|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5927 (G1)|
|Chromosomal Location||7558456-7568485 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 7563202 bp|
|Amino Acid Change||Asparagine to Lysine at position 255 (N255K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018765 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018765]|
|Predicted Effect||possibly damaging
AA Change: N255K
PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: N255K
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that degrades types I, II and III collagens. Mice lacking the encoded protein exhibit abnormalities in the inflammatory responses to various agents. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null males, and to a lesser extent ovariectomized or tamoxifen-treated null females, show increased susceptibility to chemically-induced skin tumors, a sustained inflammatory response to carcinogens, and increased PMN burden in the alveolar space during LPS-mediated acute lung injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp8||
(F):5'- GGTGGAGCCAATTAGGTCATTCAC -3'
(R):5'- AGCAAAATCATATTAGAGGCTCAGC -3'
(F):5'- ATTCACCATCTTTTCTTGCATTTCAG -3'
(R):5'- CAGCCTATCTTTTGCTAACACTATAG -3'