Incidental Mutation 'R0491:Mmp11'
ID 42479
Institutional Source Beutler Lab
Gene Symbol Mmp11
Ensembl Gene ENSMUSG00000000901
Gene Name matrix metallopeptidase 11
Synonyms stromelysin 3, ST3, Stmy3
MMRRC Submission 038689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0491 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75759056-75768336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75762592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 287 (A287V)
Ref Sequence ENSEMBL: ENSMUSP00000112940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000924] [ENSMUST00000120281] [ENSMUST00000132869] [ENSMUST00000219728]
AlphaFold Q02853
Predicted Effect probably benign
Transcript: ENSMUST00000000924
AA Change: A287V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: A287V

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
ZnMc 105 263 2.58e-57 SMART
HX 302 345 1.16e-10 SMART
HX 347 388 1.27e-7 SMART
HX 391 438 7.63e-11 SMART
HX 440 484 6.91e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120281
AA Change: A287V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: A287V

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
ZnMc 105 263 2.58e-57 SMART
HX 302 345 1.16e-10 SMART
HX 347 388 1.27e-7 SMART
HX 391 438 7.63e-11 SMART
HX 440 484 6.91e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133897
Predicted Effect probably benign
Transcript: ENSMUST00000152222
SMART Domains Protein: ENSMUSP00000116279
Gene: ENSMUSG00000000901

DomainStartEndE-ValueType
Blast:HX 2 26 1e-8 BLAST
HX 29 76 7.63e-11 SMART
HX 78 117 1.91e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219728
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: This gene encodes a member of the matrix metalloproteinase family of endopeptidases that are involved in remodeling extracellular matrix during, for example, embryonic development and tumor progression. The encoded protein undergoes post-translational proteolytic processing by furin endopeptidase to form an active enzyme. Subcutaneous introduction of cells expressing the encoded protein into nude mice results in increased tumor incidence. Mice lacking the encoded protein exhibit a decreased incidence of chemically-induced tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit a decreased incidence of DMBA-induced carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,248,235 (GRCm39) F2661L probably benign Het
Acadsb A G 7: 131,031,836 (GRCm39) D224G probably benign Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts2 A G 11: 50,667,457 (GRCm39) D465G probably damaging Het
Akap9 A T 5: 4,022,851 (GRCm39) probably benign Het
Alms1 A G 6: 85,679,582 (GRCm39) T3240A probably damaging Het
Ap3d1 A G 10: 80,555,075 (GRCm39) W417R probably damaging Het
Arfgef1 C A 1: 10,250,212 (GRCm39) probably benign Het
Atf6 A G 1: 170,614,913 (GRCm39) probably null Het
Cacna1s T A 1: 136,016,746 (GRCm39) probably benign Het
Clcn1 T C 6: 42,287,515 (GRCm39) F740L probably benign Het
Clec12a T A 6: 129,341,016 (GRCm39) D265E probably benign Het
Clic3 T A 2: 25,347,797 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,909,859 (GRCm39) T749P probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Cplane1 T A 15: 8,211,727 (GRCm39) S356T probably damaging Het
Crxos T A 7: 15,632,460 (GRCm39) S89T probably benign Het
Cxcr1 G T 1: 74,231,468 (GRCm39) P185T possibly damaging Het
Cyp20a1 T A 1: 60,410,486 (GRCm39) N262K possibly damaging Het
Dennd2b T A 7: 109,156,411 (GRCm39) Q113L probably benign Het
Dpy19l2 T C 9: 24,607,324 (GRCm39) R46G probably benign Het
Dpysl2 A T 14: 67,045,411 (GRCm39) L454Q probably damaging Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Eppin T A 2: 164,431,332 (GRCm39) E98V possibly damaging Het
Fancm A T 12: 65,152,835 (GRCm39) H1097L probably benign Het
Fkbp4 A G 6: 128,412,705 (GRCm39) I75T probably damaging Het
Fmn2 A G 1: 174,409,525 (GRCm39) H586R unknown Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Haus6 A C 4: 86,521,083 (GRCm39) V185G possibly damaging Het
Herc2 T A 7: 55,772,114 (GRCm39) C1098S possibly damaging Het
Hic1 C A 11: 75,057,136 (GRCm39) L584F possibly damaging Het
Itgb1bp1 C A 12: 21,326,896 (GRCm39) probably benign Het
Kbtbd2 G A 6: 56,757,374 (GRCm39) R121* probably null Het
Lgr4 C T 2: 109,837,626 (GRCm39) probably benign Het
Lrrc55 T C 2: 85,022,264 (GRCm39) E309G probably damaging Het
Mertk T C 2: 128,635,027 (GRCm39) probably null Het
Micu3 A G 8: 40,819,294 (GRCm39) probably benign Het
Mpzl2 A G 9: 44,954,039 (GRCm39) Y47C probably damaging Het
Muc5b A C 7: 141,415,752 (GRCm39) R2899S probably benign Het
Myo1b A G 1: 51,794,857 (GRCm39) Y1078H probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Ncapd3 T G 9: 26,969,179 (GRCm39) V611G probably damaging Het
Ntpcr C T 8: 126,464,093 (GRCm39) R73* probably null Het
Or4c120 A T 2: 89,000,704 (GRCm39) V284E probably benign Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Osbp2 A G 11: 3,664,709 (GRCm39) F88S probably damaging Het
Pkn3 A T 2: 29,979,889 (GRCm39) T711S probably damaging Het
Plekhm1 T C 11: 103,285,602 (GRCm39) K278E probably benign Het
Ppp1r36 A G 12: 76,486,065 (GRCm39) T408A probably benign Het
Prss41 T C 17: 24,061,477 (GRCm39) T105A possibly damaging Het
Psme1 G T 14: 55,817,378 (GRCm39) probably benign Het
Ptprq A T 10: 107,444,036 (GRCm39) Y1523N probably damaging Het
Ric8b A G 10: 84,828,086 (GRCm39) D470G probably damaging Het
Scarb1 A G 5: 125,375,795 (GRCm39) probably benign Het
Slc25a54 G A 3: 109,010,112 (GRCm39) A204T probably damaging Het
Spink10 T C 18: 62,793,036 (GRCm39) C67R probably damaging Het
Tmtc1 A T 6: 148,314,138 (GRCm39) probably null Het
Tprkb A G 6: 85,901,446 (GRCm39) D28G probably benign Het
Ttll13 A G 7: 79,910,098 (GRCm39) H747R probably benign Het
Usp24 A G 4: 106,259,302 (GRCm39) S1608G probably benign Het
Utp20 A T 10: 88,596,774 (GRCm39) F2115L probably damaging Het
Vmn1r200 A T 13: 22,579,361 (GRCm39) I46L probably benign Het
Zdhhc8 A T 16: 18,046,254 (GRCm39) M103K probably damaging Het
Zfp595 C T 13: 67,465,369 (GRCm39) G298E probably damaging Het
Zfp738 T G 13: 67,818,140 (GRCm39) H617P possibly damaging Het
Zfp9 A T 6: 118,442,163 (GRCm39) H166Q probably damaging Het
Zp3r C A 1: 130,546,071 (GRCm39) D80Y probably damaging Het
Other mutations in Mmp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Mmp11 APN 10 75,762,655 (GRCm39) missense probably benign 0.00
IGL01690:Mmp11 APN 10 75,762,730 (GRCm39) missense probably damaging 1.00
IGL01804:Mmp11 APN 10 75,764,304 (GRCm39) missense probably benign
R0285:Mmp11 UTSW 10 75,761,502 (GRCm39) missense probably damaging 1.00
R0541:Mmp11 UTSW 10 75,762,767 (GRCm39) missense probably damaging 1.00
R1857:Mmp11 UTSW 10 75,764,191 (GRCm39) missense probably benign 0.01
R2400:Mmp11 UTSW 10 75,761,344 (GRCm39) missense probably benign 0.18
R2442:Mmp11 UTSW 10 75,763,079 (GRCm39) missense probably benign 0.09
R3157:Mmp11 UTSW 10 75,762,948 (GRCm39) unclassified probably benign
R3158:Mmp11 UTSW 10 75,762,948 (GRCm39) unclassified probably benign
R3159:Mmp11 UTSW 10 75,762,948 (GRCm39) unclassified probably benign
R4915:Mmp11 UTSW 10 75,761,419 (GRCm39) missense probably damaging 1.00
R4917:Mmp11 UTSW 10 75,761,419 (GRCm39) missense probably damaging 1.00
R5137:Mmp11 UTSW 10 75,761,290 (GRCm39) missense probably damaging 1.00
R5848:Mmp11 UTSW 10 75,763,223 (GRCm39) missense probably damaging 1.00
R6156:Mmp11 UTSW 10 75,762,325 (GRCm39) missense probably damaging 1.00
R6313:Mmp11 UTSW 10 75,759,818 (GRCm39) makesense probably null
R6569:Mmp11 UTSW 10 75,763,216 (GRCm39) start gained probably benign
R6753:Mmp11 UTSW 10 75,764,208 (GRCm39) missense probably damaging 1.00
R7027:Mmp11 UTSW 10 75,768,230 (GRCm39) unclassified probably benign
R7146:Mmp11 UTSW 10 75,764,280 (GRCm39) missense probably benign
R7163:Mmp11 UTSW 10 75,762,410 (GRCm39) missense possibly damaging 0.64
R7797:Mmp11 UTSW 10 75,759,314 (GRCm39) missense
R9197:Mmp11 UTSW 10 75,763,067 (GRCm39) missense probably damaging 1.00
R9443:Mmp11 UTSW 10 75,762,733 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCGAAGGAAGTCTCACAGACATC -3'
(R):5'- TTCCAGGAACTGACCTGCTGCAAG -3'

Sequencing Primer
(F):5'- AGTCTCACAGACATCTGGCG -3'
(R):5'- TTCTGGGGCTACAACACAC -3'
Posted On 2013-05-23