Incidental Mutation 'IGL00430:Epyc'
ID 4675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epyc
Ensembl Gene ENSMUSG00000019936
Gene Name epiphycan
Synonyms PG-Lb, epiphycan, Dspg3, SLRR3B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL00430
Quality Score
Status
Chromosome 10
Chromosomal Location 97644068-97682454 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97681147 bp (GRCm38)
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: 43,784,202 S17N probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Baz2b C A 2: 59,912,795 A1611S probably benign Het
Cep290 A T 10: 100,508,724 I475L probably benign Het
Cpsf4l C T 11: 113,709,218 probably benign Het
Crispld2 A T 8: 120,033,560 R408S probably damaging Het
Cyp3a25 A T 5: 145,993,360 M145K probably damaging Het
Dexi A T 16: 10,542,445 D82E probably benign Het
Ercc6l2 G T 13: 63,858,319 V588F probably damaging Het
Galnt14 C T 17: 73,494,232 V532I probably damaging Het
Grk1 C A 8: 13,413,128 Y383* probably null Het
Gtpbp1 G T 15: 79,719,136 G609W possibly damaging Het
Hadha C T 5: 30,120,147 V682M possibly damaging Het
Igdcc3 A C 9: 65,182,019 D499A probably damaging Het
Kcna10 T G 3: 107,194,728 V225G probably damaging Het
Kcnh4 T C 11: 100,757,654 T75A possibly damaging Het
Lama4 A G 10: 39,045,704 E407G possibly damaging Het
Mrpl13 T A 15: 55,540,201 K105N probably damaging Het
Pcdhb2 A T 18: 37,296,463 probably null Het
Pck2 C T 14: 55,543,944 A209V probably benign Het
Plce1 A G 19: 38,725,017 E1243G probably damaging Het
Plekhh2 A T 17: 84,521,775 M25L probably benign Het
Rasef G A 4: 73,771,425 Q117* probably null Het
Rbm14 A G 19: 4,811,426 V28A probably damaging Het
Rcan2 A G 17: 43,836,384 T38A probably benign Het
Rin1 A G 19: 5,051,376 N96S probably benign Het
Rrp12 A G 19: 41,877,334 probably null Het
Slco1a6 A T 6: 142,101,651 C404* probably null Het
St6galnac3 T C 3: 153,509,403 N38S probably benign Het
Top2b T A 14: 16,422,692 S1376R probably benign Het
Trip11 T C 12: 101,886,147 I553V probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Uggt2 A T 14: 119,026,429 L1063* probably null Het
Zmym6 T A 4: 127,101,949 C269* probably null Het
Other mutations in Epyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Epyc APN 10 97674731 missense probably damaging 1.00
IGL01778:Epyc APN 10 97681237 nonsense probably null
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
R7311:Epyc UTSW 10 97649700 start codon destroyed probably null 0.99
R8236:Epyc UTSW 10 97681205 missense probably damaging 1.00
R8786:Epyc UTSW 10 97675663 missense probably damaging 1.00
R8929:Epyc UTSW 10 97675745 missense probably benign 0.26
R9486:Epyc UTSW 10 97675835 missense probably benign 0.01
Posted On 2012-04-20