|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 13|
|Synonyms||MMP-13, interstitial collagenase, Clg, Mmp1, Collagenase-3, collagenase-1|
|Is this an essential gene?||Probably non essential (E-score: 0.161)|
|Stock #||R0143 (G1)|
|Chromosomal Location||7272514-7283331 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 7276558 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 218 (F218L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015394 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015394]|
|PDB Structure||STRUCTURE OF RECOMBINANT MOUSE COLLAGENASE-3 (MMP-13) [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: F218L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F218L
|Meta Mutation Damage Score||0.5424|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
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||
|Other mutations in Mmp13||
(F):5'- GCTAAGCCTAAAGCTATGTGGGACC -3'
(R):5'- TTCTACCCAGACAAGCAGTTTGCTC -3'
(F):5'- TAGagaagacagagaaaaatcagaac -3'
(R):5'- GCCAATGTAACTGTGTTCATCAG -3'