Incidental Mutation 'IGL00430:Epyc'
ID 4675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epyc
Ensembl Gene ENSMUSG00000019936
Gene Name epiphycan
Synonyms SLRR3B, PG-Lb, Dspg3, epiphycan
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL00430
Quality Score
Status
Chromosome 10
Chromosomal Location 97479930-97517770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97517009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 282 (K282N)
Ref Sequence ENSEMBL: ENSMUSP00000100922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020094] [ENSMUST00000105285]
AlphaFold P70186
Predicted Effect probably benign
Transcript: ENSMUST00000020094
AA Change: K282N

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: K282N

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 benign
Transcript: ENSMUST00000105285
AA Change: K282N

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: K282N

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,772,641 (GRCm39) S17N probably benign Het
Atp2a1 C T 7: 126,046,388 (GRCm39) W72* probably null Het
Baz2b C A 2: 59,743,139 (GRCm39) A1611S probably benign Het
Cep290 A T 10: 100,344,586 (GRCm39) I475L probably benign Het
Cpsf4l C T 11: 113,600,044 (GRCm39) probably benign Het
Crispld2 A T 8: 120,760,299 (GRCm39) R408S probably damaging Het
Cyp3a25 A T 5: 145,930,170 (GRCm39) M145K probably damaging Het
Dexi A T 16: 10,360,309 (GRCm39) D82E probably benign Het
Ercc6l2 G T 13: 64,006,133 (GRCm39) V588F probably damaging Het
Galnt14 C T 17: 73,801,227 (GRCm39) V532I probably damaging Het
Grk1 C A 8: 13,463,128 (GRCm39) Y383* probably null Het
Gtpbp1 G T 15: 79,603,337 (GRCm39) G609W possibly damaging Het
Hadha C T 5: 30,325,145 (GRCm39) V682M possibly damaging Het
Igdcc3 A C 9: 65,089,301 (GRCm39) D499A probably damaging Het
Kcna10 T G 3: 107,102,044 (GRCm39) V225G probably damaging Het
Kcnh4 T C 11: 100,648,480 (GRCm39) T75A possibly damaging Het
Lama4 A G 10: 38,921,700 (GRCm39) E407G possibly damaging Het
Mrpl13 T A 15: 55,403,597 (GRCm39) K105N probably damaging Het
Pcdhb2 A T 18: 37,429,516 (GRCm39) probably null Het
Pck2 C T 14: 55,781,401 (GRCm39) A209V probably benign Het
Plce1 A G 19: 38,713,461 (GRCm39) E1243G probably damaging Het
Plekhh2 A T 17: 84,829,203 (GRCm39) M25L probably benign Het
Rasef G A 4: 73,689,662 (GRCm39) Q117* probably null Het
Rbm14 A G 19: 4,861,454 (GRCm39) V28A probably damaging Het
Rcan2 A G 17: 44,147,275 (GRCm39) T38A probably benign Het
Rin1 A G 19: 5,101,404 (GRCm39) N96S probably benign Het
Rrp12 A G 19: 41,865,773 (GRCm39) probably null Het
Slco1a6 A T 6: 142,047,377 (GRCm39) C404* probably null Het
St6galnac3 T C 3: 153,215,040 (GRCm39) N38S probably benign Het
Top2b T A 14: 16,422,692 (GRCm38) S1376R probably benign Het
Trip11 T C 12: 101,852,406 (GRCm39) I553V probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Uggt2 A T 14: 119,263,841 (GRCm39) L1063* probably null Het
Zmym6 T A 4: 126,995,742 (GRCm39) C269* probably null Het
Other mutations in Epyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Epyc APN 10 97,510,593 (GRCm39) missense probably damaging 1.00
IGL01778:Epyc APN 10 97,517,099 (GRCm39) nonsense probably null
IGL02010:Epyc APN 10 97,485,563 (GRCm39) start codon destroyed probably null 1.00
IGL02159:Epyc APN 10 97,506,493 (GRCm39) missense probably benign 0.00
IGL03176:Epyc APN 10 97,485,562 (GRCm39) start codon destroyed probably null 0.99
R0110:Epyc UTSW 10 97,485,625 (GRCm39) missense probably benign 0.03
R0469:Epyc UTSW 10 97,485,625 (GRCm39) missense probably benign 0.03
R0510:Epyc UTSW 10 97,485,625 (GRCm39) missense probably benign 0.03
R1883:Epyc UTSW 10 97,511,695 (GRCm39) missense possibly damaging 0.83
R2013:Epyc UTSW 10 97,511,655 (GRCm39) missense probably damaging 1.00
R2355:Epyc UTSW 10 97,512,875 (GRCm39) missense probably damaging 1.00
R5005:Epyc UTSW 10 97,510,562 (GRCm39) missense probably benign 0.11
R5958:Epyc UTSW 10 97,485,704 (GRCm39) missense probably benign
R7311:Epyc UTSW 10 97,485,562 (GRCm39) start codon destroyed probably null 0.99
R8236:Epyc UTSW 10 97,517,067 (GRCm39) missense probably damaging 1.00
R8786:Epyc UTSW 10 97,511,525 (GRCm39) missense probably damaging 1.00
R8929:Epyc UTSW 10 97,511,607 (GRCm39) missense probably benign 0.26
R9486:Epyc UTSW 10 97,511,697 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20