Incidental Mutation 'IGL02990:Dcn'
ID |
406888 |
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 # |
IGL02990
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
97315471-97354005 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97345835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105287]
[ENSMUST00000163448]
|
AlphaFold |
P28654 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105287
AA Change: T216A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000100924 Gene: ENSMUSG00000019929 AA Change: T216A
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 benign
Transcript: ENSMUST00000163448
AA Change: T216A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000131431 Gene: ENSMUSG00000019929 AA Change: T216A
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: ENSMUST00000219539
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
G |
T |
11: 69,054,032 (GRCm39) |
V205F |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,407,170 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,344,741 (GRCm39) |
V169I |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,050 (GRCm39) |
S24P |
probably damaging |
Het |
Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,745,159 (GRCm39) |
M958V |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
Or4c115 |
T |
C |
2: 88,927,473 (GRCm39) |
Y266C |
possibly damaging |
Het |
Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
Het |
|
Other mutations in Dcn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01519:Dcn
|
APN |
10 |
97,319,385 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |