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 matrilysin, MAT
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL01522
Quality Score
Status
Chromosome 9
Chromosomal Location 7692091-7699586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7692229 bp (GRCm39)
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
Adamts12 T C 15: 11,065,245 (GRCm39) probably null Het
Adamts3 T C 5: 89,850,802 (GRCm39) N579S probably benign Het
Akr1c19 A G 13: 4,289,098 (GRCm39) probably benign Het
Ankrd39 T A 1: 36,581,142 (GRCm39) H69L probably damaging Het
Apcdd1 T A 18: 63,085,186 (GRCm39) M461K possibly damaging Het
Bpifa3 G A 2: 153,979,502 (GRCm39) C209Y probably damaging Het
Cep131 T C 11: 119,957,989 (GRCm39) E779G probably benign Het
Cep85 T C 4: 133,879,566 (GRCm39) Q394R probably damaging Het
Cep85 G T 4: 133,879,567 (GRCm39) Q394K probably damaging Het
Clcn6 T C 4: 148,101,992 (GRCm39) Y364C probably benign Het
Fetub G A 16: 22,748,391 (GRCm39) M1I probably null Het
Greb1 T C 12: 16,751,202 (GRCm39) I1003V probably damaging Het
Hsf3 A G X: 95,364,200 (GRCm39) probably benign Het
Jcad A G 18: 4,673,312 (GRCm39) N358S probably damaging Het
Kndc1 T C 7: 139,493,888 (GRCm39) probably benign Het
Lama1 A T 17: 68,059,769 (GRCm39) probably benign Het
Mark2 A G 19: 7,258,603 (GRCm39) V50A probably benign Het
Ndc80 A G 17: 71,806,320 (GRCm39) V578A probably benign Het
Nfyc T C 4: 120,638,721 (GRCm39) E42G probably damaging Het
Or1j15 A G 2: 36,459,233 (GRCm39) T208A probably benign Het
Or52b4 A T 7: 102,184,391 (GRCm39) I146F probably damaging Het
Or5d37 T C 2: 87,923,360 (GRCm39) K307E possibly damaging Het
Or8g21 A T 9: 38,906,396 (GRCm39) C112S probably benign Het
Or9i16 A T 19: 13,864,722 (GRCm39) L284* probably null Het
Pcdha11 T C 18: 37,318,061 (GRCm39) F925L probably damaging Het
Pdcd1 T G 1: 93,968,571 (GRCm39) R154S probably benign Het
Pepd T A 7: 34,623,865 (GRCm39) D87E probably benign Het
Pfn4 A G 12: 4,820,240 (GRCm39) T30A probably benign Het
Pgpep1l A G 7: 67,887,456 (GRCm39) M48T possibly damaging Het
Pla2g15 A G 8: 106,889,748 (GRCm39) N340S probably benign Het
Plcb4 A G 2: 135,844,547 (GRCm39) D155G probably damaging Het
Plg G A 17: 12,622,956 (GRCm39) G499S probably damaging Het
Plin3 C T 17: 56,587,799 (GRCm39) W305* probably null Het
Polq C A 16: 36,848,265 (GRCm39) L291I probably damaging Het
Sanbr A G 11: 23,532,865 (GRCm39) probably null Het
Sdf2l1 T A 16: 16,950,014 (GRCm39) H54L probably damaging Het
Slc38a2 C T 15: 96,590,936 (GRCm39) D276N possibly damaging Het
Syk A G 13: 52,797,097 (GRCm39) T576A probably benign Het
Tas2r119 G A 15: 32,178,339 (GRCm39) V302I probably benign Het
Uso1 T C 5: 92,329,278 (GRCm39) F389L probably damaging Het
Wwc2 T A 8: 48,321,668 (GRCm39) Y482F unknown Het
Other mutations in Mmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Mmp7 APN 9 7,699,335 (GRCm39) splice site probably benign
R1740:Mmp7 UTSW 9 7,695,278 (GRCm39) missense possibly damaging 0.92
R3118:Mmp7 UTSW 9 7,697,693 (GRCm39) missense probably benign
R3195:Mmp7 UTSW 9 7,692,219 (GRCm39) missense probably benign 0.03
R3196:Mmp7 UTSW 9 7,692,219 (GRCm39) missense probably benign 0.03
R4595:Mmp7 UTSW 9 7,697,667 (GRCm39) missense probably damaging 1.00
R5941:Mmp7 UTSW 9 7,697,646 (GRCm39) missense probably damaging 1.00
R6193:Mmp7 UTSW 9 7,695,519 (GRCm39) missense probably damaging 1.00
R6564:Mmp7 UTSW 9 7,695,185 (GRCm39) missense probably benign 0.02
R6995:Mmp7 UTSW 9 7,695,489 (GRCm39) missense probably damaging 0.98
R7146:Mmp7 UTSW 9 7,697,587 (GRCm39) critical splice acceptor site probably null
R7398:Mmp7 UTSW 9 7,697,594 (GRCm39) missense probably damaging 1.00
R7768:Mmp7 UTSW 9 7,697,749 (GRCm39) nonsense probably null
R9104:Mmp7 UTSW 9 7,697,947 (GRCm39) intron probably benign
R9250:Mmp7 UTSW 9 7,697,885 (GRCm39) intron probably benign
Z1176:Mmp7 UTSW 9 7,695,603 (GRCm39) missense probably damaging 1.00
Z1177:Mmp7 UTSW 9 7,695,179 (GRCm39) missense probably benign 0.03
Posted On 2013-12-03