Incidental Mutation 'R6613:Dcn'
| ID |
523784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcn
|
| Ensembl Gene |
ENSMUSG00000019929 |
| Gene Name |
decorin |
| Synonyms |
DC, SLRR1B |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
97315471-97354005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97330902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 79
(T79S)
|
| 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: T79S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: T79S
| 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: T79S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: T79S
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,191 (GRCm39) |
F317I |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,413,246 (GRCm39) |
E357* |
probably null |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
A |
T |
9: 44,293,795 (GRCm39) |
I242F |
probably damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,579,722 (GRCm39) |
|
probably null |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,412 (GRCm39) |
V650A |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTAGGCAGAAGAATTGC -3'
(R):5'- CCTTGCCAGGAAGAGAATCAG -3'
Sequencing Primer
(F):5'- TTGCAGAAGGAAGGGTAGCCTAC -3'
(R):5'- CAGATAAGCGCACAGTTATGTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation