Incidental Mutation 'IGL00754:Oosp1'
| ID |
12864 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oosp1
|
| Ensembl Gene |
ENSMUSG00000041857 |
| Gene Name |
oocyte secreted protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11644824-11668415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11645069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 198
(H198Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048214]
[ENSMUST00000139158]
[ENSMUST00000186557]
|
| AlphaFold |
Q925U0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048214
AA Change: H198Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036529
Gene: ENSMUSG00000041857
AA Change: H198Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139158
|
| SMART Domains |
Protein: ENSMUSP00000123469
Gene: ENSMUSG00000041857
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186557
|
| SMART Domains |
Protein: ENSMUSP00000139444
Gene: ENSMUSG00000041857
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,848,040 (GRCm39) |
G483R |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,150,968 (GRCm39) |
I816V |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,232 (GRCm39) |
Q77R |
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,386,649 (GRCm39) |
|
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,036 (GRCm39) |
M697V |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Chrnd |
A |
C |
1: 87,123,506 (GRCm39) |
E348A |
probably benign |
Het |
| Ctnnbl1 |
A |
T |
2: 157,661,461 (GRCm39) |
S324C |
possibly damaging |
Het |
| Dgkb |
C |
A |
12: 38,488,567 (GRCm39) |
N644K |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,051,697 (GRCm39) |
L1720* |
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,197,967 (GRCm39) |
|
probably benign |
Het |
| Eif1b |
G |
T |
9: 120,323,686 (GRCm39) |
C94F |
probably benign |
Het |
| Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,860,837 (GRCm39) |
G96R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,031,026 (GRCm39) |
V86A |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,389 (GRCm39) |
S131R |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,591,708 (GRCm39) |
T382A |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,659,741 (GRCm39) |
D1627G |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,092,221 (GRCm39) |
F406I |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,661,843 (GRCm39) |
L28S |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,026,645 (GRCm39) |
F1255L |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,616,559 (GRCm39) |
S73T |
probably benign |
Het |
| Tnip2 |
T |
C |
5: 34,656,643 (GRCm39) |
I221V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,429 (GRCm39) |
I8859T |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,348 (GRCm39) |
S907P |
possibly damaging |
Het |
| Utp25 |
G |
T |
1: 192,797,309 (GRCm39) |
N514K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,539,236 (GRCm39) |
V1927A |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,070,931 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Oosp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03403:Oosp1
|
APN |
19 |
11,664,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Oosp1
|
UTSW |
19 |
11,668,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0593:Oosp1
|
UTSW |
19 |
11,645,776 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1266:Oosp1
|
UTSW |
19 |
11,645,163 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1889:Oosp1
|
UTSW |
19 |
11,645,158 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2131:Oosp1
|
UTSW |
19 |
11,668,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4386:Oosp1
|
UTSW |
19 |
11,645,158 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4909:Oosp1
|
UTSW |
19 |
11,666,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6614:Oosp1
|
UTSW |
19 |
11,668,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Oosp1
|
UTSW |
19 |
11,645,774 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7522:Oosp1
|
UTSW |
19 |
11,666,065 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7828:Oosp1
|
UTSW |
19 |
11,668,369 (GRCm39) |
missense |
probably benign |
|
|
R8139:Oosp1
|
UTSW |
19 |
11,645,118 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9416:Oosp1
|
UTSW |
19 |
11,664,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9501:Oosp1
|
UTSW |
19 |
11,664,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation