Incidental Mutation 'R1266:Oosp1'
| ID |
151180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oosp1
|
| Ensembl Gene |
ENSMUSG00000041857 |
| Gene Name |
oocyte secreted protein 1 |
| Synonyms |
|
| MMRRC Submission |
039333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R1266 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11644824-11668415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11645163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 167
(H167R)
|
| 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: H167R
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036529
Gene: ENSMUSG00000041857
AA Change: H167R
| 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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
C |
A |
12: 8,056,093 (GRCm39) |
T1492N |
probably benign |
Het |
| Brix1 |
T |
C |
15: 10,478,847 (GRCm39) |
T191A |
probably damaging |
Het |
| C1qc |
A |
G |
4: 136,617,668 (GRCm39) |
S143P |
possibly damaging |
Het |
| Crim1 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 78,508,262 (GRCm39) |
|
probably benign |
Het |
| Defa22 |
G |
T |
8: 21,652,384 (GRCm39) |
V17F |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,888,169 (GRCm39) |
T439S |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
| Krtap19-9b |
A |
T |
16: 88,728,940 (GRCm39) |
S54T |
unknown |
Het |
| Ncor1 |
T |
C |
11: 62,224,866 (GRCm39) |
D798G |
probably damaging |
Het |
| Or5d16 |
A |
T |
2: 87,773,877 (GRCm39) |
L32M |
probably benign |
Het |
| Poln |
A |
T |
5: 34,290,453 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
T |
8: 47,046,734 (GRCm39) |
N187K |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,699,677 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,285,904 (GRCm39) |
T317A |
unknown |
Het |
| Sgo2b |
G |
A |
8: 64,381,455 (GRCm39) |
T459M |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zfp455 |
C |
T |
13: 67,355,028 (GRCm39) |
R99* |
probably null |
Het |
|
| Other mutations in Oosp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Oosp1
|
APN |
19 |
11,645,069 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGTAATTAGACACGGCACTAATGGG -3'
(R):5'- TGTCCTGGTGGACTAAAGACACATTTG -3'
Sequencing Primer
(F):5'- TTAAAAGCAGGGACAGCTCC -3'
(R):5'- cagagaagattaactgagtgggg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation