Incidental Mutation 'IGL02814:Mmp25'
ID360727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp25
Ensembl Gene ENSMUSG00000023903
Gene Namematrix metallopeptidase 25
SynonymsLeukolysin, MT6-MMP, F730048C11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02814
Quality Score
Status
Chromosome17
Chromosomal Location23629458-23645269 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23639762 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 272 (G272R)
Ref Sequence ENSEMBL: ENSMUSP00000024696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024696]
Predicted Effect probably damaging
Transcript: ENSMUST00000024696
AA Change: G272R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024696
Gene: ENSMUSG00000023903
AA Change: G272R

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
Pfam:PG_binding_1 82 140 8.8e-12 PFAM
ZnMc 166 335 1.68e-47 SMART
low complexity region 343 369 N/A INTRINSIC
HX 375 419 6.35e-8 SMART
HX 424 466 1.62e-5 SMART
HX 470 516 1.64e-10 SMART
HX 518 562 2.79e-4 SMART
low complexity region 572 581 N/A INTRINSIC
low complexity region 597 607 N/A INTRINSIC
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 precursor undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700081O15Rik C A 19: 7,420,422 N111K possibly damaging Het
Abca9 A T 11: 110,154,467 F347I possibly damaging Het
Adcy5 A G 16: 35,303,649 T1233A probably benign Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Cadps2 T C 6: 23,321,707 E1083G probably damaging Het
Capn8 C A 1: 182,598,771 L224M probably damaging Het
Cdh4 A T 2: 179,780,474 E130D probably benign Het
Cgn G A 3: 94,774,240 T515M probably benign Het
Chrna10 C T 7: 102,112,262 G374D probably benign Het
Chrnb1 T A 11: 69,795,680 Y38F probably damaging Het
Cyld A G 8: 88,744,897 D621G probably benign Het
Cyp4f37 T C 17: 32,634,671 F443S probably benign Het
Dctn1 C A 6: 83,189,914 A152E probably damaging Het
Eml4 T A 17: 83,441,362 Y228* probably null Het
Fbln2 T A 6: 91,265,857 C846* probably null Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gart T C 16: 91,623,457 S833G possibly damaging Het
Gda T C 19: 21,428,475 probably null Het
Gjb5 C T 4: 127,355,562 R263Q probably benign Het
Gtf2i T C 5: 134,286,704 K193E probably damaging Het
Hist2h4 C A 3: 96,263,287 K6N probably benign Het
Ints1 C T 5: 139,772,391 E244K possibly damaging Het
Kat14 G A 2: 144,402,463 S412N probably benign Het
Kcnn3 A T 3: 89,521,175 H236L possibly damaging Het
Kif15 T A 9: 123,003,640 I1005K possibly damaging Het
Klrc1 T C 6: 129,678,892 T7A possibly damaging Het
Lcp2 T C 11: 34,071,033 S130P probably damaging Het
Ldha T A 7: 46,850,891 Y133* probably null Het
Lrp2 A G 2: 69,506,736 C1231R probably damaging Het
Lrrn1 T A 6: 107,567,352 V37D probably damaging Het
Mep1a T A 17: 43,477,221 H648L probably benign Het
Myh15 A G 16: 49,145,438 probably benign Het
Myl3 G T 9: 110,767,991 E140* probably null Het
Nlrp4f A G 13: 65,185,042 S809P probably damaging Het
Nrde2 T C 12: 100,144,135 I207M probably null Het
Olfr1373 C T 11: 52,144,810 C240Y probably damaging Het
Olfr474 T C 7: 107,954,770 I43T probably benign Het
Olfr541 T C 7: 140,705,133 L294P probably damaging Het
Paics T G 5: 76,962,473 V245G probably damaging Het
Pank1 A G 19: 34,840,855 F95L probably damaging Het
Pde4dip A C 3: 97,767,100 C167G probably damaging Het
Picalm C A 7: 90,191,749 T542K possibly damaging Het
Piezo1 A G 8: 122,498,215 Y651H probably damaging Het
Pikfyve T A 1: 65,250,194 C1208* probably null Het
Pkd1l1 T A 11: 8,902,582 T634S probably benign Het
Rab32 T C 10: 10,546,427 T183A probably benign Het
Rad18 T C 6: 112,644,622 I206V possibly damaging Het
Rbm15b T C 9: 106,885,776 I398V probably benign Het
Rbm28 T C 6: 29,159,726 E101G probably benign Het
Rsf1 T C 7: 97,661,227 L388P probably damaging Het
Scnn1g A G 7: 121,740,365 Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 C330Y probably benign Het
Spock1 A T 13: 57,587,673 V101E probably damaging Het
Sympk T A 7: 19,053,273 W1029R probably damaging Het
Syne2 T A 12: 75,945,376 H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 Y199N probably damaging Het
Trim10 T A 17: 36,877,336 C481* probably null Het
Vmn2r102 A G 17: 19,677,908 E395G probably damaging Het
Wfs1 A C 5: 36,967,669 V626G possibly damaging Het
Zfp689 A G 7: 127,445,021 S146P possibly damaging Het
Zfp786 T C 6: 47,819,841 H721R probably damaging Het
Other mutations in Mmp25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02893:Mmp25 APN 17 23644051 missense probably damaging 1.00
R0471:Mmp25 UTSW 17 23639884 missense possibly damaging 0.73
R0478:Mmp25 UTSW 17 23632782 missense probably benign 0.08
R1829:Mmp25 UTSW 17 23640023 missense probably benign 0.00
R2005:Mmp25 UTSW 17 23640242 missense probably damaging 1.00
R2151:Mmp25 UTSW 17 23631074 missense probably damaging 1.00
R2153:Mmp25 UTSW 17 23631074 missense probably damaging 1.00
R2154:Mmp25 UTSW 17 23631074 missense probably damaging 1.00
R2937:Mmp25 UTSW 17 23644791 missense probably benign 0.00
R4418:Mmp25 UTSW 17 23644070 missense probably damaging 1.00
R4667:Mmp25 UTSW 17 23644607 missense probably benign 0.00
R4905:Mmp25 UTSW 17 23644048 nonsense probably null
R5535:Mmp25 UTSW 17 23644760 missense probably benign
R5592:Mmp25 UTSW 17 23640202 missense possibly damaging 0.95
R5888:Mmp25 UTSW 17 23631074 missense probably damaging 1.00
R6261:Mmp25 UTSW 17 23630794 missense possibly damaging 0.61
R6263:Mmp25 UTSW 17 23630794 missense possibly damaging 0.61
R6264:Mmp25 UTSW 17 23630794 missense possibly damaging 0.61
R6571:Mmp25 UTSW 17 23639896 missense probably benign 0.17
R7172:Mmp25 UTSW 17 23644788 missense probably benign
R7467:Mmp25 UTSW 17 23644782 missense possibly damaging 0.53
R8109:Mmp25 UTSW 17 23644794 missense probably benign 0.00
T0722:Mmp25 UTSW 17 23631218 missense possibly damaging 0.94
Z1176:Mmp25 UTSW 17 23630659 missense probably damaging 1.00
Z1177:Mmp25 UTSW 17 23644137 missense possibly damaging 0.76
Posted On2015-12-18