Incidental Mutation 'IGL02967:Mmp27'
ID365658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp27
Ensembl Gene ENSMUSG00000070323
Gene Namematrix metallopeptidase 27
SynonymsLOC234911
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL02967
Quality Score
Status
Chromosome9
Chromosomal Location7571396-7581885 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 7571590 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 45 (Q45K)
Ref Sequence ENSEMBL: ENSMUSP00000117469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018765] [ENSMUST00000120900] [ENSMUST00000151853]
Predicted Effect probably benign
Transcript: ENSMUST00000018765
SMART Domains Protein: ENSMUSP00000018765
Gene: ENSMUSG00000005800

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
AA Change: Q45K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: Q45K

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
AA Change: Q45K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: Q45K

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 unknown
Transcript: ENSMUST00000152878
AA Change: Q43K
SMART Domains Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: Q43K

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: [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 in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,291 T3455A probably damaging Het
Abca8a G A 11: 110,050,936 P1169L probably damaging Het
Ablim3 T A 18: 61,826,503 K272* probably null Het
Acin1 A G 14: 54,642,753 V574A possibly damaging Het
Acot4 A T 12: 84,043,461 I311L probably benign Het
Akap9 C T 5: 3,976,164 A1273V probably benign Het
Ap1g2 T A 14: 55,105,022 probably benign Het
Apob A T 12: 8,015,366 K4112* probably null Het
Aspdh A G 7: 44,465,539 probably null Het
Atf7ip T C 6: 136,606,727 I1252T probably damaging Het
Avpr1a A G 10: 122,449,462 T220A possibly damaging Het
Bdp1 A G 13: 100,042,270 F1856S possibly damaging Het
Btbd11 A G 10: 85,633,782 T856A probably benign Het
Cit A T 5: 115,945,837 N743I probably benign Het
Clvs2 T C 10: 33,595,788 K174E probably damaging Het
Cyp4f40 A T 17: 32,674,248 Q351L probably damaging Het
Dmbt1 G T 7: 131,071,189 V550L possibly damaging Het
Edem1 T G 6: 108,836,777 S178A probably damaging Het
Fam222b C T 11: 78,154,108 A165V probably benign Het
Fer T C 17: 63,896,267 V64A possibly damaging Het
Fggy T G 4: 95,926,749 F535C possibly damaging Het
Fkbp15 A T 4: 62,304,390 S1091T probably damaging Het
Fstl5 G A 3: 76,322,191 V100M probably damaging Het
Fut7 G T 2: 25,425,143 V91L probably damaging Het
Gemin4 A T 11: 76,212,241 C565S probably damaging Het
Gzmm C T 10: 79,695,063 T233I possibly damaging Het
Hps5 A T 7: 46,769,380 L789Q possibly damaging Het
Krt32 G A 11: 100,084,050 S357F possibly damaging Het
Lrig2 C T 3: 104,494,196 probably benign Het
Lrp8 C A 4: 107,861,234 Q678K probably benign Het
Myh1 A G 11: 67,209,070 D602G possibly damaging Het
Ncoa1 G T 12: 4,295,294 H684Q probably damaging Het
Nol9 T C 4: 152,041,102 V170A possibly damaging Het
Notch2 A G 3: 98,146,144 D2041G probably damaging Het
Nrg3 G T 14: 38,668,299 probably benign Het
Nuak1 T A 10: 84,440,221 H46L probably damaging Het
Pdzd2 G T 15: 12,374,341 Q1903K probably benign Het
Pik3c2g T C 6: 139,967,828 V616A probably damaging Het
Ppp6c A G 2: 39,226,217 Y9H probably damaging Het
Prdm11 A T 2: 93,012,889 F75Y probably damaging Het
Prelid1 G A 13: 55,324,406 V132I probably benign Het
Prom1 A G 5: 44,044,398 S227P probably damaging Het
Psmb5 G A 14: 54,616,626 R132C probably benign Het
Pus10 A G 11: 23,718,602 N360D probably damaging Het
Pygm G A 19: 6,393,838 V610M probably damaging Het
Setd1a A G 7: 127,785,177 probably benign Het
Sfmbt1 T A 14: 30,816,802 W793R probably damaging Het
Slc25a4 A G 8: 46,209,150 L157P probably damaging Het
Sost T G 11: 101,964,258 E75A possibly damaging Het
Tdrd9 A G 12: 111,992,488 S119G possibly damaging Het
Tepsin A G 11: 120,094,128 I238T probably benign Het
Tfr2 T A 5: 137,582,819 L507* probably null Het
Tmem106a T C 11: 101,586,295 I110T possibly damaging Het
Tmem38a A T 8: 72,586,082 D298V possibly damaging Het
Tmprss12 A T 15: 100,285,381 R201S probably benign Het
Ugt2b36 T C 5: 87,090,900 T271A possibly damaging Het
Virma T G 4: 11,514,096 V650G probably benign Het
Vmn1r220 A T 13: 23,183,992 I178N probably damaging Het
Zfp609 A G 9: 65,697,619 S1276P possibly damaging Het
Zfp809 A G 9: 22,235,102 Y29C probably damaging Het
Other mutations in Mmp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Mmp27 APN 9 7573504 splice site probably benign
IGL00656:Mmp27 APN 9 7581382 missense possibly damaging 0.80
IGL00937:Mmp27 APN 9 7578899 critical splice acceptor site probably benign 0.00
IGL01101:Mmp27 APN 9 7573415 missense probably damaging 1.00
IGL01134:Mmp27 APN 9 7573297 missense probably benign 0.06
IGL01631:Mmp27 APN 9 7573288 critical splice acceptor site probably benign 0.00
IGL03024:Mmp27 APN 9 7581376 missense probably benign 0.17
R0662:Mmp27 UTSW 9 7577650 missense probably benign 0.00
R0715:Mmp27 UTSW 9 7581155 splice site probably benign
R0826:Mmp27 UTSW 9 7579009 missense probably damaging 1.00
R1191:Mmp27 UTSW 9 7579066 splice site probably null
R1793:Mmp27 UTSW 9 7571458 start codon destroyed probably null 0.00
R1983:Mmp27 UTSW 9 7578897 splice site probably null
R2074:Mmp27 UTSW 9 7577739 missense possibly damaging 0.50
R2172:Mmp27 UTSW 9 7577378 nonsense probably null
R2445:Mmp27 UTSW 9 7581181 missense probably benign 0.12
R2961:Mmp27 UTSW 9 7573602 missense probably damaging 1.00
R4825:Mmp27 UTSW 9 7581194 missense probably damaging 1.00
R4888:Mmp27 UTSW 9 7581368 missense probably benign 0.00
R4938:Mmp27 UTSW 9 7578982 missense probably damaging 0.97
R5095:Mmp27 UTSW 9 7572158 missense probably damaging 1.00
R5095:Mmp27 UTSW 9 7579000 missense probably damaging 1.00
R5121:Mmp27 UTSW 9 7581368 missense probably benign 0.00
R5446:Mmp27 UTSW 9 7573515 splice site probably benign
R5485:Mmp27 UTSW 9 7573362 missense probably damaging 1.00
R5516:Mmp27 UTSW 9 7579062 missense probably null 1.00
R6682:Mmp27 UTSW 9 7573605 missense probably benign 0.02
R6712:Mmp27 UTSW 9 7572176 missense probably damaging 1.00
R6737:Mmp27 UTSW 9 7571954 missense possibly damaging 0.78
R7282:Mmp27 UTSW 9 7578230 missense probably damaging 0.98
R7368:Mmp27 UTSW 9 7577317 missense probably damaging 1.00
R7689:Mmp27 UTSW 9 7579001 missense probably damaging 1.00
R8006:Mmp27 UTSW 9 7578984 missense probably damaging 0.97
X0021:Mmp27 UTSW 9 7573298 missense probably damaging 1.00
Posted On2015-12-18