Incidental Mutation 'R7338:Mmp19'
ID 569655
Institutional Source Beutler Lab
Gene Symbol Mmp19
Ensembl Gene ENSMUSG00000025355
Gene Name matrix metallopeptidase 19
Synonyms
MMRRC Submission 045428-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R7338 (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 128634952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 523 (T523S)
Ref Sequence ENSEMBL: ENSMUSP00000026411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026411] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000218001] [ENSMUST00000219404]
AlphaFold Q9JHI0
Predicted Effect probably benign
Transcript: ENSMUST00000026411
AA Change: T523S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
AA Change: T523S

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: ENSMUST00000051011
SMART Domains Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090

DomainStartEndE-ValueType
Pfam:DUF4203 43 240 2.4e-47 PFAM
low complexity region 257 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139227
SMART Domains Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090

DomainStartEndE-ValueType
Pfam:DUF4203 42 96 4.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218001
Predicted Effect probably benign
Transcript: ENSMUST00000219404
AA Change: T451S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Arhgap28 T C 17: 68,203,106 (GRCm39) R166G probably damaging Het
Bcan T A 3: 87,901,550 (GRCm39) E384V probably damaging Het
Bcl9l A G 9: 44,420,005 (GRCm39) N1137S probably benign Het
Caprin1 A G 2: 103,609,768 (GRCm39) L170S probably benign Het
Card6 C T 15: 5,129,354 (GRCm39) E681K probably benign Het
Catsperb G A 12: 101,447,243 (GRCm39) V248I probably benign Het
Ccnj T A 19: 40,825,477 (GRCm39) H62Q probably damaging Het
Cd180 A C 13: 102,842,936 (GRCm39) I661L probably benign Het
Cdk11b A G 4: 155,732,008 (GRCm39) R473G unknown Het
Cep126 T C 9: 8,099,799 (GRCm39) T912A possibly damaging Het
Chek2 T A 5: 111,021,380 (GRCm39) V530E probably benign Het
Chga G T 12: 102,529,100 (GRCm39) S359I probably damaging Het
Cnrip1 T C 11: 17,004,657 (GRCm39) V69A probably damaging Het
Cyp2a5 A T 7: 26,542,372 (GRCm39) Q458L probably damaging Het
Cyp2j11 T A 4: 96,195,524 (GRCm39) T391S possibly damaging Het
Dhx16 T C 17: 36,199,036 (GRCm39) L794P probably damaging Het
Dscaml1 A G 9: 45,585,802 (GRCm39) T580A probably benign Het
Elmo1 A T 13: 20,464,982 (GRCm39) I184L probably benign Het
Gabra1 C T 11: 42,073,121 (GRCm39) G51S unknown Het
Gabrr3 C A 16: 59,268,439 (GRCm39) L351I possibly damaging Het
Gbp7 A T 3: 142,243,786 (GRCm39) N111I probably damaging Het
Gjd2 C T 2: 113,841,583 (GRCm39) R298H probably damaging Het
Gm5930 T C 14: 44,573,914 (GRCm39) Y141C probably damaging Het
Grin3a G T 4: 49,771,238 (GRCm39) N511K probably benign Het
Hdac7 T C 15: 97,707,903 (GRCm39) D122G probably benign Het
Ifi204 G A 1: 173,587,703 (GRCm39) T152I possibly damaging Het
Lrrc9 C T 12: 72,510,305 (GRCm39) probably null Het
Med21 T A 6: 146,544,082 (GRCm39) probably benign Het
Nav3 G A 10: 109,605,073 (GRCm39) T1000I probably benign Het
Nherf2 T A 17: 24,869,182 (GRCm39) probably benign Het
Nin T C 12: 70,090,838 (GRCm39) D859G Het
Nip7 T G 8: 107,783,916 (GRCm39) L52R possibly damaging Het
Or10d1c A G 9: 38,893,816 (GRCm39) Y175H probably damaging Het
Or5al5 A T 2: 85,961,726 (GRCm39) F94I probably damaging Het
Or6b13 A T 7: 139,782,446 (GRCm39) V79E probably benign Het
Otop1 T A 5: 38,457,547 (GRCm39) Y435* probably null Het
Pak4 A G 7: 28,264,381 (GRCm39) S174P probably benign Het
Pcsk7 G A 9: 45,837,287 (GRCm39) R537Q probably benign Het
Podxl G A 6: 31,505,941 (GRCm39) S34F unknown Het
Prr36 G A 8: 4,266,212 (GRCm39) R113C probably damaging Het
Ptk7 T C 17: 46,890,525 (GRCm39) I436V probably benign Het
Slc13a5 C T 11: 72,157,310 (GRCm39) V28I probably benign Het
Slco6d1 A T 1: 98,349,097 (GRCm39) D56V probably benign Het
Spg11 G A 2: 121,885,858 (GRCm39) R2317W probably damaging Het
Stom T A 2: 35,213,760 (GRCm39) probably null Het
Svs5 T C 2: 164,174,728 (GRCm39) L8P possibly damaging Het
Tmem141 C A 2: 25,511,626 (GRCm39) V39F probably damaging Het
Tmprss6 A G 15: 78,344,019 (GRCm39) L181P probably damaging Het
Tnni3 A G 7: 4,524,379 (GRCm39) S40P probably benign Het
Tubgcp4 A G 2: 121,024,465 (GRCm39) I548V probably benign Het
Twf2 A G 9: 106,081,138 (GRCm39) probably benign Het
Wnt5b C A 6: 119,425,092 (GRCm39) probably null Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Yipf4 T G 17: 74,796,771 (GRCm39) S21A probably benign Het
Zscan20 A G 4: 128,481,943 (GRCm39) M573T probably benign 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
R6932:Mmp19 UTSW 10 128,627,523 (GRCm39) missense probably benign 0.16
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'- TTAACCAGCAACTTCGAGTGG -3'
(R):5'- TTTCCCTCCACCAGAGACTAG -3'

Sequencing Primer
(F):5'- CTTCGAGTGGCAAAGGGCTATC -3'
(R):5'- GACTAGATGTCACACTTGAAACAG -3'
Posted On 2019-09-13