Incidental Mutation 'IGL01522:Mmp7'
ID 89434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp7
Ensembl Gene ENSMUSG00000018623
Gene Name matrix metallopeptidase 7
Synonyms MAT, matrilysin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL01522
Quality Score
Status
Chromosome 9
Chromosomal Location 7692090-7699585 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7692228 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 35 (W35R)
Ref Sequence ENSEMBL: ENSMUSP00000018767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018767]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018767
AA Change: W35R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018767
Gene: ENSMUSG00000018623
AA Change: W35R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:PG_binding_1 31 85 3e-11 PFAM
ZnMc 103 263 5.78e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216642
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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. Mice lacking the encoded protein are deficient in functional cryptdins. 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 sensitivity to induced colitis and corneal wound neovascularization, decreased sensitivity to myocardial infarction and pancreatic duct ligation, impaired tracheal wound healing, and altered tumor susceptibility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Mmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Mmp7 APN 9 7699334 splice site probably benign
R1740:Mmp7 UTSW 9 7695277 missense possibly damaging 0.92
R3118:Mmp7 UTSW 9 7697692 missense probably benign
R3195:Mmp7 UTSW 9 7692218 missense probably benign 0.03
R3196:Mmp7 UTSW 9 7692218 missense probably benign 0.03
R4595:Mmp7 UTSW 9 7697666 missense probably damaging 1.00
R5941:Mmp7 UTSW 9 7697645 missense probably damaging 1.00
R6193:Mmp7 UTSW 9 7695518 missense probably damaging 1.00
R6564:Mmp7 UTSW 9 7695184 missense probably benign 0.02
R6995:Mmp7 UTSW 9 7695488 missense probably damaging 0.98
R7146:Mmp7 UTSW 9 7697586 critical splice acceptor site probably null
R7398:Mmp7 UTSW 9 7697593 missense probably damaging 1.00
R7768:Mmp7 UTSW 9 7697748 nonsense probably null
Z1176:Mmp7 UTSW 9 7695602 missense probably damaging 1.00
Z1177:Mmp7 UTSW 9 7695178 missense probably benign 0.03
Posted On 2013-12-03