Incidental Mutation 'IGL01317:Mmp14'
ID73882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp14
Ensembl Gene ENSMUSG00000000957
Gene Namematrix metallopeptidase 14 (membrane-inserted)
Synonymssabe, Membrane type 1-MMP, MT1-MMP
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.932) question?
Stock #IGL01317
Quality Score
Status
Chromosome14
Chromosomal Location54431612-54445364 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54435790 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 52 (T52A)
Ref Sequence ENSEMBL: ENSMUSP00000153679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089688] [ENSMUST00000196155] [ENSMUST00000197874] [ENSMUST00000225641]
Predicted Effect probably benign
Transcript: ENSMUST00000089688
AA Change: T52A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: T52A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:PG_binding_1 36 88 2.1e-12 PFAM
ZnMc 115 285 6.01e-58 SMART
HX 323 366 3.97e-9 SMART
HX 368 412 1.42e-10 SMART
HX 415 461 4.45e-12 SMART
HX 463 508 1.61e-9 SMART
Pfam:DUF3377 512 582 2.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196155
Predicted Effect probably benign
Transcript: ENSMUST00000197874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198679
Predicted Effect possibly damaging
Transcript: ENSMUST00000225641
AA Change: T52A

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226710
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. Mice lacking the encoded protein exhibit craniofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibrosis of soft tissues. [provided by RefSeq, Feb 2016]
PHENOTYPE: Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,872,581 D609E probably damaging Het
Aldh3b1 T C 19: 3,918,104 I352V probably benign Het
Apeh A T 9: 108,086,207 S605R probably benign Het
Arhgap32 A G 9: 32,256,964 K748E probably benign Het
Avpr1a T C 10: 122,449,567 S255P probably benign Het
Cadps2 T A 6: 23,314,173 D1124V possibly damaging Het
Cask C T X: 13,522,260 E83K probably damaging Het
Ccdc129 G T 6: 55,967,805 A504S possibly damaging Het
Cep170b A G 12: 112,737,644 Y670C probably damaging Het
Chd3 A G 11: 69,353,211 Y1343H probably damaging Het
Cit T A 5: 115,908,716 V396D probably benign Het
Cldn18 T C 9: 99,696,082 T203A probably benign Het
Dido1 A C 2: 180,671,757 N907K probably benign Het
Dmbt1 T A 7: 131,041,191 D246E probably damaging Het
Dph1 T C 11: 75,180,660 H303R probably benign Het
Dspp T A 5: 104,174,048 Y8N probably damaging Het
Efhc2 C T X: 17,204,959 probably benign Het
Fam160a1 T C 3: 85,672,846 D684G probably benign Het
Fam171a1 T A 2: 3,202,626 V215E probably damaging Het
Foxm1 T A 6: 128,367,353 M22K probably damaging Het
Gdpd4 A C 7: 97,998,258 M371L possibly damaging Het
Hdac9 T C 12: 34,429,489 probably benign Het
Heatr1 T A 13: 12,399,027 W162R probably damaging Het
Hydin A T 8: 110,326,446 D250V probably damaging Het
Itga4 T A 2: 79,322,661 C897* probably null Het
Kcnd2 T C 6: 21,727,340 *631Q probably null Het
Kcnn2 A G 18: 45,560,627 probably null Het
Lama1 A T 17: 67,818,701 E2951V probably damaging Het
Lyst A G 13: 13,670,870 Q1944R probably benign Het
Mrgpra1 A T 7: 47,335,624 N102K probably benign Het
Mrpl28 G A 17: 26,125,515 G205D probably damaging Het
Mtmr4 T C 11: 87,602,404 probably benign Het
Olfr1308 T A 2: 111,960,275 H266L possibly damaging Het
Oog2 A G 4: 144,195,267 N249S probably benign Het
Ppp6r2 T A 15: 89,285,928 V882E possibly damaging Het
Qser1 A C 2: 104,786,979 Y1073D probably damaging Het
Rbl2 C A 8: 91,100,057 D480E probably damaging Het
Rfx7 G A 9: 72,618,536 G1003S probably damaging Het
Rrh A C 3: 129,822,425 F20V possibly damaging Het
Rwdd3 A G 3: 121,171,633 I15T possibly damaging Het
Sestd1 A T 2: 77,192,545 M493K possibly damaging Het
Slc17a8 T A 10: 89,620,804 L32F probably benign Het
Slc29a4 A G 5: 142,705,530 D55G probably benign Het
Tbc1d10a A T 11: 4,212,826 Y223F probably benign Het
Tbx20 A G 9: 24,769,755 V147A probably damaging Het
Tmem63c A T 12: 87,071,996 probably benign Het
Tmtc2 C A 10: 105,413,785 R29L probably damaging Het
Ttc21b T A 2: 66,188,356 M1236L probably benign Het
Unc119 T A 11: 78,347,226 C12S probably damaging Het
Vcan A G 13: 89,691,668 M1919T probably benign Het
Zmat4 C A 8: 23,902,169 T47K probably benign Het
Other mutations in Mmp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Mmp14 APN 14 54437596 splice site probably benign
IGL02565:Mmp14 APN 14 54440557 missense probably benign 0.02
cartoon UTSW 14 54439999 missense probably damaging 0.96
IGL03134:Mmp14 UTSW 14 54439106 missense probably damaging 1.00
R0053:Mmp14 UTSW 14 54438652 splice site probably benign
R0053:Mmp14 UTSW 14 54438652 splice site probably benign
R0538:Mmp14 UTSW 14 54438709 missense possibly damaging 0.47
R0612:Mmp14 UTSW 14 54440434 missense probably damaging 1.00
R2352:Mmp14 UTSW 14 54440545 missense probably benign 0.30
R3700:Mmp14 UTSW 14 54431932 unclassified probably benign
R4289:Mmp14 UTSW 14 54436208 nonsense probably null
R4888:Mmp14 UTSW 14 54436205 missense probably damaging 0.98
R5068:Mmp14 UTSW 14 54439113 missense probably damaging 1.00
R5069:Mmp14 UTSW 14 54439113 missense probably damaging 1.00
R5070:Mmp14 UTSW 14 54439113 missense probably damaging 1.00
R5216:Mmp14 UTSW 14 54437663 missense possibly damaging 0.82
R5607:Mmp14 UTSW 14 54439412 missense probably damaging 1.00
R6053:Mmp14 UTSW 14 54435890 missense probably benign 0.39
R6477:Mmp14 UTSW 14 54437658 missense probably damaging 1.00
R7153:Mmp14 UTSW 14 54436251 missense possibly damaging 0.93
R7212:Mmp14 UTSW 14 54435879 missense probably damaging 1.00
R7555:Mmp14 UTSW 14 54437742 missense possibly damaging 0.96
X0064:Mmp14 UTSW 14 54431946 missense possibly damaging 0.94
Posted On2013-10-07