Incidental Mutation 'IGL01519:Dcn'
ID89411
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 #IGL01519
Quality Score
Status
Chromosome10
Chromosomal Location97479609-97518143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97483523 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 54 (Q54R)
Ref Sequence ENSEMBL: ENSMUSP00000131431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105287] [ENSMUST00000163448] [ENSMUST00000219784]
Predicted Effect probably damaging
Transcript: ENSMUST00000105287
AA Change: Q54R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: Q54R

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: Q54R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: Q54R

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap17b T C X: 36,611,850 D668G probably damaging Het
Btbd3 A G 2: 138,279,777 M127V probably benign Het
Btbd9 T C 17: 30,299,601 T462A possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chd1 G A 17: 17,378,569 G98R probably damaging Het
Ckap2 G A 8: 22,168,898 R610C probably benign Het
Col18a1 C T 10: 77,059,323 R1168H probably damaging Het
Csmd3 G A 15: 47,596,850 T3515I probably benign Het
Dock11 A G X: 35,963,353 I86V probably benign Het
Dram2 T A 3: 106,571,629 I179N possibly damaging Het
Fbn1 C T 2: 125,317,019 M2275I probably benign Het
Gga2 A G 7: 122,002,188 S231P probably damaging Het
Gk2 T A 5: 97,455,787 L397F probably damaging Het
Gm10436 T C 12: 88,177,561 R161G probably benign Het
Gm8122 T A 14: 43,235,239 I22L unknown Het
Golga4 A G 9: 118,527,092 E104G probably damaging Het
Herc2 G A 7: 56,103,950 R699H probably damaging Het
Hrh1 A C 6: 114,480,301 E181A probably damaging Het
Lsm8 T C 6: 18,851,700 F50S probably damaging Het
Olfr161 T A 16: 3,592,534 I46N probably damaging Het
Pard6g A G 18: 80,079,856 D35G probably benign Het
Plod2 G A 9: 92,595,295 V347I probably benign Het
Snx13 T C 12: 35,138,472 probably benign Het
Taf1 T A X: 101,562,806 probably benign Het
Tarsl2 A G 7: 65,663,886 Y351C probably damaging Het
Tenm4 C A 7: 96,895,177 D2133E probably damaging Het
Thap7 A C 16: 17,528,745 probably benign Het
Tpr T A 1: 150,431,168 S1505T probably benign Het
Trav9-2 C T 14: 53,591,352 R60W probably damaging Het
Ttn A G 2: 76,878,348 probably benign Het
Other mutations in Dcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
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 On2013-12-03