Incidental Mutation 'R0612:Mmp14'
ID 54841
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 038801-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R0612 (G1)
Quality Score 209
Status Validated
Chromosome 14
Chromosomal Location 54669055-54679913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54677891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 504 (D504G)
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: D504G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: D504G

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 probably benign
Transcript: ENSMUST00000225641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226710
Meta Mutation Damage Score 0.3230 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.5%
Validation Efficiency 98% (92/94)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,936,478 (GRCm39) L181P probably damaging Het
Aldh3a1 A T 11: 61,105,445 (GRCm39) I184F probably damaging Het
Arl6ip4 A G 5: 124,254,596 (GRCm39) S30G probably benign Het
Atp9b T C 18: 80,797,171 (GRCm39) E891G possibly damaging Het
Brsk1 T C 7: 4,710,425 (GRCm39) L478P possibly damaging Het
Btaf1 G A 19: 36,946,537 (GRCm39) V448I probably damaging Het
Cab39 T C 1: 85,746,236 (GRCm39) probably null Het
Cacna2d4 G T 6: 119,258,679 (GRCm39) probably benign Het
Capzb C T 4: 139,018,340 (GRCm39) S253L probably benign Het
Ccdc174 A G 6: 91,867,873 (GRCm39) probably benign Het
Ccdc180 C T 4: 45,927,969 (GRCm39) A1168V probably damaging Het
Cdh19 T C 1: 110,820,900 (GRCm39) probably benign Het
Cdh8 T C 8: 100,127,546 (GRCm39) T22A probably benign Het
Cdk10 T C 8: 123,957,419 (GRCm39) V181A probably benign Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cftr A C 6: 18,198,125 (GRCm39) T20P probably benign Het
Cip2a C T 16: 48,819,402 (GRCm39) A112V probably benign Het
Clstn3 T C 6: 124,426,459 (GRCm39) T576A probably damaging Het
Col1a2 G A 6: 4,516,003 (GRCm39) V165I unknown Het
Copg2 A T 6: 30,838,404 (GRCm39) probably null Het
Cps1 A G 1: 67,178,929 (GRCm39) H47R probably benign Het
Cytip T C 2: 58,024,202 (GRCm39) D206G possibly damaging Het
Dcaf8l G A X: 88,448,972 (GRCm39) R386* probably null Het
Dnmt1 C T 9: 20,829,489 (GRCm39) E824K probably damaging Het
Dock7 A C 4: 98,877,470 (GRCm39) V442G probably benign Het
Dsc1 T G 18: 20,247,573 (GRCm39) K14T probably damaging Het
Dync1h1 C T 12: 110,582,930 (GRCm39) P371L probably damaging Het
Enah A G 1: 181,734,013 (GRCm39) probably benign Het
Entrep2 C T 7: 64,411,549 (GRCm39) V395M probably benign Het
Fastkd1 T C 2: 69,542,727 (GRCm39) T27A probably benign Het
Fcho1 A G 8: 72,168,168 (GRCm39) L248P probably damaging Het
Fezf1 A T 6: 23,247,028 (GRCm39) V268D probably damaging Het
Fgd2 T A 17: 29,597,321 (GRCm39) V547E probably benign Het
Flnb T A 14: 7,887,682 (GRCm38) probably benign Het
Gabrg3 A G 7: 56,379,454 (GRCm39) M316T probably damaging Het
Gigyf2 T C 1: 87,376,802 (GRCm39) F1265L probably damaging Het
Git2 A G 5: 114,890,342 (GRCm39) S271P probably damaging Het
Gorab T C 1: 163,224,738 (GRCm39) D21G possibly damaging Het
Gpr179 T A 11: 97,229,264 (GRCm39) T964S possibly damaging Het
Hdac5 A G 11: 102,087,078 (GRCm39) V1042A possibly damaging Het
Hoxa2 T A 6: 52,140,540 (GRCm39) T149S probably damaging Het
Igsf8 G T 1: 172,146,974 (GRCm39) *108L probably null Het
Il1rap C T 16: 26,519,855 (GRCm39) T307M possibly damaging Het
Itih2 T C 2: 10,122,205 (GRCm39) D232G probably benign Het
Jak3 A G 8: 72,136,021 (GRCm39) Y607C probably damaging Het
Kcnh1 C T 1: 191,959,361 (GRCm39) P305L probably damaging Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Lrrn2 T C 1: 132,865,466 (GRCm39) L177P probably damaging Het
Lypd8l A G 11: 58,502,799 (GRCm39) probably null Het
Map4k3 C A 17: 80,909,622 (GRCm39) K712N probably damaging Het
Med11 A G 11: 70,342,910 (GRCm39) T36A probably benign Het
Mob1a A G 6: 83,311,140 (GRCm39) T120A probably benign Het
Mr1 T A 1: 155,013,436 (GRCm39) D47V probably damaging Het
Nacad G T 11: 6,551,382 (GRCm39) A603E possibly damaging Het
Nwd1 T A 8: 73,394,308 (GRCm39) W524R probably damaging Het
Or11g26 A T 14: 50,752,939 (GRCm39) T93S probably benign Het
Or13a19 T A 7: 139,903,101 (GRCm39) M163K possibly damaging Het
Or4e1 T C 14: 52,701,008 (GRCm39) T153A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pde6c T A 19: 38,121,694 (GRCm39) C101S probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdlim4 G A 11: 53,959,713 (GRCm39) R16C probably damaging Het
Pfkp A G 13: 6,655,670 (GRCm39) probably null Het
Plcg2 T A 8: 118,300,104 (GRCm39) S225T probably benign Het
Pramel1 T C 4: 143,124,101 (GRCm39) S259P probably damaging Het
Pramel27 G T 4: 143,578,658 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,301,227 (GRCm39) N92D possibly damaging Het
Ric8b C A 10: 84,837,745 (GRCm39) N517K probably damaging Het
Rnf34 G A 5: 123,002,237 (GRCm39) R65H probably damaging Het
Rraga C T 4: 86,494,564 (GRCm39) R137C probably damaging Het
Scube2 C T 7: 109,403,971 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,352,179 (GRCm39) M339T probably damaging Het
Spata31d1d T C 13: 59,875,787 (GRCm39) I583V probably benign Het
Suox T C 10: 128,506,525 (GRCm39) E501G probably benign Het
Susd1 A G 4: 59,390,561 (GRCm39) probably benign Het
Tac1 T C 6: 7,555,653 (GRCm39) S14P probably damaging Het
Tbc1d8 T C 1: 39,411,596 (GRCm39) E1080G possibly damaging Het
Tll1 A C 8: 64,524,344 (GRCm39) S447R possibly damaging Het
Tmem132e G A 11: 82,334,198 (GRCm39) V662M probably damaging Het
Upf2 G T 2: 6,038,909 (GRCm39) probably benign Het
Uspl1 A G 5: 149,151,767 (GRCm39) E989G probably damaging Het
Vmn1r58 T C 7: 5,413,618 (GRCm39) H204R probably damaging Het
Vmn2r25 A T 6: 123,816,481 (GRCm39) C367S probably damaging Het
Vps13b A T 15: 35,623,803 (GRCm39) Q1240L probably benign Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Yeats2 T G 16: 20,005,175 (GRCm39) V385G 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
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
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'- GGGTCATTCATGGGCAGTGATGAAG -3'
(R):5'- AGTACCAGGAGCAGCAGTAGTACC -3'

Sequencing Primer
(F):5'- AAGCTTAGCTGGCCTCAC -3'
(R):5'- CAGCAGTAGTACCGGCAG -3'
Posted On 2013-07-11