Incidental Mutation 'IGL00954:Osgep'
ID 28967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osgep
Ensembl Gene ENSMUSG00000006289
Gene Name O-sialoglycoprotein endopeptidase
Synonyms PRSMG1, 1500019L24Rik, GCPL-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL00954
Quality Score
Status
Chromosome 14
Chromosomal Location 51152831-51162350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51153619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 320 (I320F)
Ref Sequence ENSEMBL: ENSMUSP00000125155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160393] [ENSMUST00000162177] [ENSMUST00000160890]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006452
SMART Domains Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 186 1.1e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157760
Predicted Effect probably benign
Transcript: ENSMUST00000159292
AA Change: I320F

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289
AA Change: I320F

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160375
SMART Domains Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 156 1.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160393
AA Change: I320F

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289
AA Change: I320F

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160464
Predicted Effect probably benign
Transcript: ENSMUST00000162177
AA Change: I239F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289
AA Change: I239F

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 220 1.1e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162850
Predicted Effect probably benign
Transcript: ENSMUST00000160890
SMART Domains Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 79 1.7e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,972,756 (GRCm39) probably benign Het
Alox5 A T 6: 116,431,260 (GRCm39) V56D probably damaging Het
Atp1a2 A G 1: 172,118,201 (GRCm39) S158P probably damaging Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
BC049715 A T 6: 136,817,093 (GRCm39) E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 (GRCm39) T1492K probably damaging Het
Cfap221 T C 1: 119,861,939 (GRCm39) E612G probably damaging Het
Cttnbp2 C A 6: 18,381,061 (GRCm39) K868N possibly damaging Het
Dpy19l2 T A 9: 24,494,114 (GRCm39) N672I probably damaging Het
Ei24 A T 9: 36,701,166 (GRCm39) I51N probably damaging Het
Gdi2 T C 13: 3,606,467 (GRCm39) V181A probably benign Het
Ggt1 G A 10: 75,420,697 (GRCm39) R354Q probably benign Het
Hao1 A G 2: 134,340,181 (GRCm39) I370T possibly damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Jag2 G T 12: 112,884,026 (GRCm39) S184R possibly damaging Het
Kctd16 A G 18: 40,391,853 (GRCm39) D147G probably benign Het
Kiss1r T C 10: 79,757,834 (GRCm39) L396P probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrrc66 G T 5: 73,765,741 (GRCm39) T434K possibly damaging Het
Macroh2a1 A G 13: 56,222,132 (GRCm39) S340P possibly damaging Het
Mcm5 A T 8: 75,836,740 (GRCm39) N64Y possibly damaging Het
Mroh2b A T 15: 4,932,536 (GRCm39) Y54F probably damaging Het
Or10al6 T A 17: 38,083,505 (GRCm39) N329K probably benign Het
Or7g18 T A 9: 18,787,369 (GRCm39) S249T probably benign Het
Pcdh18 T A 3: 49,710,838 (GRCm39) D159V probably damaging Het
Phf20l1 G A 15: 66,513,757 (GRCm39) V978I probably damaging Het
Phospho1 T A 11: 95,721,909 (GRCm39) V193E probably damaging Het
Pip4k2b T C 11: 97,635,331 (GRCm39) K34E probably damaging Het
Plb1 T C 5: 32,455,858 (GRCm39) probably benign Het
Safb2 A G 17: 56,885,639 (GRCm39) probably null Het
Sgsh T A 11: 119,237,311 (GRCm39) E434D probably benign Het
Tkt C T 14: 30,291,052 (GRCm39) H355Y probably damaging Het
Tmem128 A G 5: 38,419,389 (GRCm39) N47S probably damaging Het
Tmem232 A G 17: 65,807,148 (GRCm39) I15T probably damaging Het
Tns1 A C 1: 73,964,128 (GRCm39) V1501G probably damaging Het
Vmn2r24 G A 6: 123,792,596 (GRCm39) C641Y probably damaging Het
Vmn2r77 A G 7: 86,449,975 (GRCm39) T74A probably benign Het
Zfp820 T C 17: 22,038,860 (GRCm39) Y156C probably damaging Het
Other mutations in Osgep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:Osgep APN 14 51,157,407 (GRCm39) missense probably damaging 0.98
IGL02800:Osgep APN 14 51,153,314 (GRCm39) utr 3 prime probably benign
IGL03258:Osgep APN 14 51,155,346 (GRCm39) missense possibly damaging 0.65
R3104:Osgep UTSW 14 51,154,286 (GRCm39) missense probably benign 0.03
R3105:Osgep UTSW 14 51,154,286 (GRCm39) missense probably benign 0.03
R3106:Osgep UTSW 14 51,154,286 (GRCm39) missense probably benign 0.03
R3899:Osgep UTSW 14 51,162,200 (GRCm39) missense probably damaging 1.00
R4608:Osgep UTSW 14 51,155,378 (GRCm39) missense probably damaging 1.00
R5152:Osgep UTSW 14 51,155,315 (GRCm39) missense probably damaging 0.99
R6169:Osgep UTSW 14 51,157,209 (GRCm39) missense possibly damaging 0.88
R7009:Osgep UTSW 14 51,162,165 (GRCm39) missense probably damaging 0.98
R7873:Osgep UTSW 14 51,153,347 (GRCm39) missense probably damaging 0.99
R8054:Osgep UTSW 14 51,162,128 (GRCm39) unclassified probably benign
R8477:Osgep UTSW 14 51,155,334 (GRCm39) missense probably damaging 1.00
R9537:Osgep UTSW 14 51,162,119 (GRCm39) critical splice donor site probably null
Posted On 2013-04-17