGAATTCCTC -3'
|
Posted On |
2016-08-04 |