Incidental Mutation 'R7212:Mmp14'
ID 561169
Institutional Source Beutler Lab
Gene Symbol Mmp14
Ensembl Gene ENSMUSG00000000957
Gene Name matrix metallopeptidase 14 (membrane-inserted)
Synonyms sabe, Membrane type 1-MMP, MT1-MMP
MMRRC Submission 045340-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R7212 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54669055-54679913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 54673336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 81 (D81E)
Ref Sequence ENSEMBL: ENSMUSP00000087119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089688] [ENSMUST00000196155] [ENSMUST00000197874] [ENSMUST00000225641]
AlphaFold P53690
Predicted Effect probably damaging
Transcript: ENSMUST00000089688
AA Change: D81E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: D81E

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 probably damaging
Transcript: ENSMUST00000225641
AA Change: D81E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik C T 6: 83,138,654 (GRCm39) A193V probably benign Het
Aatf C T 11: 84,340,006 (GRCm39) R435Q probably damaging Het
Abca13 A G 11: 9,248,854 (GRCm39) H2867R probably benign Het
Abcd2 C T 15: 91,043,326 (GRCm39) A621T possibly damaging Het
Actl11 T A 9: 107,805,856 (GRCm39) S60T probably damaging Het
Adam28 T A 14: 68,874,846 (GRCm39) N277I probably damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Arhgap27 C T 11: 103,251,581 (GRCm39) R49Q probably damaging Het
Armc10 T C 5: 21,865,581 (GRCm39) S209P probably damaging Het
Atp6v0a1 T C 11: 100,934,783 (GRCm39) F617L probably benign Het
Bap1 T A 14: 30,973,580 (GRCm39) N2K probably damaging Het
Bltp1 C A 3: 37,102,158 (GRCm39) N1363K Het
Cass4 T A 2: 172,269,106 (GRCm39) L396* probably null Het
Ccdc40 A G 11: 119,155,270 (GRCm39) Q1170R probably damaging Het
Cdhr5 C T 7: 140,852,572 (GRCm39) R348H probably damaging Het
Cenpj A G 14: 56,790,109 (GRCm39) S647P probably benign Het
Chordc1 T A 9: 18,206,647 (GRCm39) probably null Het
Chordc1 T C 9: 18,212,308 (GRCm39) S41P probably damaging Het
Ckm T C 7: 19,148,978 (GRCm39) probably null Het
Clca3a1 A C 3: 144,711,727 (GRCm39) I756S probably damaging Het
Clcn1 T C 6: 42,268,323 (GRCm39) V165A possibly damaging Het
Clec4a4 T A 6: 122,968,704 (GRCm39) probably null Het
Cog7 T C 7: 121,576,537 (GRCm39) K130E probably damaging Het
Coq7 A G 7: 118,109,271 (GRCm39) I259T unknown Het
Cp T C 3: 20,029,130 (GRCm39) S536P probably damaging Het
Cyp2d10 T A 15: 82,288,447 (GRCm39) probably null Het
Dcst2 A G 3: 89,273,607 (GRCm39) I162V probably benign Het
Dennd4c A G 4: 86,721,228 (GRCm39) E630G probably damaging Het
Dpt A T 1: 164,624,484 (GRCm39) I62F probably benign Het
Ednrb T A 14: 104,080,444 (GRCm39) I157F probably damaging Het
Ext1 A T 15: 53,208,558 (GRCm39) W68R probably benign Het
Fgf4 A G 7: 144,416,523 (GRCm39) K152E probably benign Het
G530012D18Rik A T 1: 85,504,864 (GRCm39) T90S unknown Het
Galnt17 T C 5: 130,992,949 (GRCm39) T322A possibly damaging Het
Gcm1 A T 9: 77,966,925 (GRCm39) D48V possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm49358 G T 10: 86,661,071 (GRCm39) R353L probably damaging Het
Golga4 A G 9: 118,365,908 (GRCm39) E320G possibly damaging Het
Herc3 T C 6: 58,895,758 (GRCm39) I1002T probably damaging Het
Hip1r T A 5: 124,111,845 (GRCm39) V7E possibly damaging Het
Hipk1 G A 3: 103,684,926 (GRCm39) Q230* probably null Het
Igsf9b C T 9: 27,242,992 (GRCm39) P726L probably damaging Het
Itgb6 T C 2: 60,464,998 (GRCm39) I345V probably damaging Het
Lhx4 G T 1: 155,600,699 (GRCm39) Q29K probably benign Het
Manba A G 3: 135,273,396 (GRCm39) T777A probably benign Het
Mcm3ap A G 10: 76,337,145 (GRCm39) D1360G probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Naalad2 T C 9: 18,275,337 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or7a38 A T 10: 78,753,339 (GRCm39) I222L possibly damaging Het
Or8b35 T A 9: 37,904,253 (GRCm39) M150K possibly damaging Het
Pacs2 A G 12: 113,025,312 (GRCm39) D488G possibly damaging Het
Prr5 T G 15: 84,629,993 (GRCm39) L108R probably null Het
Psg23 A G 7: 18,341,064 (GRCm39) S397P probably benign Het
Rfpl4 C A 7: 5,113,659 (GRCm39) R174L probably damaging Het
Runx3 T A 4: 134,880,090 (GRCm39) I3N probably damaging Het
Scn5a A T 9: 119,372,451 (GRCm39) N214K possibly damaging Het
Slc27a1 T C 8: 72,037,092 (GRCm39) I412T probably damaging Het
Sptbn4 T G 7: 27,116,210 (GRCm39) T530P probably benign Het
Tex15 A T 8: 34,060,854 (GRCm39) R95* probably null Het
Tex15 T C 8: 34,063,023 (GRCm39) S818P probably damaging Het
Tmod1 A T 4: 46,093,951 (GRCm39) K221* probably null Het
Tpm3 G A 3: 89,998,361 (GRCm39) D272N probably benign Het
Trpm6 T C 19: 18,831,155 (GRCm39) V1340A probably benign Het
Ugt2b5 A T 5: 87,273,131 (GRCm39) C512S probably benign Het
Vmn2r82 A T 10: 79,215,268 (GRCm39) E417V probably benign Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Zfp217 A T 2: 169,956,072 (GRCm39) S975R probably benign Het
Zfr C T 15: 12,146,309 (GRCm39) Q287* probably null Het
Other mutations in Mmp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Mmp14 APN 14 54,673,247 (GRCm39) missense possibly damaging 0.60
IGL01937:Mmp14 APN 14 54,675,053 (GRCm39) splice site probably benign
IGL02565:Mmp14 APN 14 54,678,014 (GRCm39) missense probably benign 0.02
Buffo UTSW 14 54,675,115 (GRCm39) missense probably damaging 1.00
cartoon UTSW 14 54,677,456 (GRCm39) missense probably damaging 0.96
Cartoonish UTSW 14 54,674,232 (GRCm39) missense probably damaging 1.00
mumping UTSW 14 54,676,869 (GRCm39) missense probably damaging 1.00
IGL03134:Mmp14 UTSW 14 54,676,563 (GRCm39) missense probably damaging 1.00
R0053:Mmp14 UTSW 14 54,676,109 (GRCm39) splice site probably benign
R0053:Mmp14 UTSW 14 54,676,109 (GRCm39) splice site probably benign
R0538:Mmp14 UTSW 14 54,676,166 (GRCm39) missense possibly damaging 0.47
R0612:Mmp14 UTSW 14 54,677,891 (GRCm39) missense probably damaging 1.00
R2352:Mmp14 UTSW 14 54,678,002 (GRCm39) missense probably benign 0.30
R3700:Mmp14 UTSW 14 54,669,389 (GRCm39) unclassified probably benign
R4289:Mmp14 UTSW 14 54,673,665 (GRCm39) nonsense probably null
R4888:Mmp14 UTSW 14 54,673,662 (GRCm39) missense probably damaging 0.98
R5068:Mmp14 UTSW 14 54,676,570 (GRCm39) missense probably damaging 1.00
R5069:Mmp14 UTSW 14 54,676,570 (GRCm39) missense probably damaging 1.00
R5070:Mmp14 UTSW 14 54,676,570 (GRCm39) missense probably damaging 1.00
R5216:Mmp14 UTSW 14 54,675,120 (GRCm39) missense possibly damaging 0.82
R5607:Mmp14 UTSW 14 54,676,869 (GRCm39) missense probably damaging 1.00
R6053:Mmp14 UTSW 14 54,673,347 (GRCm39) missense probably benign 0.39
R6477:Mmp14 UTSW 14 54,675,115 (GRCm39) missense probably damaging 1.00
R7153:Mmp14 UTSW 14 54,673,708 (GRCm39) missense possibly damaging 0.93
R7555:Mmp14 UTSW 14 54,675,199 (GRCm39) missense possibly damaging 0.96
R7957:Mmp14 UTSW 14 54,673,707 (GRCm39) missense probably benign 0.01
R8263:Mmp14 UTSW 14 54,673,244 (GRCm39) missense probably damaging 1.00
R8409:Mmp14 UTSW 14 54,678,125 (GRCm39) missense probably damaging 1.00
R8785:Mmp14 UTSW 14 54,674,232 (GRCm39) missense probably damaging 1.00
R9021:Mmp14 UTSW 14 54,673,632 (GRCm39) missense probably benign 0.00
R9325:Mmp14 UTSW 14 54,676,248 (GRCm39) missense probably damaging 1.00
R9367:Mmp14 UTSW 14 54,677,960 (GRCm39) missense probably benign 0.17
R9425:Mmp14 UTSW 14 54,677,804 (GRCm39) missense probably damaging 0.99
R9544:Mmp14 UTSW 14 54,673,251 (GRCm39) missense possibly damaging 0.85
R9583:Mmp14 UTSW 14 54,678,069 (GRCm39) missense probably benign 0.24
RF003:Mmp14 UTSW 14 54,676,471 (GRCm39) nonsense probably null
X0064:Mmp14 UTSW 14 54,669,403 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCTGGCAGACATCGTGGAG -3'
(R):5'- TGTAGTGCTGTAGTTGACCCAG -3'

Sequencing Primer
(F):5'- CCTGGACCAAGCCGGAAG -3'
(R):5'- CAGGGTCTTGGCCTCTGGTC -3'
Posted On 2019-06-26