Incidental Mutation 'IGL03269:Osgepl1'
ID415199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osgepl1
Ensembl Gene ENSMUSG00000026096
Gene NameO-sialoglycoprotein endopeptidase-like 1
Synonyms2610001M19Rik, MGC13061
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL03269
Quality Score
Status
Chromosome1
Chromosomal Location53313624-53326343 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 53321112 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 332 (Y332*)
Ref Sequence ENSEMBL: ENSMUSP00000137994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027265] [ENSMUST00000114484] [ENSMUST00000135614] [ENSMUST00000144660] [ENSMUST00000151296] [ENSMUST00000190734]
Predicted Effect probably null
Transcript: ENSMUST00000027265
AA Change: Y332*
SMART Domains Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: Y332*

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114484
AA Change: Y332*
SMART Domains Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: Y332*

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135614
AA Change: Y332*
SMART Domains Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096
AA Change: Y332*

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 7.6e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135786
Predicted Effect probably benign
Transcript: ENSMUST00000144660
SMART Domains Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913

DomainStartEndE-ValueType
Pfam:GATase_7 59 162 1.4e-8 PFAM
Pfam:Asn_synthase 304 565 5.6e-56 PFAM
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 27,108,355 C930* probably null Het
Ankar A T 1: 72,665,201 V854E probably damaging Het
Ccdc151 A G 9: 21,998,043 probably null Het
Ceacam3 T A 7: 17,161,842 L579Q probably damaging Het
Clip2 G T 5: 134,516,894 H314Q probably damaging Het
Fbxo28 A G 1: 182,317,018 V327A possibly damaging Het
Gdap1 T A 1: 17,161,505 F358Y probably benign Het
Ighv1-18 T C 12: 114,682,846 Y46C probably damaging Het
Il1rl2 T A 1: 40,365,312 F531Y probably damaging Het
Irf6 A G 1: 193,162,598 probably benign Het
Ncoa6 T C 2: 155,406,489 T1632A probably damaging Het
Olfr1469 T A 19: 13,411,428 N286K probably damaging Het
Olfr723 T A 14: 49,928,708 T279S probably damaging Het
Olfr902 A G 9: 38,448,901 T10A probably benign Het
Pibf1 G A 14: 99,187,735 A553T probably damaging Het
Prpf38b A G 3: 108,905,241 F219L probably benign Het
Pwp1 C A 10: 85,882,904 Q312K probably damaging Het
Rnf17 T C 14: 56,427,946 V185A possibly damaging Het
Serpina3k T C 12: 104,340,521 I4T possibly damaging Het
Slc33a1 A G 3: 63,963,757 V145A probably damaging Het
Slco3a1 T C 7: 74,318,532 D480G possibly damaging Het
Tcrg-V4 T A 13: 19,185,452 I122K probably damaging Het
Tdpoz4 G A 3: 93,796,837 C147Y probably damaging Het
Tlr4 C A 4: 66,840,796 P609T probably damaging Het
Ttc30a2 T C 2: 75,978,135 D11G possibly damaging Het
Unc79 A G 12: 103,088,677 K927E probably damaging Het
Vmn1r71 G A 7: 10,748,644 T39I possibly damaging Het
Vmn2r9 A G 5: 108,847,954 L276P probably damaging Het
Zfp335 C A 2: 164,900,354 R570L probably damaging Het
Other mutations in Osgepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Osgepl1 APN 1 53320246 missense probably benign 0.07
IGL00774:Osgepl1 APN 1 53320246 missense probably benign 0.07
IGL02672:Osgepl1 APN 1 53320111 missense probably benign
IGL02932:Osgepl1 APN 1 53321516 missense probably benign 0.01
H8562:Osgepl1 UTSW 1 53315039 missense probably damaging 1.00
R0100:Osgepl1 UTSW 1 53323213 missense probably damaging 0.99
R0100:Osgepl1 UTSW 1 53323213 missense probably damaging 0.99
R0519:Osgepl1 UTSW 1 53321096 missense probably damaging 1.00
R0739:Osgepl1 UTSW 1 53323195 nonsense probably null
R1724:Osgepl1 UTSW 1 53317903 missense probably benign 0.06
R3793:Osgepl1 UTSW 1 53320247 missense probably damaging 0.97
R4214:Osgepl1 UTSW 1 53315008 missense probably damaging 1.00
R5009:Osgepl1 UTSW 1 53318180 missense probably damaging 1.00
R5721:Osgepl1 UTSW 1 53321200 missense possibly damaging 0.88
R5890:Osgepl1 UTSW 1 53318167 missense probably damaging 1.00
R6479:Osgepl1 UTSW 1 53321543 missense probably benign 0.00
R7046:Osgepl1 UTSW 1 53321551 missense possibly damaging 0.87
Posted On2016-08-02