Incidental Mutation 'IGL01976:Mmp13'
| ID |
182688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp13
|
| Ensembl Gene |
ENSMUSG00000050578 |
| Gene Name |
matrix metallopeptidase 13 |
| Synonyms |
interstitial collagenase, Collagenase-3, collagenase-1, MMP-13, Mmp1, Clg |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7272514-7283331 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 7278974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015394]
|
| AlphaFold |
P33435 |
| PDB Structure |
STRUCTURE OF RECOMBINANT MOUSE COLLAGENASE-3 (MMP-13) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015394
|
| SMART Domains |
Protein: ENSMUSP00000015394
Gene: ENSMUSG00000050578
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
33 |
92 |
5.3e-13 |
PFAM |
|
ZnMc
|
110 |
269 |
3.76e-59 |
SMART |
|
HX
|
291 |
333 |
9.62e-8 |
SMART |
|
HX
|
335 |
378 |
9.91e-10 |
SMART |
|
HX
|
383 |
430 |
2.52e-11 |
SMART |
|
HX
|
432 |
472 |
1.81e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family that plays a role in wound healing, skeletal development and bone remodeling. The encoded protein is activated by the removal of an N-terminal activation peptide to generate a zinc-dependent endopeptidase enzyme that can cleave various native collagens, including types I - IV, X and XIV. Mice lacking the encoded protein display profound defects in growth plate cartilage as well as a delay in the endochondral bone development. Lack of the encoded protein also impairs the wound healing process due to reduced keratinocyte migration and vascular density at the wound site. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
probably benign |
Het |
|
| Other mutations in Mmp13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02027:Mmp13
|
APN |
9 |
7,272,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Mmp13
|
APN |
9 |
7,278,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0143:Mmp13
|
UTSW |
9 |
7,276,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Mmp13
|
UTSW |
9 |
7,276,602 (GRCm39) |
missense |
probably benign |
|
|
R0505:Mmp13
|
UTSW |
9 |
7,272,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Mmp13
|
UTSW |
9 |
7,280,221 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0632:Mmp13
|
UTSW |
9 |
7,282,077 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0632:Mmp13
|
UTSW |
9 |
7,274,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Mmp13
|
UTSW |
9 |
7,272,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1387:Mmp13
|
UTSW |
9 |
7,282,033 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1478:Mmp13
|
UTSW |
9 |
7,272,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Mmp13
|
UTSW |
9 |
7,277,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4647:Mmp13
|
UTSW |
9 |
7,274,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Mmp13
|
UTSW |
9 |
7,274,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Mmp13
|
UTSW |
9 |
7,272,580 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4827:Mmp13
|
UTSW |
9 |
7,278,880 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4898:Mmp13
|
UTSW |
9 |
7,272,953 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5780:Mmp13
|
UTSW |
9 |
7,278,952 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5946:Mmp13
|
UTSW |
9 |
7,276,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Mmp13
|
UTSW |
9 |
7,274,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Mmp13
|
UTSW |
9 |
7,276,688 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6693:Mmp13
|
UTSW |
9 |
7,280,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6789:Mmp13
|
UTSW |
9 |
7,272,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7310:Mmp13
|
UTSW |
9 |
7,280,880 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7728:Mmp13
|
UTSW |
9 |
7,274,004 (GRCm39) |
missense |
probably benign |
|
|
R8041:Mmp13
|
UTSW |
9 |
7,280,865 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8314:Mmp13
|
UTSW |
9 |
7,272,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Mmp13
|
UTSW |
9 |
7,276,636 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8684:Mmp13
|
UTSW |
9 |
7,282,089 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8755:Mmp13
|
UTSW |
9 |
7,277,996 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9365:Mmp13
|
UTSW |
9 |
7,277,921 (GRCm39) |
missense |
probably benign |
0.02 |
|
T0722:Mmp13
|
UTSW |
9 |
7,280,857 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Mmp13
|
UTSW |
9 |
7,280,200 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Mmp13
|
UTSW |
9 |
7,277,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation