|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 1a (interstitial collagenase)|
|Is this an essential gene?||Possibly non essential (E-score: 0.389)|
|Stock #||R1801 (G1)|
|Chromosomal Location||7464141-7476869 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 7475390 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 387 (Y387N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034492] [ENSMUST00000217651]|
|Predicted Effect||probably damaging
AA Change: Y387N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y387N
AA Change: H387Q
|Coding Region Coverage||
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 collagens. Mice lacking the encoded protein exhibit decreased susceptibility to chemical carcinogen-induced lung tumor development and angiogenesis. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced inflammatory response following chemical induction of tumors and male mice exhibit fewer large induced tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp1a||
(F):5'- CTAGGACACACTGTTCCAGC -3'
(R):5'- GCACATTGCAATACCTGTTAGC -3'
(F):5'- TAGGACACACTGTTCCAGCTTTACG -3'
(R):5'- GCAATACCTGTTAGCACATGG -3'