Incidental Mutation 'R0938:Oosp2'
ID |
81273 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oosp2
|
Ensembl Gene |
ENSMUSG00000055895 |
Gene Name |
oocyte secreted protein 2 |
Synonyms |
Plac1l, Tmem122, LOC225922 |
MMRRC Submission |
039077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R0938 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11624648-11637923 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 11628904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 66
(Q66*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121793]
[ENSMUST00000135994]
|
AlphaFold |
Q4FZG8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069681
AA Change: Q66*
|
SMART Domains |
Protein: ENSMUSP00000065120 Gene: ENSMUSG00000055895 AA Change: Q66*
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 null
Transcript: ENSMUST00000121793
AA Change: Q66*
|
SMART Domains |
Protein: ENSMUSP00000113931 Gene: ENSMUSG00000055895 AA Change: Q66*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135994
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
Chfr |
T |
C |
5: 110,311,924 (GRCm39) |
L579P |
probably damaging |
Het |
Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
Dazap1 |
T |
C |
10: 80,116,795 (GRCm39) |
S165P |
possibly damaging |
Het |
Dlx2 |
C |
A |
2: 71,375,012 (GRCm39) |
W284L |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
Fhl2 |
A |
G |
1: 43,180,866 (GRCm39) |
I108T |
possibly damaging |
Het |
Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
Mob1b |
T |
A |
5: 88,897,452 (GRCm39) |
I120N |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
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 |
IGL01818:Oosp2
|
APN |
19 |
11,627,053 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02484:Oosp2
|
APN |
19 |
11,628,847 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03358:Oosp2
|
APN |
19 |
11,628,933 (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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGGTGATCTGGAGCGTTAGAAGC -3'
(R):5'- GCTCCTTCTTGAAGTTAATGCACACTTG -3'
Sequencing Primer
(F):5'- tccaagcacccacatcag -3'
(R):5'- GTTAATGCACACTTGACATTTTCTC -3'
|
Posted On |
2013-11-07 |