Incidental Mutation 'R6479:Osgepl1'
ID 516951
Institutional Source Beutler Lab
Gene Symbol Osgepl1
Ensembl Gene ENSMUSG00000026096
Gene Name O-sialoglycoprotein endopeptidase-like 1
Synonyms MGC13061, 2610001M19Rik
MMRRC Submission 044611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6479 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 53352783-53365502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53360702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 381 (V381A)
Ref Sequence ENSEMBL: ENSMUSP00000110128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027265] [ENSMUST00000114484] [ENSMUST00000135614] [ENSMUST00000144660] [ENSMUST00000151296] [ENSMUST00000190734]
AlphaFold Q6PEB4
Predicted Effect probably benign
Transcript: ENSMUST00000027265
AA Change: V381A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: V381A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 59 365 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114484
AA Change: V381A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: V381A

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153939
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.0%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A C 8: 25,119,681 (GRCm39) S533A probably benign Het
Akap6 T G 12: 53,187,952 (GRCm39) S1789A probably damaging Het
Alox15 A G 11: 70,236,011 (GRCm39) S519P probably damaging Het
Anapc2 A G 2: 25,175,407 (GRCm39) K816E probably benign Het
Atp6v1a T C 16: 43,919,121 (GRCm39) D488G probably benign Het
Banp A G 8: 122,718,176 (GRCm39) probably null Het
Camsap1 A G 2: 25,825,874 (GRCm39) C1367R possibly damaging Het
Casz1 C A 4: 149,021,535 (GRCm39) H539Q probably damaging Het
Ccl5 A G 11: 83,421,212 (GRCm39) Y26H probably benign Het
Cops3 A T 11: 59,723,898 (GRCm39) S86R probably benign Het
Cts7 A G 13: 61,503,455 (GRCm39) S170P probably benign Het
Cxcl15 A T 5: 90,943,104 (GRCm39) E35D possibly damaging Het
Dennd1b C T 1: 138,969,698 (GRCm39) probably benign Het
Dicer1 T C 12: 104,662,982 (GRCm39) D1533G probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock4 A G 12: 40,878,954 (GRCm39) E1531G probably damaging Het
Erap1 A G 13: 74,811,612 (GRCm39) probably null Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gm10309 A T 17: 86,812,007 (GRCm39) M1K probably null Het
Gm4884 A T 7: 40,690,211 (GRCm39) N36Y probably damaging Het
Hmcn1 G A 1: 150,553,053 (GRCm39) R2546* probably null Het
Hmcn2 A G 2: 31,315,480 (GRCm39) D3743G probably damaging Het
Hsd3b9 T A 3: 98,354,157 (GRCm39) E114V possibly damaging Het
Irak2 A T 6: 113,663,902 (GRCm39) N423Y probably damaging Het
Jarid2 G A 13: 45,001,765 (GRCm39) G26D probably benign Het
Kif13b A G 14: 64,988,974 (GRCm39) K785R probably benign Het
Lamc3 A T 2: 31,777,413 (GRCm39) I20F probably benign Het
Limk1 G A 5: 134,690,373 (GRCm39) probably benign Het
Lrp4 C T 2: 91,317,429 (GRCm39) T851I probably damaging Het
Med13 G A 11: 86,248,353 (GRCm39) probably benign Het
Megf10 T C 18: 57,379,642 (GRCm39) F273L possibly damaging Het
Meltf T A 16: 31,700,700 (GRCm39) D73E probably damaging Het
Mroh7 A G 4: 106,560,385 (GRCm39) F640L possibly damaging Het
Mtor T C 4: 148,635,457 (GRCm39) S2448P probably benign Het
Myo3a T C 2: 22,467,877 (GRCm39) V377A probably benign Het
Myo5b T C 18: 74,750,086 (GRCm39) V183A probably damaging Het
Nedd4l G A 18: 65,342,752 (GRCm39) R755H probably damaging Het
Nrde2 T C 12: 100,110,207 (GRCm39) T275A probably benign Het
Or52n4 A G 7: 104,294,333 (GRCm39) I80T probably benign Het
Pcdha1 C T 18: 37,064,509 (GRCm39) T391I probably benign Het
Pdp1 T C 4: 11,961,327 (GRCm39) N328S probably damaging Het
Pepd A G 7: 34,740,147 (GRCm39) E340G probably benign Het
Plch1 T C 3: 63,651,931 (GRCm39) T387A probably benign Het
Plxnb1 C A 9: 108,940,733 (GRCm39) T1536K possibly damaging Het
Rbp7 T C 4: 149,534,347 (GRCm39) T130A probably benign Het
Rhot2 A T 17: 26,060,054 (GRCm39) V309E probably benign Het
Slc37a1 A G 17: 31,557,964 (GRCm39) I421M possibly damaging Het
Slit2 T A 5: 48,389,331 (GRCm39) L585H probably damaging Het
Spint4 C A 2: 164,542,764 (GRCm39) A119D probably benign Het
Strip2 G T 6: 29,944,496 (GRCm39) probably null Het
Stxbp4 T C 11: 90,510,013 (GRCm39) Y59C probably damaging Het
Syne1 G A 10: 5,181,679 (GRCm39) Q4219* probably null Het
Syne1 A T 10: 5,406,826 (GRCm39) I37N probably damaging Het
Syne4 G T 7: 30,016,340 (GRCm39) G179* probably null Het
Tead1 T C 7: 112,460,672 (GRCm39) V192A probably benign Het
Trim37 G T 11: 87,107,313 (GRCm39) E317* probably null Het
Wdfy3 A C 5: 102,061,045 (GRCm39) Y1390D probably damaging Het
Wdr81 A G 11: 75,342,931 (GRCm39) F779L possibly damaging Het
Zfp1002 C T 2: 150,096,511 (GRCm39) G306D probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACAATGGCATCATGATTGC -3'
(R):5'- ATGACCTGCAGAGATAGGCC -3'

Sequencing Primer
(F):5'- CTTAAACCTTATGCTGAGCCAGG -3'
(R):5'- TGACCTGCAGAGATAGGCCATATC -3'
Posted On 2018-05-21