Incidental Mutation 'IGL01519:Dcn'
| ID |
89411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcn
|
| Ensembl Gene |
ENSMUSG00000019929 |
| Gene Name |
decorin |
| Synonyms |
DC, SLRR1B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
97315471-97354005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97319385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P28654 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap17b |
T |
C |
X: 35,875,503 (GRCm39) |
D668G |
probably damaging |
Het |
| Btbd3 |
A |
G |
2: 138,121,697 (GRCm39) |
M127V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,518,575 (GRCm39) |
T462A |
possibly damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Chd1 |
G |
A |
17: 17,598,831 (GRCm39) |
G98R |
probably damaging |
Het |
| Ckap2 |
G |
A |
8: 22,658,914 (GRCm39) |
R610C |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,895,157 (GRCm39) |
R1168H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,460,246 (GRCm39) |
T3515I |
probably benign |
Het |
| Dock11 |
A |
G |
X: 35,227,006 (GRCm39) |
I86V |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,945 (GRCm39) |
I179N |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,158,939 (GRCm39) |
M2275I |
probably benign |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,646 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,092,696 (GRCm39) |
I22L |
unknown |
Het |
| Golga4 |
A |
G |
9: 118,356,160 (GRCm39) |
E104G |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,753,698 (GRCm39) |
R699H |
probably damaging |
Het |
| Hrh1 |
A |
C |
6: 114,457,262 (GRCm39) |
E181A |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,699 (GRCm39) |
F50S |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,398 (GRCm39) |
I46N |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,123,071 (GRCm39) |
D35G |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,477,348 (GRCm39) |
V347I |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,144,331 (GRCm39) |
R161G |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,188,471 (GRCm39) |
|
probably benign |
Het |
| Taf1 |
T |
A |
X: 100,606,412 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,313,634 (GRCm39) |
Y351C |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,544,384 (GRCm39) |
D2133E |
probably damaging |
Het |
| Thap7 |
A |
C |
16: 17,346,609 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
A |
1: 150,306,919 (GRCm39) |
S1505T |
probably benign |
Het |
| Trav9-2 |
C |
T |
14: 53,828,809 (GRCm39) |
R60W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dcn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01776:Dcn
|
APN |
10 |
97,330,938 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02608:Dcn
|
APN |
10 |
97,319,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02990:Dcn
|
APN |
10 |
97,345,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03181:Dcn
|
APN |
10 |
97,319,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03268:Dcn
|
APN |
10 |
97,319,240 (GRCm39) |
missense |
probably benign |
|
|
PIT4791001:Dcn
|
UTSW |
10 |
97,343,604 (GRCm39) |
missense |
probably benign |
|
|
R0091:Dcn
|
UTSW |
10 |
97,342,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Dcn
|
UTSW |
10 |
97,342,345 (GRCm39) |
splice site |
probably benign |
|
|
R1759:Dcn
|
UTSW |
10 |
97,349,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1845:Dcn
|
UTSW |
10 |
97,342,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5322:Dcn
|
UTSW |
10 |
97,353,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6613:Dcn
|
UTSW |
10 |
97,330,902 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6650:Dcn
|
UTSW |
10 |
97,343,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7392:Dcn
|
UTSW |
10 |
97,345,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7596:Dcn
|
UTSW |
10 |
97,345,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Dcn
|
UTSW |
10 |
97,319,340 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7874:Dcn
|
UTSW |
10 |
97,346,056 (GRCm39) |
splice site |
probably null |
|
|
R8017:Dcn
|
UTSW |
10 |
97,319,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Dcn
|
UTSW |
10 |
97,349,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Dcn
|
UTSW |
10 |
97,330,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Dcn
|
UTSW |
10 |
97,343,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Dcn
|
UTSW |
10 |
97,343,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Dcn
|
UTSW |
10 |
97,343,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation