Incidental Mutation 'IGL02608:Dcn'
ID300372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcn
Ensembl Gene ENSMUSG00000019929
Gene Namedecorin
SynonymsDC, SLRR1B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02608
Quality Score
Status
Chromosome10
Chromosomal Location97479609-97518143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97483457 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000131431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105287] [ENSMUST00000163448] [ENSMUST00000219784]
Predicted Effect probably damaging
Transcript: ENSMUST00000105287
AA Change: E32G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: E32G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 48 80 3.86e-11 SMART
LRR 79 98 2.54e1 SMART
LRR 99 122 1.14e0 SMART
LRR_TYP 123 146 2.91e-2 SMART
LRR 147 167 1.67e2 SMART
LRR 168 193 1.29e2 SMART
LRR 194 217 5.27e1 SMART
LRR 239 262 6.05e0 SMART
LRR 263 286 1.01e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163448
AA Change: E32G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: E32G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 48 80 3.86e-11 SMART
LRR 79 98 2.54e1 SMART
LRR 99 122 1.14e0 SMART
LRR_TYP 123 146 2.91e-2 SMART
LRR 147 167 1.67e2 SMART
LRR 168 193 1.29e2 SMART
LRR 194 217 5.27e1 SMART
LRR 239 262 6.05e0 SMART
LRR 263 286 1.01e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219539
Predicted Effect probably benign
Transcript: ENSMUST00000219784
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate a mature protein product, which is secreted into the extracellular space to regulate collagen fibril assembly. Homozygous knockout mice for this gene exhibit enhanced tumorigenesis in a liver cancer model, and defects in collagen fibrils, leading to weakened skin and tendons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutant mice have fragile skin and exhibit abnormal collagen morphology in skin and tendons, supporting this gene's role in regulating collagen fiber formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,339,192 M415L probably benign Het
Akap6 T C 12: 53,010,606 S952P probably benign Het
Aldh3a1 A G 11: 61,216,321 R284G probably damaging Het
Aldh3b1 G T 19: 3,914,061 H414N probably damaging Het
Chd5 G A 4: 152,356,107 M141I possibly damaging Het
Cntn2 C T 1: 132,525,916 A340T possibly damaging Het
Daw1 T A 1: 83,209,334 C288* probably null Het
Dock5 C T 14: 67,828,439 V372M probably benign Het
Etf1 T C 18: 34,931,617 E13G probably damaging Het
Filip1l A G 16: 57,572,106 E781G probably benign Het
Gm8989 T A 7: 106,329,669 noncoding transcript Het
Gucy1a2 A G 9: 3,635,113 I386V probably damaging Het
Hoxb5 T A 11: 96,305,143 probably benign Het
Iqch T A 9: 63,421,828 probably benign Het
Itgal C T 7: 127,310,244 P423S probably damaging Het
Kti12 T G 4: 108,848,162 L91R probably damaging Het
Lgals3 T C 14: 47,385,601 M239T probably benign Het
Lrrc8a T C 2: 30,256,299 M375T possibly damaging Het
Ly75 T C 2: 60,321,900 E1103G probably benign Het
Lyst A T 13: 13,712,754 E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 probably benign Het
Ncor1 G A 11: 62,373,214 T180I probably benign Het
Nectin4 T C 1: 171,384,773 V313A probably benign Het
Nol4l A G 2: 153,436,293 S8P possibly damaging Het
Npas2 T A 1: 39,345,446 S607T probably benign Het
Nup155 T A 15: 8,109,471 M9K probably benign Het
Nwd1 T C 8: 72,667,375 L422P probably damaging Het
Olfr114 T A 17: 37,590,219 I45F probably damaging Het
Papola G T 12: 105,809,559 G245C probably damaging Het
Pcdhb6 T C 18: 37,334,694 S223P probably damaging Het
Pdcd4 T C 19: 53,927,207 probably null Het
Pigg T C 5: 108,313,003 F27L probably damaging Het
Prpf40a A T 2: 53,146,153 M588K probably damaging Het
Psme4 A G 11: 30,820,944 N764S probably benign Het
Ptar1 A C 19: 23,705,712 E110A possibly damaging Het
Rbm12 A T 2: 156,095,898 probably benign Het
Rfx7 A G 9: 72,617,294 T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 noncoding transcript Het
Rpp38 T C 2: 3,329,161 T235A probably benign Het
Sbno2 A T 10: 80,067,402 probably null Het
Scn3a A T 2: 65,524,166 C337* probably null Het
Sec61a2 T C 2: 5,874,262 T312A probably benign Het
Snrpg C A 6: 86,376,568 D43E probably damaging Het
Stag1 A T 9: 100,757,769 Q126L probably null Het
Taar6 A G 10: 23,985,183 V155A probably benign Het
Tet1 G A 10: 62,879,609 H136Y possibly damaging Het
Tet1 C A 10: 62,839,087 S1070I probably damaging Het
Tfcp2 T C 15: 100,514,110 T327A possibly damaging Het
Tnfrsf13c C T 15: 82,223,163 V144M probably damaging Het
Tnfrsf22 T A 7: 143,644,796 K61* probably null Het
Trhr T C 15: 44,197,678 V198A probably benign Het
Trp53inp2 A G 2: 155,386,649 R175G probably damaging Het
Try10 G A 6: 41,355,487 G26R probably damaging Het
Vmn1r205 A G 13: 22,592,200 V244A probably damaging Het
Wrnip1 T A 13: 32,806,874 L372H probably damaging Het
Zfp280d T A 9: 72,307,979 L149Q probably damaging Het
Zfp445 A G 9: 122,861,875 V85A probably damaging Het
Other mutations in Dcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Dcn APN 10 97483523 missense probably damaging 1.00
IGL01776:Dcn APN 10 97495076 missense possibly damaging 0.88
IGL02990:Dcn APN 10 97509973 missense probably benign 0.00
IGL03181:Dcn APN 10 97483452 missense probably damaging 0.98
IGL03268:Dcn APN 10 97483378 missense probably benign
PIT4791001:Dcn UTSW 10 97507742 missense probably benign
R0091:Dcn UTSW 10 97506689 missense probably benign 0.00
R0267:Dcn UTSW 10 97506483 splice site probably benign
R1759:Dcn UTSW 10 97513655 missense probably benign 0.01
R1845:Dcn UTSW 10 97506674 missense probably benign 0.00
R5322:Dcn UTSW 10 97517602 missense probably benign 0.03
R6613:Dcn UTSW 10 97495040 missense probably benign 0.03
R6650:Dcn UTSW 10 97507743 missense probably benign 0.00
R7392:Dcn UTSW 10 97509998 missense probably damaging 0.98
R7596:Dcn UTSW 10 97510009 missense probably damaging 1.00
R7626:Dcn UTSW 10 97483478 missense possibly damaging 0.75
R7957:Dcn UTSW 10 97510194 intron probably null
R8049:Dcn UTSW 10 97513617 missense probably damaging 1.00
Posted On2015-04-16