Incidental Mutation 'IGL03268:Dcn'
ID415142
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 #IGL03268
Quality Score
Status
Chromosome10
Chromosomal Location97479609-97518143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97483378 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 6 (I6V)
Ref Sequence ENSEMBL: ENSMUSP00000151241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105287] [ENSMUST00000163448] [ENSMUST00000219784]
Predicted Effect probably benign
Transcript: ENSMUST00000105287
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: I6V

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 benign
Transcript: ENSMUST00000163448
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: I6V

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
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign 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
IGL02608:Dcn APN 10 97483457 missense probably damaging 0.99
IGL02990:Dcn APN 10 97509973 missense probably benign 0.00
IGL03181:Dcn APN 10 97483452 missense probably damaging 0.98
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
R7874:Dcn UTSW 10 97510194 splice site probably null
R8017:Dcn UTSW 10 97483535 missense probably damaging 1.00
R8049:Dcn UTSW 10 97513617 missense probably damaging 1.00
R8316:Dcn UTSW 10 97495077 missense probably damaging 1.00
Posted On2016-08-02