Incidental Mutation 'IGL02010:Epyc'
ID183325
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: 0.097) question?
Stock #IGL02010
Quality Score
Status
Chromosome10
Chromosomal Location97644068-97682454 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 97649701 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000100922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020094] [ENSMUST00000105285]
Predicted Effect probably null
Transcript: ENSMUST00000020094
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: M1K

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 null
Transcript: ENSMUST00000105285
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: M1K

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
F10 T C 8: 13,048,292 I165T probably damaging Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hes1 G A 16: 30,067,310 G244D probably damaging Het
Hexb A G 13: 97,176,845 L501P probably benign Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Myl9 A T 2: 156,778,659 N39Y probably damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pde4a T C 9: 21,203,554 probably null Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Rtf1 G A 2: 119,701,266 probably null Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M 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
IGL01778:Epyc APN 10 97681237 nonsense probably null
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
R7311:Epyc UTSW 10 97649700 start codon destroyed probably null 0.99
R8236:Epyc UTSW 10 97681205 missense probably damaging 1.00
Posted On2014-05-07