Incidental Mutation 'IGL01802:Mmp8'
ID155548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp8
Ensembl Gene ENSMUSG00000005800
Gene Namematrix metallopeptidase 8
SynonymsCollagenase-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01802
Quality Score
Status
Chromosome9
Chromosomal Location7558456-7568485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 7567440 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 434 (F434V)
Ref Sequence ENSEMBL: ENSMUSP00000018765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018765] [ENSMUST00000120900] [ENSMUST00000151853]
Predicted Effect probably benign
Transcript: ENSMUST00000018765
AA Change: F434V

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800
AA Change: F434V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:PG_binding_1 28 86 2e-13 PFAM
ZnMc 104 263 4.38e-60 SMART
HX 285 327 7.51e-10 SMART
HX 329 372 2.16e-10 SMART
HX 377 422 5.91e-17 SMART
HX 424 464 2.99e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120900
SMART Domains Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323

DomainStartEndE-ValueType
Pfam:PG_binding_1 40 100 1e-13 PFAM
ZnMc 116 277 1.76e-50 SMART
HX 300 342 5.97e-4 SMART
HX 344 386 1.1e-7 SMART
HX 391 438 1.09e-6 SMART
HX 440 480 3.2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151853
SMART Domains Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323

DomainStartEndE-ValueType
Pfam:PG_binding_1 40 100 1.1e-13 PFAM
ZnMc 116 303 1.81e-43 SMART
HX 326 368 5.97e-4 SMART
HX 370 412 1.1e-7 SMART
HX 417 464 1.09e-6 SMART
HX 466 506 3.2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152878
SMART Domains Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323

DomainStartEndE-ValueType
Pfam:PG_binding_1 39 99 1.1e-13 PFAM
ZnMc 115 295 1.41e-13 SMART
HX 245 287 5.97e-4 SMART
HX 289 331 1.1e-7 SMART
HX 336 383 1.09e-6 SMART
HX 385 425 3.2e-4 SMART
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 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
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,292,438 M1434L probably benign Het
Acta2 T A 19: 34,243,436 I291F possibly damaging Het
Arhgap10 A G 8: 77,420,085 I230T probably damaging Het
Copb1 A C 7: 114,226,776 S658A probably benign Het
Crtc3 A T 7: 80,604,368 C244* probably null Het
Cyp4a14 G A 4: 115,494,937 R93* probably null Het
Dclk2 A G 3: 86,799,027 F586L probably damaging Het
Dmtn G T 14: 70,604,819 F358L probably damaging Het
Enam A T 5: 88,503,674 H1014L possibly damaging Het
Ercc6 A G 14: 32,562,574 T765A probably damaging Het
Gtf3c4 T C 2: 28,834,080 K547E probably damaging Het
Hdc G T 2: 126,603,894 A230D probably benign Het
Hipk3 A T 2: 104,471,853 probably benign Het
Kidins220 A G 12: 24,995,000 I264M probably damaging Het
Lrp1b C T 2: 41,511,482 V387I probably benign Het
Nr3c2 C A 8: 76,908,595 Y108* probably null Het
Olfr1475 T C 19: 13,479,365 M278V probably benign Het
Olfr729 T G 14: 50,148,716 S53R probably benign Het
Pnpt1 A T 11: 29,154,306 D560V probably damaging Het
Rbbp8nl T C 2: 180,279,695 S299G probably benign Het
Rnf165 A T 18: 77,462,914 L106Q probably damaging Het
Slc9a4 A T 1: 40,607,798 N484I probably damaging Het
Sncaip C T 18: 52,869,037 S210F probably damaging Het
Tiam1 G T 16: 89,898,372 Q66K possibly damaging Het
Ttc39a C A 4: 109,433,084 Y330* probably null Het
Ush2a T G 1: 188,436,957 D1098E probably damaging Het
Vmn2r103 A G 17: 19,799,208 E518G probably benign Het
Other mutations in Mmp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Mmp8 APN 9 7560505 missense probably damaging 0.97
IGL03013:Mmp8 APN 9 7561689 missense probably benign 0.00
IGL03032:Mmp8 APN 9 7558529 utr 5 prime probably benign
R0310:Mmp8 UTSW 9 7561454 missense probably benign 0.02
R1444:Mmp8 UTSW 9 7567263 missense probably benign 0.02
R1511:Mmp8 UTSW 9 7566278 missense probably damaging 0.98
R2010:Mmp8 UTSW 9 7567534 nonsense probably null
R4705:Mmp8 UTSW 9 7565549 missense probably benign 0.06
R5287:Mmp8 UTSW 9 7567506 missense probably benign 0.05
R5521:Mmp8 UTSW 9 7560643 missense probably benign 0.16
R5589:Mmp8 UTSW 9 7566274 missense probably damaging 1.00
R5927:Mmp8 UTSW 9 7563202 missense possibly damaging 0.94
R7123:Mmp8 UTSW 9 7563195 missense probably damaging 1.00
R7298:Mmp8 UTSW 9 7560448 missense probably damaging 1.00
R7489:Mmp8 UTSW 9 7561387 missense probably benign 0.04
R7554:Mmp8 UTSW 9 7563111 missense probably damaging 1.00
R7625:Mmp8 UTSW 9 7566217 missense probably benign 0.00
R7896:Mmp8 UTSW 9 7564977 missense probably damaging 0.98
Posted On2014-02-04