|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 10|
|Is this an essential gene?||Probably non essential (E-score: 0.103)|
|Stock #||R1806 (G1)|
|Chromosomal Location||7502352-7510240 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 7506501 bp|
|Amino Acid Change||Histidine to Leucine at position 326 (H326L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034488]|
|Predicted Effect||probably benign
AA Change: H326L
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: H326L
|Meta Mutation Damage Score||0.034|
|Coding Region Coverage||
|Validation Efficiency||96% (77/80)|
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. The lack of encoded protein in mice promotes experimental lung cancer formation, exacerbates experimental colitis and promotes development of inflammation-associated colonic dysplasia. 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 increased susceptibility to bacterial infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp10||
(F):5'- TTGCCTGGAATCACATGTGG -3'
(R):5'- AATGCTCATTCACCAGTTCCAATC -3'
(F):5'- CTGGAATCACATGTGGGACAATCC -3'
(R):5'- GCTCATTCACCAGTTCCAATCTGTTC -3'