Incidental Mutation 'R6932:Mmp19'
ID 540110
Institutional Source Beutler Lab
Gene Symbol Mmp19
Ensembl Gene ENSMUSG00000025355
Gene Name matrix metallopeptidase 19
Synonyms
MMRRC Submission 045047-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R6932 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128626779-128636693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128627523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 54 (I54F)
Ref Sequence ENSEMBL: ENSMUSP00000026411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026411] [ENSMUST00000219404]
AlphaFold Q9JHI0
Predicted Effect probably benign
Transcript: ENSMUST00000026411
AA Change: I54F

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: I54F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:PG_binding_1 26 81 6.7e-10 PFAM
ZnMc 101 258 5.13e-43 SMART
low complexity region 262 271 N/A INTRINSIC
HX 293 335 8.97e-8 SMART
HX 337 378 1e-5 SMART
HX 380 427 1.87e-5 SMART
HX 429 471 3.7e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219404
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 98% (80/82)
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 develop a diet-induced obesity due to adipocyte hypertophy, exhibit decreased susceptibility to chemical carcinogen-induced skin tumors and early onset of tumoral angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for one knock-out allele develop diet-induced obesity due to adipocyte hypertrophy and display decreased incidence of chemically-induced fibrosarcomas while another knock-out mutant shows a reduced inflammatory reaction to contact hypersensitivity and abnormal T cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,331 (GRCm39) F198I probably damaging Het
Acy1 A G 9: 106,314,826 (GRCm39) probably null Het
Adk A G 14: 21,126,376 (GRCm39) M1V probably null Het
Ahi1 A G 10: 20,839,590 (GRCm39) D167G probably benign Het
Ankrd16 T C 2: 11,791,054 (GRCm39) V290A possibly damaging Het
Arhgef5 T A 6: 43,251,351 (GRCm39) S701T possibly damaging Het
Atp13a5 C A 16: 29,100,769 (GRCm39) M673I probably damaging Het
BC005624 T C 2: 30,868,940 (GRCm39) D78G possibly damaging Het
Bcat2 C T 7: 45,238,745 (GRCm39) H347Y probably damaging Het
Bpifb4 A G 2: 153,784,547 (GRCm39) Y85C possibly damaging Het
Cdc42 T A 4: 137,049,932 (GRCm39) probably null Het
Cep170 G A 1: 176,589,003 (GRCm39) L541F possibly damaging Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Cgrrf1 T A 14: 47,091,179 (GRCm39) N234K probably benign Het
Ctrc C T 4: 141,568,879 (GRCm39) C108Y probably damaging Het
Cyp2u1 C T 3: 131,091,945 (GRCm39) V192M possibly damaging Het
Dhx38 A T 8: 110,279,307 (GRCm39) L1013Q probably damaging Het
Dnah1 T A 14: 31,009,733 (GRCm39) N1945I probably damaging Het
Dnah10 C G 5: 124,898,514 (GRCm39) N3765K possibly damaging Het
Dnah17 C A 11: 117,950,905 (GRCm39) R2906L possibly damaging Het
Dnajc10 C T 2: 80,161,680 (GRCm39) T306I probably benign Het
Efemp2 T A 19: 5,530,273 (GRCm39) C287S probably damaging Het
Efna1 T C 3: 89,180,091 (GRCm39) R143G probably benign Het
Emilin1 A C 5: 31,074,421 (GRCm39) N221H probably damaging Het
Epg5 A G 18: 77,991,824 (GRCm39) T174A probably benign Het
Fam184b T A 5: 45,690,243 (GRCm39) probably null Het
Fchsd2 T A 7: 100,926,621 (GRCm39) C570* probably null Het
Gm4787 A T 12: 81,425,974 (GRCm39) D61E probably benign Het
Gm7356 C T 17: 14,221,925 (GRCm39) G35R probably damaging Het
Gm8220 A G 14: 44,525,645 (GRCm39) T20A probably damaging Het
Hivep2 C T 10: 14,004,245 (GRCm39) T281M probably damaging Het
Ighv2-9-1 A G 12: 113,733,692 (GRCm39) V43A probably damaging Het
Klhl33 A T 14: 51,129,373 (GRCm39) C619S probably benign Het
Kmt2a A T 9: 44,740,558 (GRCm39) probably benign Het
Lax1 A G 1: 133,607,896 (GRCm39) C282R probably benign Het
Lrrd1 A G 5: 3,901,395 (GRCm39) K567E probably benign Het
Luzp1 C T 4: 136,268,124 (GRCm39) R116* probably null Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Macrod2 A T 2: 140,261,833 (GRCm39) N38I probably damaging Het
Map3k14 A T 11: 103,132,958 (GRCm39) I80N probably damaging Het
Mcm9 A G 10: 53,496,299 (GRCm39) S368P probably benign Het
Mfge8 T C 7: 78,793,049 (GRCm39) D139G probably benign Het
Myo15a G T 11: 60,390,320 (GRCm39) W2114L probably damaging Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Myoc A G 1: 162,466,915 (GRCm39) D28G probably damaging Het
Myrf G T 19: 10,196,924 (GRCm39) N487K probably damaging Het
Omd T A 13: 49,743,710 (GRCm39) F253L probably damaging Het
Or2ag19 G T 7: 106,444,009 (GRCm39) G64* probably null Het
Or5t5 C G 2: 86,616,499 (GRCm39) L142V probably damaging Het
Or6n1 G A 1: 173,917,316 (GRCm39) A237T probably damaging Het
Papss1 T G 3: 131,305,732 (GRCm39) I238S probably damaging Het
Pkhd1 A T 1: 20,632,675 (GRCm39) F580Y probably benign Het
Polk T A 13: 96,653,189 (GRCm39) K70N probably damaging Het
Ppig T A 2: 69,562,755 (GRCm39) D31E probably benign Het
Ppp6r1 G T 7: 4,636,291 (GRCm39) S766R possibly damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Reln T C 5: 22,190,855 (GRCm39) I1511V probably benign Het
Rnh1 T C 7: 140,743,096 (GRCm39) N268S probably damaging Het
Rpia A G 6: 70,750,424 (GRCm39) V236A probably benign Het
Rpl10a G T 17: 28,548,424 (GRCm39) V80L probably benign Het
Sap130 T G 18: 31,799,407 (GRCm39) S295A possibly damaging Het
Sgms1 C T 19: 32,120,193 (GRCm39) V238I probably benign Het
Sh3tc1 A G 5: 35,864,778 (GRCm39) S470P probably benign Het
Slc25a32 A G 15: 38,960,984 (GRCm39) V233A possibly damaging Het
Slc2a2 T C 3: 28,771,668 (GRCm39) S158P probably benign Het
Slc6a2 A G 8: 93,722,653 (GRCm39) Y550C probably benign Het
Slc7a9 C A 7: 35,151,936 (GRCm39) T77K probably benign Het
Snd1 A T 6: 28,626,100 (GRCm39) D385V probably benign Het
Ssh3 A T 19: 4,314,448 (GRCm39) F369I probably damaging Het
Syk A G 13: 52,766,495 (GRCm39) probably null Het
Tbc1d16 A G 11: 119,099,742 (GRCm39) S211P probably damaging Het
Ttc3 A G 16: 94,244,312 (GRCm39) T1439A probably benign Het
Usp18 A G 6: 121,229,473 (GRCm39) M31V probably benign Het
Vav1 G T 17: 57,609,330 (GRCm39) E415D possibly damaging Het
Vps13a A T 19: 16,655,439 (GRCm39) V1863D probably benign Het
Xdh T A 17: 74,229,557 (GRCm39) I299F probably damaging Het
Zc3h14 A G 12: 98,737,336 (GRCm39) probably benign Het
Zfp345 G A 2: 150,315,331 (GRCm39) H69Y probably damaging Het
Zfp652 G T 11: 95,654,667 (GRCm39) V357L probably benign Het
Zfp712 A T 13: 67,188,891 (GRCm39) Y545* probably null Het
Zgrf1 T C 3: 127,353,281 (GRCm39) probably null Het
Other mutations in Mmp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Mmp19 APN 10 128,634,011 (GRCm39) missense probably damaging 0.99
IGL01654:Mmp19 APN 10 128,634,389 (GRCm39) missense probably damaging 1.00
IGL02009:Mmp19 APN 10 128,634,356 (GRCm39) missense probably benign
IGL02110:Mmp19 APN 10 128,630,727 (GRCm39) missense probably damaging 0.97
H8562:Mmp19 UTSW 10 128,631,470 (GRCm39) missense probably benign
I0000:Mmp19 UTSW 10 128,634,329 (GRCm39) missense probably benign 0.38
R0183:Mmp19 UTSW 10 128,634,872 (GRCm39) missense possibly damaging 0.49
R0388:Mmp19 UTSW 10 128,634,752 (GRCm39) missense probably benign 0.01
R1481:Mmp19 UTSW 10 128,634,047 (GRCm39) missense possibly damaging 0.82
R2073:Mmp19 UTSW 10 128,630,848 (GRCm39) missense probably damaging 1.00
R2443:Mmp19 UTSW 10 128,634,725 (GRCm39) missense possibly damaging 0.46
R2495:Mmp19 UTSW 10 128,626,819 (GRCm39) utr 5 prime probably benign
R4477:Mmp19 UTSW 10 128,631,506 (GRCm39) missense probably benign 0.01
R5293:Mmp19 UTSW 10 128,626,970 (GRCm39) missense probably damaging 1.00
R6567:Mmp19 UTSW 10 128,632,275 (GRCm39) missense probably benign
R7338:Mmp19 UTSW 10 128,634,952 (GRCm39) missense probably benign 0.00
R7611:Mmp19 UTSW 10 128,634,857 (GRCm39) missense probably benign
R8515:Mmp19 UTSW 10 128,631,471 (GRCm39) missense probably benign 0.01
R8704:Mmp19 UTSW 10 128,634,703 (GRCm39) missense probably benign 0.06
R9417:Mmp19 UTSW 10 128,630,523 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- GCCCCTTACTCAGGCATACA -3'
(R):5'- CATGACCTGTGTGTTCCTCA -3'

Sequencing Primer
(F):5'- CCTAGAACTTGCTATGCAGTCTAGG -3'
(R):5'- GACCTGTGTGTTCCTCATCCCTAC -3'
Posted On 2018-11-06