Incidental Mutation 'IGL01937:Mmp14'
ID180734
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: 0.936) question?
Stock #IGL01937
Quality Score
Status
Chromosome14
Chromosomal Location54431612-54445364 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 54437596 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089688] [ENSMUST00000196155] [ENSMUST00000197874] [ENSMUST00000225641]
Predicted Effect probably benign
Transcript: ENSMUST00000089688
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957

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 probably benign
Transcript: ENSMUST00000225641
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Abcb11 G T 2: 69,287,612 P474H probably damaging Het
Actn1 T C 12: 80,171,763 N749S probably benign Het
Atf7ip2 T A 16: 10,241,537 probably null Het
Brinp3 A T 1: 146,901,140 T442S probably benign Het
Cdh7 A G 1: 110,138,096 N700S probably benign Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
D430042O09Rik A G 7: 125,854,605 T1165A probably benign Het
Dlc1 G T 8: 36,850,191 S443R probably benign Het
Evi2b T A 11: 79,516,067 K227N probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Hemgn T C 4: 46,396,057 Y393C probably damaging Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Olfr1080 A G 2: 86,553,449 V225A probably benign Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Pcnx3 A G 19: 5,677,663 V1031A probably benign Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Ppa1 G A 10: 61,665,436 V161M probably benign Het
Prrc2a A C 17: 35,155,591 I1361S possibly damaging Het
Psmd6 A T 14: 14,116,169 S140T probably benign Het
Ptprm A G 17: 67,046,163 probably benign Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rfx3 A T 19: 27,830,729 Y205N probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Selenop C T 15: 3,279,268 T234M probably benign Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Vmn2r84 A G 10: 130,385,886 C822R probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Mmp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Mmp14 APN 14 54435790 missense possibly damaging 0.60
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 On2014-05-07