Incidental Mutation 'IGL01818:Oosp2'
| ID |
154444 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oosp2
|
| Ensembl Gene |
ENSMUSG00000055895 |
| Gene Name |
oocyte secreted protein 2 |
| Synonyms |
Plac1l, Tmem122, LOC225922 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL01818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11624648-11637923 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11627053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 90
(N90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121793]
[ENSMUST00000135994]
|
| AlphaFold |
Q4FZG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069681
AA Change: N90S
|
| SMART Domains |
Protein: ENSMUSP00000065120
Gene: ENSMUSG00000055895
AA Change: N90S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Zona_pellucida
|
30 |
165 |
7.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121793
AA Change: N90S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113931
Gene: ENSMUSG00000055895
AA Change: N90S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135994
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,294,018 (GRCm39) |
D35G |
probably benign |
Het |
| C3ar1 |
T |
C |
6: 122,827,378 (GRCm39) |
N280D |
probably benign |
Het |
| Ccpg1 |
A |
G |
9: 72,904,735 (GRCm39) |
T15A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,956,616 (GRCm39) |
V361A |
probably damaging |
Het |
| Dnmbp |
T |
A |
19: 43,889,604 (GRCm39) |
K721M |
probably damaging |
Het |
| Elmod3 |
T |
C |
6: 72,563,490 (GRCm39) |
E46G |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,660,701 (GRCm39) |
D7G |
unknown |
Het |
| H2-T24 |
C |
A |
17: 36,328,128 (GRCm39) |
|
probably benign |
Het |
| Hal |
A |
T |
10: 93,326,846 (GRCm39) |
T161S |
probably damaging |
Het |
| Htr1d |
A |
G |
4: 136,170,197 (GRCm39) |
E142G |
probably benign |
Het |
| Minar1 |
T |
C |
9: 89,483,366 (GRCm39) |
E677G |
probably damaging |
Het |
| Mrps31 |
T |
C |
8: 22,901,483 (GRCm39) |
M1T |
probably null |
Het |
| Nckap1l |
T |
C |
15: 103,386,709 (GRCm39) |
L628P |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 72,003,077 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
T |
1: 171,108,318 (GRCm39) |
I6K |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,805,766 (GRCm39) |
Q690K |
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,190,437 (GRCm39) |
I564T |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,664,592 (GRCm39) |
I539F |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,095,594 (GRCm39) |
R35G |
possibly damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,267 (GRCm39) |
C343S |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,891,838 (GRCm39) |
L736S |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,109 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Oosp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Oosp2
|
APN |
19 |
11,624,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:Oosp2
|
APN |
19 |
11,628,847 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02484:Oosp2
|
APN |
19 |
11,628,847 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03358:Oosp2
|
APN |
19 |
11,628,933 (GRCm39) |
nonsense |
probably null |
|
|
R0938:Oosp2
|
UTSW |
19 |
11,628,904 (GRCm39) |
nonsense |
probably null |
|
|
R1867:Oosp2
|
UTSW |
19 |
11,626,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1944:Oosp2
|
UTSW |
19 |
11,626,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1945:Oosp2
|
UTSW |
19 |
11,626,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2149:Oosp2
|
UTSW |
19 |
11,626,978 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Oosp2
|
UTSW |
19 |
11,627,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4684:Oosp2
|
UTSW |
19 |
11,627,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5034:Oosp2
|
UTSW |
19 |
11,628,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6034:Oosp2
|
UTSW |
19 |
11,628,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Oosp2
|
UTSW |
19 |
11,628,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Oosp2
|
UTSW |
19 |
11,628,994 (GRCm39) |
missense |
|
|
|
| Posted On |
2014-02-04 |
Incidental Mutation