Incidental Mutation 'IGL01462:Mmp28'
ID88007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp28
Ensembl Gene ENSMUSG00000020682
Gene Namematrix metallopeptidase 28 (epilysin)
Synonymsepilysin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL01462
Quality Score
Status
Chromosome11
Chromosomal Location83440768-83463071 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83443776 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 384 (D384G)
Ref Sequence ENSEMBL: ENSMUSP00000103772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021020] [ENSMUST00000037378] [ENSMUST00000103209] [ENSMUST00000108137] [ENSMUST00000119346] [ENSMUST00000188702]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021020
AA Change: D374G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682
AA Change: D374G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PG_binding_1 31 86 1e-11 PFAM
low complexity region 114 125 N/A INTRINSIC
ZnMc 126 285 3.92e-39 SMART
HX 328 361 7.46e0 SMART
HX 363 406 1.64e-1 SMART
HX 408 454 1.78e-2 SMART
HX 456 500 5.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000037378
SMART Domains Protein: ENSMUSP00000042098
Gene: ENSMUSG00000035085

DomainStartEndE-ValueType
Pfam:DUF4637 5 169 1.3e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103209
AA Change: D360G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682
AA Change: D360G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PG_binding_1 31 86 9.7e-12 PFAM
low complexity region 114 125 N/A INTRINSIC
ZnMc 126 285 3.92e-39 SMART
HX 349 392 1.64e-1 SMART
HX 394 440 1.78e-2 SMART
HX 442 486 5.79e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108137
AA Change: D384G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682
AA Change: D384G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PG_binding_1 31 86 2.6e-11 PFAM
low complexity region 114 125 N/A INTRINSIC
ZnMc 126 285 3.92e-39 SMART
HX 328 371 2.72e-7 SMART
HX 373 416 1.64e-1 SMART
HX 418 464 1.78e-2 SMART
HX 466 510 5.79e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119346
AA Change: D384G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682
AA Change: D384G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PG_binding_1 31 86 7.4e-12 PFAM
low complexity region 114 125 N/A INTRINSIC
ZnMc 126 285 3.92e-39 SMART
HX 328 371 2.72e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188702
SMART Domains Protein: ENSMUSP00000140664
Gene: ENSMUSG00000035085

DomainStartEndE-ValueType
Pfam:DUF4637 6 111 2.8e-48 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Null homozygote mice have enhanced chemotaxis of macrophages into the lung upon infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,894,266 A30S probably benign Het
Aspg A G 12: 112,122,953 T392A probably benign Het
Atp8b5 C A 4: 43,368,010 Q878K possibly damaging Het
Ccdc85a G T 11: 28,576,506 H339Q probably damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cog4 C T 8: 110,866,085 T430M probably benign Het
Col6a5 A G 9: 105,946,075 Y28H unknown Het
Cth A T 3: 157,905,167 Y343N probably damaging Het
Dctn3 A T 4: 41,719,854 L84* probably null Het
Epha5 A T 5: 84,071,233 I868N probably damaging Het
Ephb2 T C 4: 136,771,370 N133D possibly damaging Het
Epor G A 9: 21,959,456 P376L probably damaging Het
Gsdme A G 6: 50,227,374 V201A possibly damaging Het
Hdgf G A 3: 87,914,524 E149K possibly damaging Het
Lrrfip2 T C 9: 111,205,849 probably null Het
Ly6g6d T C 17: 35,074,250 I40V probably benign Het
Mlh3 G A 12: 85,266,736 T892I probably benign Het
Mmp19 C T 10: 128,798,142 T304I probably damaging Het
Moxd1 T C 10: 24,244,388 probably null Het
Ncapg T C 5: 45,671,135 V76A probably benign Het
Nos1 C T 5: 117,867,709 R165C probably benign Het
Olfr376 T C 11: 73,374,752 M1T probably null Het
Olfr47 A G 6: 43,235,625 T6A possibly damaging Het
Pik3c2a T A 7: 116,376,250 H694L possibly damaging Het
Psme2 A G 14: 55,589,671 L60P probably damaging Het
Ptpn23 A G 9: 110,408,107 V4A probably benign Het
Rgr G T 14: 37,044,609 T160K probably damaging Het
Serpind1 A G 16: 17,336,923 I205V probably benign Het
Skap2 T C 6: 51,921,300 Y150C probably damaging Het
Soga3 T G 10: 29,148,258 L390R probably damaging Het
Srsf9 T C 5: 115,332,128 S122P probably damaging Het
Stox1 T G 10: 62,664,682 I700L probably benign Het
Tada1 A G 1: 166,388,725 D165G probably damaging Het
Traf5 A G 1: 191,999,867 S338P probably benign Het
Trim39 G A 17: 36,263,725 probably benign Het
Wbp2 G A 11: 116,081,240 A130V possibly damaging Het
Zcchc17 T C 4: 130,337,109 K96E probably benign Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Mmp28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02559:Mmp28 APN 11 83447740 missense probably benign 0.00
R0399:Mmp28 UTSW 11 83451732 missense probably damaging 1.00
R0492:Mmp28 UTSW 11 83443803 missense probably damaging 1.00
R1432:Mmp28 UTSW 11 83442939 missense probably damaging 1.00
R1822:Mmp28 UTSW 11 83444219 missense probably damaging 0.99
R2181:Mmp28 UTSW 11 83442717 missense possibly damaging 0.92
R5346:Mmp28 UTSW 11 83442663 missense probably benign
R5532:Mmp28 UTSW 11 83442858 missense probably damaging 1.00
R5548:Mmp28 UTSW 11 83443907 nonsense probably null
Posted On2013-11-18