Incidental Mutation 'IGL00770:Osgepl1'
ID 277882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osgepl1
Ensembl Gene ENSMUSG00000026096
Gene Name O-sialoglycoprotein endopeptidase-like 1
Synonyms MGC13061, 2610001M19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL00770
Quality Score
Status
Chromosome 1
Chromosomal Location 53352783-53365502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53359405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 305 (I305V)
Ref Sequence ENSEMBL: ENSMUSP00000137994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027265] [ENSMUST00000114484] [ENSMUST00000135614] [ENSMUST00000151296] [ENSMUST00000190734]
AlphaFold Q6PEB4
Predicted Effect probably benign
Transcript: ENSMUST00000027265
AA Change: I305V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: I305V

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114484
AA Change: I305V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: I305V

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135614
AA Change: I305V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096
AA Change: I305V

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 7.6e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150115
Predicted Effect probably benign
Transcript: ENSMUST00000151296
SMART Domains Protein: ENSMUSP00000137772
Gene: ENSMUSG00000026096

DomainStartEndE-ValueType
SCOP:d1huxa_ 37 63 4e-8 SMART
PDB:3ZEU|E 39 72 1e-5 PDB
low complexity region 78 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153939
Predicted Effect probably benign
Transcript: ENSMUST00000190734
SMART Domains Protein: ENSMUSP00000141087
Gene: ENSMUSG00000100679

DomainStartEndE-ValueType
Pfam:ORMDL 11 123 4.4e-38 PFAM
Pfam:Peptidase_M22 174 233 3.9e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,306,776 (GRCm39) A1397T possibly damaging Het
Aldob A G 4: 49,536,843 (GRCm39) S349P probably benign Het
Cd2 A T 3: 101,190,345 (GRCm39) probably null Het
Cmtm2a A G 8: 105,019,562 (GRCm39) S43P probably damaging Het
Cts6 T C 13: 61,346,153 (GRCm39) probably benign Het
E2f3 A T 13: 30,102,687 (GRCm39) D68E probably damaging Het
Ect2 G A 3: 27,152,592 (GRCm39) R869W probably damaging Het
Eml1 A G 12: 108,480,774 (GRCm39) probably null Het
Fundc1 T A X: 17,424,252 (GRCm39) probably null Het
Gabrb1 G T 5: 72,265,789 (GRCm39) probably null Het
Lrrk2 T G 15: 91,686,036 (GRCm39) probably benign Het
Map3k2 C T 18: 32,361,292 (GRCm39) P584L probably benign Het
Mindy2 T C 9: 70,538,315 (GRCm39) D340G probably benign Het
Nav3 T C 10: 109,652,124 (GRCm39) D877G probably damaging Het
Nol9 T C 4: 152,136,472 (GRCm39) S515P probably benign Het
Pign A G 1: 105,525,481 (GRCm39) V449A probably benign Het
Rad54b G A 4: 11,593,765 (GRCm39) R131K probably benign Het
Rgl3 A T 9: 21,899,018 (GRCm39) probably benign Het
Scn2a A G 2: 65,566,197 (GRCm39) D1407G probably damaging Het
Sf3b3 A T 8: 111,544,270 (GRCm39) I790N probably damaging Het
Srebf1 C T 11: 60,095,965 (GRCm39) R358Q probably damaging Het
Tmem18 A G 12: 30,638,720 (GRCm39) R133G unknown Het
Tnfrsf11b T G 15: 54,117,468 (GRCm39) R262S probably benign Het
Tsc1 A T 2: 28,555,023 (GRCm39) H171L probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Wdcp A G 12: 4,905,303 (GRCm39) E608G probably damaging Het
Other mutations in Osgepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00774:Osgepl1 APN 1 53,359,405 (GRCm39) missense probably benign 0.07
IGL02672:Osgepl1 APN 1 53,359,270 (GRCm39) missense probably benign
IGL02932:Osgepl1 APN 1 53,360,675 (GRCm39) missense probably benign 0.01
IGL03269:Osgepl1 APN 1 53,360,271 (GRCm39) nonsense probably null
H8562:Osgepl1 UTSW 1 53,354,198 (GRCm39) missense probably damaging 1.00
R0100:Osgepl1 UTSW 1 53,362,372 (GRCm39) missense probably damaging 0.99
R0100:Osgepl1 UTSW 1 53,362,372 (GRCm39) missense probably damaging 0.99
R0519:Osgepl1 UTSW 1 53,360,255 (GRCm39) missense probably damaging 1.00
R0739:Osgepl1 UTSW 1 53,362,354 (GRCm39) nonsense probably null
R1724:Osgepl1 UTSW 1 53,357,062 (GRCm39) missense probably benign 0.06
R3793:Osgepl1 UTSW 1 53,359,406 (GRCm39) missense probably damaging 0.97
R4214:Osgepl1 UTSW 1 53,354,167 (GRCm39) missense probably damaging 1.00
R5009:Osgepl1 UTSW 1 53,357,339 (GRCm39) missense probably damaging 1.00
R5721:Osgepl1 UTSW 1 53,360,359 (GRCm39) missense possibly damaging 0.88
R5890:Osgepl1 UTSW 1 53,357,326 (GRCm39) missense probably damaging 1.00
R6479:Osgepl1 UTSW 1 53,360,702 (GRCm39) missense probably benign 0.00
R7046:Osgepl1 UTSW 1 53,360,710 (GRCm39) missense possibly damaging 0.87
R8464:Osgepl1 UTSW 1 53,357,299 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16