Incidental Mutation 'R7153:Mmp14'
ID 554276
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 045255-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R7153 (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 C at 54673708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 124 (I124T)
Ref Sequence ENSEMBL: ENSMUSP00000087119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089688] [ENSMUST00000196155] [ENSMUST00000197874] [ENSMUST00000225641]
AlphaFold P53690
Predicted Effect possibly damaging
Transcript: ENSMUST00000089688
AA Change: I124T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: I124T

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: I124T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,969,906 (GRCm39) T741A possibly damaging Het
Aox4 T C 1: 58,289,378 (GRCm39) M767T probably damaging Het
Arhgap39 C A 15: 76,649,691 (GRCm39) S27I probably benign Het
AU018091 T A 7: 3,209,353 (GRCm39) M296L probably benign Het
Axin1 A G 17: 26,406,942 (GRCm39) T512A probably benign Het
B4galnt3 A T 6: 120,191,929 (GRCm39) D602E probably benign Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bsnd A T 4: 106,349,230 (GRCm39) D3E probably benign Het
Btbd18 C T 2: 84,496,772 (GRCm39) R137* probably null Het
C2cd5 A G 6: 142,965,135 (GRCm39) S871P probably benign Het
Cobl G T 11: 12,204,128 (GRCm39) P858Q probably damaging Het
Col6a1 C T 10: 76,546,175 (GRCm39) probably null Het
Crb2 A T 2: 37,677,420 (GRCm39) H304L probably benign Het
Crybg1 T A 10: 43,840,662 (GRCm39) Y1812F possibly damaging Het
Ddx60 A T 8: 62,441,142 (GRCm39) K1070N possibly damaging Het
Defb22 T C 2: 152,327,840 (GRCm39) K115R unknown Het
Dhx8 C T 11: 101,631,001 (GRCm39) probably null Het
Dnah5 T A 15: 28,365,668 (GRCm39) probably null Het
Dnah7b T A 1: 46,165,964 (GRCm39) F543Y probably benign Het
Ehhadh A G 16: 21,585,071 (GRCm39) F270S probably damaging Het
Esyt2 A G 12: 116,310,128 (GRCm39) M397V probably benign Het
Fanca A T 8: 124,043,164 (GRCm39) L74H probably damaging Het
Fbxl17 C A 17: 63,367,346 (GRCm39) V676F probably benign Het
Fndc1 A G 17: 8,020,477 (GRCm39) V102A probably damaging Het
Gpalpp1 T C 14: 76,332,451 (GRCm39) Y273C probably damaging Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Grik2 T C 10: 49,411,463 (GRCm39) H225R probably benign Het
Helz2 A T 2: 180,873,078 (GRCm39) S2411T probably benign Het
Hnmt C T 2: 23,904,353 (GRCm39) A103T probably damaging Het
Ighv15-2 G T 12: 114,528,210 (GRCm39) Y114* probably null Het
Irak2 A G 6: 113,655,670 (GRCm39) H357R probably benign Het
Kcp T C 6: 29,499,014 (GRCm39) E320G probably damaging Het
Kpna4 A G 3: 68,997,131 (GRCm39) L352S probably damaging Het
Krt36 G A 11: 99,995,972 (GRCm39) Q151* probably null Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lca5l T A 16: 95,975,009 (GRCm39) N305I probably damaging Het
Lefty1 T A 1: 180,765,332 (GRCm39) L300Q probably benign Het
Mertk A G 2: 128,578,569 (GRCm39) Y185C probably damaging Het
Nlrc4 T C 17: 74,754,098 (GRCm39) E95G possibly damaging Het
Npc1 A G 18: 12,346,348 (GRCm39) F283L possibly damaging Het
Or4k38 A T 2: 111,166,246 (GRCm39) M59K probably damaging Het
Or4p19 A C 2: 88,242,462 (GRCm39) L180W probably damaging Het
Pcdha11 T C 18: 37,144,278 (GRCm39) V123A probably damaging Het
Pcdhga2 T C 18: 37,802,261 (GRCm39) V35A probably damaging Het
Pgd G T 4: 149,246,135 (GRCm39) T94K probably benign Het
Pik3c2a T C 7: 115,941,487 (GRCm39) N1593S probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb3 A G 19: 6,935,452 (GRCm39) probably null Het
Prkd3 C T 17: 79,273,784 (GRCm39) D491N probably benign Het
Ptprf T C 4: 118,088,740 (GRCm39) T688A probably damaging Het
Pycr2 T A 1: 180,734,247 (GRCm39) L210M probably damaging Het
Rpl36 T C 17: 56,921,137 (GRCm39) I81T probably benign Het
Rraga C T 4: 86,494,253 (GRCm39) A33V probably damaging Het
Slc29a1 G A 17: 45,896,688 (GRCm39) A429V probably damaging Het
Stab1 T G 14: 30,882,541 (GRCm39) E432A probably benign Het
Synj1 C T 16: 90,744,978 (GRCm39) G1189R probably benign Het
Synpo2 A G 3: 122,906,053 (GRCm39) *1088Q probably null Het
Tbc1d21 T C 9: 58,270,376 (GRCm39) D133G probably damaging Het
Tenm2 A G 11: 35,915,009 (GRCm39) V2176A probably damaging Het
Tff1 A G 17: 31,381,772 (GRCm39) I35T probably benign Het
Thnsl1 T C 2: 21,217,764 (GRCm39) V506A possibly damaging Het
Timm10b A G 7: 105,290,087 (GRCm39) Q50R unknown Het
Tjp2 A T 19: 24,079,345 (GRCm39) N843K probably benign Het
Tle1 A T 4: 72,057,298 (GRCm39) F101I probably benign Het
Tmem225 T C 9: 40,059,664 (GRCm39) F15L probably benign Het
Trav12-3 T C 14: 53,859,618 (GRCm39) L88P probably benign Het
Ttc7b A T 12: 100,321,293 (GRCm39) W613R probably damaging Het
Ttn T A 2: 76,608,848 (GRCm39) M17723L probably benign Het
Ttn T C 2: 76,775,660 (GRCm39) D1840G unknown Het
Tubgcp2 T C 7: 139,580,949 (GRCm39) H668R probably benign Het
Ush2a C A 1: 188,460,681 (GRCm39) N2647K possibly damaging Het
Vmn1r14 C T 6: 57,210,851 (GRCm39) S143F probably benign Het
Vmn2r70 A G 7: 85,214,262 (GRCm39) S297P probably damaging Het
Ywhab T C 2: 163,855,980 (GRCm39) F119L probably damaging Het
Zmym2 T A 14: 57,187,659 (GRCm39) D1108E probably benign 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
R7212:Mmp14 UTSW 14 54,673,336 (GRCm39) missense probably damaging 1.00
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'- TGGGTCAACTACAGCACTACAC -3'
(R):5'- AGGCTTAGGGGATCTTCAGG -3'

Sequencing Primer
(F):5'- ACACTCTGTCCCTTTGAAGATGG -3'
(R):5'- CGAGAGTGTATGCTCTTCAAAATGGC -3'
Posted On 2019-05-15