Incidental Mutation 'IGL02154:Mmp3'
ID282157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp3
Ensembl Gene ENSMUSG00000043613
Gene Namematrix metallopeptidase 3
SynonymsStmy1, Str1, stromelysin 1, SLN-1, stromelysin-1, STR-1, progelatinase, SLN1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL02154
Quality Score
Status
Chromosome9
Chromosomal Location7445822-7455975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7453662 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 428 (I428L)
Ref Sequence ENSEMBL: ENSMUSP00000034497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034497]
Predicted Effect probably benign
Transcript: ENSMUST00000034497
AA Change: I428L

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: I428L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:PG_binding_1 29 89 1.7e-12 PFAM
ZnMc 107 267 6.24e-65 SMART
HX 298 340 4.56e-9 SMART
HX 342 385 2.87e-6 SMART
HX 390 437 4.73e-16 SMART
HX 439 479 3.3e-6 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 protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik G A 14: 49,772,942 T436I possibly damaging Het
Armc3 G A 2: 19,286,137 probably null Het
AW551984 G A 9: 39,589,102 R787C possibly damaging Het
Cadm1 A T 9: 47,813,903 I321L probably benign Het
Cfap57 A G 4: 118,613,017 L222P probably damaging Het
Cox20 A G 1: 178,322,554 I98V probably benign Het
Dmrta1 A G 4: 89,691,913 N370S probably benign Het
Dnah17 A G 11: 118,124,261 F386L probably benign Het
Fam135b T C 15: 71,448,710 I1323V probably benign Het
Fndc3b A G 3: 27,538,117 S211P probably damaging Het
Galnt10 T G 11: 57,784,705 L597V probably damaging Het
Gtf2e2 T C 8: 33,755,961 probably null Het
Inpp4b T A 8: 81,969,501 probably benign Het
Lacc1 A G 14: 77,033,287 V269A probably benign Het
Lrmp T G 6: 145,138,241 M44R possibly damaging Het
Mdn1 A G 4: 32,740,395 D3750G probably benign Het
Mme A T 3: 63,343,555 Q339L probably benign Het
Myrf A T 19: 10,216,118 I558N probably damaging Het
Olfr671 C T 7: 104,975,981 M1I probably null Het
Phb A G 11: 95,675,171 I94V possibly damaging Het
Prg4 T A 1: 150,454,862 probably benign Het
Sirpb1a T C 3: 15,410,444 T344A probably damaging Het
Skap2 T C 6: 52,012,328 probably benign Het
Slc29a1 A G 17: 45,586,163 I399T probably damaging Het
Sorl1 C T 9: 42,004,034 V1300I probably benign Het
Tas2r117 T C 6: 132,803,715 V272A probably benign Het
Tctn2 C A 5: 124,608,561 noncoding transcript Het
Tmem51 T C 4: 142,031,778 N220D probably damaging Het
Trak2 T C 1: 58,908,729 D584G probably damaging Het
Vmn1r78 A G 7: 12,152,545 I28V probably benign Het
Vmn2r95 A C 17: 18,451,986 I662L probably benign Het
Vwa8 C A 14: 78,849,293 R4S possibly damaging Het
Other mutations in Mmp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Mmp3 APN 9 7445894 utr 5 prime probably benign
IGL01738:Mmp3 APN 9 7446946 missense possibly damaging 0.94
IGL02212:Mmp3 APN 9 7450165 missense probably damaging 1.00
IGL02568:Mmp3 APN 9 7446001 missense probably benign 0.02
IGL03366:Mmp3 APN 9 7450149 missense probably benign 0.00
R0047:Mmp3 UTSW 9 7451910 splice site probably benign
R0047:Mmp3 UTSW 9 7451910 splice site probably benign
R0356:Mmp3 UTSW 9 7451768 missense probably benign 0.03
R0390:Mmp3 UTSW 9 7451320 missense probably benign 0.29
R0401:Mmp3 UTSW 9 7449790 missense probably damaging 1.00
R0466:Mmp3 UTSW 9 7450165 missense probably damaging 1.00
R0549:Mmp3 UTSW 9 7455638 missense probably benign 0.08
R0903:Mmp3 UTSW 9 7445994 missense probably benign 0.00
R1438:Mmp3 UTSW 9 7453705 missense probably benign 0.22
R1498:Mmp3 UTSW 9 7446967 missense possibly damaging 0.95
R1515:Mmp3 UTSW 9 7451232 missense probably benign 0.01
R1629:Mmp3 UTSW 9 7447641 missense probably benign 0.00
R1844:Mmp3 UTSW 9 7453662 missense probably benign 0.19
R1858:Mmp3 UTSW 9 7451799 missense probably benign 0.08
R2099:Mmp3 UTSW 9 7453672 missense probably benign 0.01
R2497:Mmp3 UTSW 9 7450131 missense probably benign 0.00
R2571:Mmp3 UTSW 9 7451844 missense possibly damaging 0.95
R4659:Mmp3 UTSW 9 7453673 missense probably benign 0.00
R4687:Mmp3 UTSW 9 7451223 missense probably benign 0.03
R4717:Mmp3 UTSW 9 7449881 missense possibly damaging 0.94
R4930:Mmp3 UTSW 9 7447640 missense probably benign 0.02
R4932:Mmp3 UTSW 9 7446994 missense probably benign 0.00
R5020:Mmp3 UTSW 9 7445984 missense probably benign
R5384:Mmp3 UTSW 9 7451759 nonsense probably null
R5385:Mmp3 UTSW 9 7451759 nonsense probably null
R5408:Mmp3 UTSW 9 7449904 missense probably damaging 0.98
R6268:Mmp3 UTSW 9 7447622 missense possibly damaging 0.78
X0022:Mmp3 UTSW 9 7449857 missense possibly damaging 0.55
Posted On2015-04-16