Incidental Mutation 'IGL01778:Epyc'
ID153754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epyc
Ensembl Gene ENSMUSG00000019936
Gene Nameepiphycan
SynonymsPG-Lb, epiphycan, Dspg3, SLRR3B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL01778
Quality Score
Status
Chromosome10
Chromosomal Location97644068-97682454 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 97681237 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 312 (C312*)
Ref Sequence ENSEMBL: ENSMUSP00000100922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020094] [ENSMUST00000105285]
Predicted Effect probably null
Transcript: ENSMUST00000020094
AA Change: C312*
SMART Domains Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: C312*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 117 147 1.79e-6 SMART
LRR 166 189 1.73e0 SMART
LRR 190 215 3.47e0 SMART
LRR 258 280 3.18e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099324
Predicted Effect probably null
Transcript: ENSMUST00000105285
AA Change: C312*
SMART Domains Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: C312*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 117 147 1.79e-6 SMART
LRR 166 189 1.73e0 SMART
LRR 190 215 3.47e0 SMART
LRR 258 280 3.18e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220233
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out exhibit short femurs and borderline osteoarthritis at 9 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Epyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Epyc APN 10 97681147 missense probably benign 0.14
IGL01347:Epyc APN 10 97674731 missense probably damaging 1.00
IGL02010:Epyc APN 10 97649701 start codon destroyed probably null 1.00
IGL02159:Epyc APN 10 97670631 missense probably benign 0.00
IGL03176:Epyc APN 10 97649700 start codon destroyed probably null 0.99
R0110:Epyc UTSW 10 97649763 missense probably benign 0.03
R0469:Epyc UTSW 10 97649763 missense probably benign 0.03
R0510:Epyc UTSW 10 97649763 missense probably benign 0.03
R1883:Epyc UTSW 10 97675833 missense possibly damaging 0.83
R2013:Epyc UTSW 10 97675793 missense probably damaging 1.00
R2355:Epyc UTSW 10 97677013 missense probably damaging 1.00
R5005:Epyc UTSW 10 97674700 missense probably benign 0.11
R5958:Epyc UTSW 10 97649842 missense probably benign
Posted On2014-02-04