Incidental Mutation 'IGL02932:Osgepl1'
ID364133
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: 0.174) question?
Stock #IGL02932
Quality Score
Status
Chromosome1
Chromosomal Location53313624-53326343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 53321516 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 372 (R372H)
Ref Sequence ENSEMBL: ENSMUSP00000110128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027265] [ENSMUST00000114484] [ENSMUST00000135614] [ENSMUST00000144660] [ENSMUST00000151296] [ENSMUST00000190734]
Predicted Effect probably benign
Transcript: ENSMUST00000027265
AA Change: R372H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: R372H

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114484
AA Change: R372H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: R372H

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135614
SMART Domains Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096

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 noncoding transcript
Transcript: ENSMUST00000186588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188688
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Coq3 C T 4: 21,900,430 A219V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Gpr143 A T X: 152,793,443 probably benign Het
Htr1b C A 9: 81,631,636 R306L probably damaging Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mttp A G 3: 138,111,744 F415S probably benign Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Slc38a7 A C 8: 95,846,155 I149M probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Ttpa A G 4: 20,021,215 T128A possibly damaging Het
Wdhd1 A G 14: 47,272,134 probably null 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
IGL03269:Osgepl1 APN 1 53321112 nonsense probably null
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 On2015-12-18