Incidental Mutation 'IGL02672:Osgepl1'
ID 302958
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 # IGL02672
Quality Score
Status
Chromosome 1
Chromosomal Location 53352783-53365502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53359270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 260 (T260A)
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: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: T260A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114484
AA Change: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: T260A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135614
AA Change: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096
AA Change: T260A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Osgepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Osgepl1 APN 1 53,359,405 (GRCm39) missense probably benign 0.07
IGL00774:Osgepl1 APN 1 53,359,405 (GRCm39) missense probably benign 0.07
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