Incidental Mutation 'IGL02006:Oosp3'
ID183195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oosp3
Ensembl Gene ENSMUSG00000055933
Gene Nameoocyte secreted protein 3
SynonymsLOC225923, Gm97
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.325) question?
Stock #IGL02006
Quality Score
Status
Chromosome19
Chromosomal Location11697055-11711874 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 11699420 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 48 (L48F)
Ref Sequence ENSEMBL: ENSMUSP00000064913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069760] [ENSMUST00000119053]
Predicted Effect probably damaging
Transcript: ENSMUST00000069760
AA Change: L48F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064913
Gene: ENSMUSG00000055933
AA Change: L48F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:3EF7|B 25 118 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000119053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190477
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,199,345 G182S probably damaging Het
Akr1b7 A T 6: 34,415,450 N66I probably benign Het
Arrdc3 T A 13: 80,883,774 I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 A316E probably damaging Het
Atp8a2 A G 14: 59,857,048 V847A possibly damaging Het
Ccdc171 A G 4: 83,795,242 N1173D possibly damaging Het
Crb2 A C 2: 37,786,463 D152A probably damaging Het
Ecm1 T C 3: 95,734,244 E559G probably damaging Het
Ephb1 A G 9: 102,194,772 probably null Het
Fndc11 C A 2: 181,222,091 R230S probably damaging Het
Frem1 A G 4: 82,992,800 probably null Het
Fyco1 G A 9: 123,829,831 Q427* probably null Het
Gm17541 A G 12: 4,689,619 probably benign Het
Gm5431 C T 11: 48,888,503 V809M probably damaging Het
Gm7293 A G 9: 51,622,743 noncoding transcript Het
Ift52 T C 2: 163,023,369 S47P probably benign Het
Iqcf6 A G 9: 106,627,311 D58G probably benign Het
Itm2b T C 14: 73,363,048 probably benign Het
Jakmip1 T C 5: 37,120,987 I536T probably damaging Het
Kcnh1 T G 1: 192,191,015 M3R possibly damaging Het
Kcnh5 G T 12: 74,897,548 P976T probably damaging Het
Layn G A 9: 51,057,291 probably benign Het
Lrrc37a T A 11: 103,456,491 Q3126L probably damaging Het
Meioc A T 11: 102,674,266 D180V probably damaging Het
Myo15 T A 11: 60,511,128 C3066S probably damaging Het
Nbeal1 T C 1: 60,272,259 probably null Het
Negr1 T C 3: 157,016,173 probably benign Het
Nek1 T A 8: 61,104,192 N940K probably benign Het
Nfkbib A T 7: 28,766,242 probably null Het
Nol4 T A 18: 22,921,918 T152S probably damaging Het
Oas3 G T 5: 120,769,235 R446S probably benign Het
Olfr225 T C 11: 59,613,159 L65P probably damaging Het
Olfr457 A G 6: 42,472,091 V29A probably benign Het
Pik3ap1 C A 19: 41,302,593 W500L probably benign Het
Ppih A G 4: 119,311,582 probably benign Het
Slc7a15 T C 12: 8,535,508 probably null Het
Srl T C 16: 4,497,286 E164G probably benign Het
Tbx10 C A 19: 3,998,186 T237K probably damaging Het
Trove2 G T 1: 143,760,346 probably benign Het
Vwa5b2 T C 16: 20,597,093 V392A probably damaging Het
Wfdc5 A T 2: 164,182,563 probably benign Het
Xirp2 T C 2: 67,511,962 F1516L possibly damaging Het
Znfx1 A G 2: 167,055,763 C414R probably damaging Het
Other mutations in Oosp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Oosp3 APN 19 11711640 missense probably benign 0.03
IGL01959:Oosp3 APN 19 11700922 missense probably benign 0.00
IGL02231:Oosp3 APN 19 11699439 missense probably damaging 0.99
IGL02836:Oosp3 APN 19 11700968 missense probably benign 0.03
R1669:Oosp3 UTSW 19 11701014 splice site probably benign
R2045:Oosp3 UTSW 19 11699369 missense probably benign 0.03
R2852:Oosp3 UTSW 19 11699532 critical splice donor site probably null
R4820:Oosp3 UTSW 19 11711633 missense probably damaging 0.97
R5030:Oosp3 UTSW 19 11700944 missense probably benign 0.02
R5524:Oosp3 UTSW 19 11705430 missense possibly damaging 0.66
R5641:Oosp3 UTSW 19 11697173 critical splice donor site probably null
R5933:Oosp3 UTSW 19 11705389 missense probably benign 0.07
R7018:Oosp3 UTSW 19 11699419 missense probably benign 0.00
R7585:Oosp3 UTSW 19 11700958 missense probably benign 0.00
Posted On2014-05-07