Incidental Mutation 'R8017:Dcn'
| ID |
656307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcn
|
| Ensembl Gene |
ENSMUSG00000019929 |
| Gene Name |
decorin |
| Synonyms |
DC, SLRR1B |
| MMRRC Submission |
067457-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
97315471-97354005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97319397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 58
(R58Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105287]
[ENSMUST00000163448]
[ENSMUST00000219784]
|
| AlphaFold |
P28654 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105287
AA Change: R58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: R58Q
| 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: R58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: R58Q
| 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: ENSMUST00000219784
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (36/38) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,121,840 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
| Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
| Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
| Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
| Lmbrd2 |
T |
A |
15: 9,172,317 (GRCm39) |
N370K |
probably benign |
Het |
| Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,974 (GRCm39) |
S69P |
possibly damaging |
Het |
| Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,783 (GRCm39) |
E613G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
| Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
| Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
| Zfp268 |
A |
G |
4: 145,349,138 (GRCm39) |
T192A |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
probably benign |
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 |
|
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 |
|
|
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'- TCCCCAGGTCGTGAAAATAC -3'
(R):5'- GCCTAAAGTGTCCTAGCCTC -3'
Sequencing Primer
(F):5'- TCCCCAGGTCGTGAAAATACATGAG -3'
(R):5'- GTGTCCTAGCCTCAAAGTTAATTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation