Incidental Mutation 'IGL02159:Epyc'
ID 282382
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 # IGL02159
Quality Score
Status
Chromosome 10
Chromosomal Location 97479930-97517770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97506493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 100 (E100G)
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: E100G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: E100G

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 probably benign
Transcript: ENSMUST00000105285
AA Change: E100G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: E100G

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,446,527 (GRCm39) L257S probably damaging Het
Abca13 A G 11: 9,264,545 (GRCm39) S2976G probably benign Het
Afmid T C 11: 117,727,252 (GRCm39) W267R probably damaging Het
Ahi1 A G 10: 20,934,076 (GRCm39) K969R probably benign Het
Aldh1l1 A G 6: 90,571,638 (GRCm39) probably benign Het
Ank3 A G 10: 69,644,722 (GRCm39) H62R probably damaging Het
Arid2 T C 15: 96,256,793 (GRCm39) probably benign Het
Caps2 G A 10: 112,039,928 (GRCm39) V457M probably benign Het
Capza1 T C 3: 104,771,687 (GRCm39) D3G possibly damaging Het
Cav1 T A 6: 17,307,971 (GRCm39) V41E possibly damaging Het
Celf2 G T 2: 6,608,988 (GRCm39) C264* probably null Het
Clec4a2 C T 6: 123,116,285 (GRCm39) S150L probably benign Het
D7Ertd443e A T 7: 133,951,129 (GRCm39) D181E possibly damaging Het
Hdac11 A G 6: 91,150,084 (GRCm39) I294M probably damaging Het
Hrob G A 11: 102,150,991 (GRCm39) probably null Het
Hsdl1 A G 8: 120,293,153 (GRCm39) V73A probably benign Het
Kmt2c A T 5: 25,516,341 (GRCm39) S2501T probably benign Het
Lrrc41 T A 4: 115,945,683 (GRCm39) F133I probably benign Het
Map3k19 C A 1: 127,750,907 (GRCm39) G815C probably benign Het
Muc13 C A 16: 33,619,849 (GRCm39) T199K unknown Het
Nif3l1 G T 1: 58,487,105 (GRCm39) probably null Het
Nlrp12 A T 7: 3,298,175 (GRCm39) probably benign Het
Nup205 T C 6: 35,166,113 (GRCm39) S244P probably damaging Het
Or7a37 A T 10: 78,805,735 (GRCm39) N84I probably damaging Het
Parl G A 16: 20,098,838 (GRCm39) probably benign Het
Pax8 A G 2: 24,330,800 (GRCm39) I211T possibly damaging Het
Pglyrp4 A G 3: 90,638,160 (GRCm39) E158G possibly damaging Het
Plekhm1 A G 11: 103,271,057 (GRCm39) L478P probably benign Het
Prss3b T C 6: 41,009,891 (GRCm39) T148A probably benign Het
Serpina1a C T 12: 103,820,965 (GRCm39) G338R probably damaging Het
Serpina5 T C 12: 104,071,557 (GRCm39) L388P possibly damaging Het
Sorbs1 A G 19: 40,316,040 (GRCm39) V367A probably damaging Het
Srgap2 A G 1: 131,247,404 (GRCm39) probably benign Het
Surf1 A G 2: 26,805,663 (GRCm39) L26P probably damaging Het
Taf4 A G 2: 179,580,263 (GRCm39) S486P probably benign Het
Tdrd6 A T 17: 43,939,281 (GRCm39) V589E probably damaging Het
Tuba3b T G 6: 145,565,392 (GRCm39) S287A probably benign Het
Txnrd3 G A 6: 89,646,306 (GRCm39) R295H probably damaging Het
Ubr5 G T 15: 37,991,623 (GRCm39) probably benign Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Usp32 A G 11: 84,896,628 (GRCm39) probably null Het
Utp23 G A 15: 51,745,761 (GRCm39) R87K probably benign Het
Vps8 T C 16: 21,285,234 (GRCm39) I405T possibly damaging Het
Other mutations in Epyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Epyc APN 10 97,517,009 (GRCm39) missense probably benign 0.14
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
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 2015-04-16