Incidental Mutation 'R0541:Mmp11'
ID49921
Institutional Source Beutler Lab
Gene Symbol Mmp11
Ensembl Gene ENSMUSG00000000901
Gene Namematrix metallopeptidase 11
SynonymsST3, stromelysin 3, Stmy3
MMRRC Submission 038733-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0541 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location75923222-75936496 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 75926933 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 229 (H229N)
Ref Sequence ENSEMBL: ENSMUSP00000112940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000924] [ENSMUST00000120281] [ENSMUST00000132869] [ENSMUST00000219728]
Predicted Effect probably damaging
Transcript: ENSMUST00000000924
AA Change: H229N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000924
Gene: ENSMUSG00000000901
AA Change: H229N

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 damaging
Transcript: ENSMUST00000120281
AA Change: H229N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112940
Gene: ENSMUSG00000000901
AA Change: H229N

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 0.9683 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
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
4933402N03Rik T C 7: 131,139,143 M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,587,400 probably null Het
Abca7 C T 10: 80,007,351 A1220V probably benign Het
Adamts19 G A 18: 58,927,300 probably null Het
Agbl1 G A 7: 76,409,245 V194M probably benign Het
Arhgap20 G T 9: 51,849,663 S902I probably damaging Het
Atp11b T G 3: 35,806,944 D193E probably damaging Het
B3gntl1 A T 11: 121,644,604 probably benign Het
C2cd2 T C 16: 97,922,296 E7G possibly damaging Het
Camta2 A G 11: 70,681,621 L259P probably benign Het
Ccni T C 5: 93,187,704 N192D probably benign Het
Cgnl1 A G 9: 71,651,253 I946T possibly damaging Het
Chil3 T C 3: 106,161,232 probably null Het
Cntn5 A G 9: 9,673,402 probably benign Het
Cpn2 C T 16: 30,259,351 G511S possibly damaging Het
Dagla C A 19: 10,254,806 probably null Het
Dcc T C 18: 71,259,015 N1440S probably damaging Het
Drosha T A 15: 12,907,388 N1069K probably benign Het
Edc4 A G 8: 105,889,428 T812A probably benign Het
Eml4 A G 17: 83,440,042 I238V probably benign Het
Ep400 T C 5: 110,705,016 T1288A unknown Het
Fastkd1 A C 2: 69,702,406 L539R probably damaging Het
Fbln7 G A 2: 128,877,534 probably benign Het
Fbxo39 A G 11: 72,318,471 I386V probably benign Het
Gm17430 T C 18: 9,726,267 K135R probably damaging Het
Gm3646 T A 1: 39,804,323 T8S unknown Het
Gtsf1 A T 15: 103,421,192 V100E possibly damaging Het
Helz2 A G 2: 181,234,825 F1292S possibly damaging Het
Igf2bp3 G A 6: 49,107,467 probably benign Het
Ip6k2 T G 9: 108,804,627 D252E probably damaging Het
Iqck T A 7: 118,915,594 L232Q probably damaging Het
Kif18b A G 11: 102,915,175 V186A probably damaging Het
Klhl6 T A 16: 19,949,447 probably null Het
Lao1 C T 4: 118,963,802 T75I probably benign Het
Lyst T C 13: 13,681,293 F2400L probably benign Het
Map3k9 A T 12: 81,734,223 S388T possibly damaging Het
Myh7 T G 14: 54,974,701 I1529L probably benign Het
Nckap5 G T 1: 126,695,722 D11E possibly damaging Het
Ncoa1 A T 12: 4,323,033 F123I probably damaging Het
Nelfb A T 2: 25,203,980 D385E probably benign Het
Obscn C T 11: 59,081,984 V2288M probably damaging Het
Olfr1428 C T 19: 12,109,520 V9M possibly damaging Het
Olfr1445 A G 19: 12,884,094 Y71C probably damaging Het
Olfr38 A G 6: 42,762,220 H56R probably damaging Het
Olfr686 A T 7: 105,204,160 M61K probably damaging Het
Otog T A 7: 46,269,249 probably benign Het
Oxa1l A G 14: 54,368,189 E375G possibly damaging Het
Pan2 T A 10: 128,308,222 I129K possibly damaging Het
Parp1 A G 1: 180,599,051 I919M probably benign Het
Pnpla7 T C 2: 24,995,293 Y174H probably damaging Het
Polr3b T C 10: 84,638,064 F169S probably damaging Het
Rab10 T C 12: 3,264,743 D45G probably damaging Het
Reln A G 5: 21,980,109 S1537P possibly damaging Het
Sema6d T A 2: 124,665,277 S1045T probably benign Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Spidr T A 16: 15,915,365 I589F probably damaging Het
Stmn4 A C 14: 66,357,939 I165L probably benign Het
Stx5a T C 19: 8,749,937 M177T probably damaging Het
Tll1 T C 8: 64,038,452 probably null Het
Tmem192 T C 8: 64,964,260 Y168H probably damaging Het
Ttc21a C T 9: 119,956,826 probably benign Het
Ush2a A G 1: 188,714,466 probably benign Het
Vezf1 A G 11: 88,081,577 M255V possibly damaging Het
Vmn2r25 A G 6: 123,839,827 F265S probably damaging Het
Vps13a A G 19: 16,704,577 S1021P probably benign Het
Wfdc16 T C 2: 164,635,853 E92G possibly damaging Het
Zkscan2 T C 7: 123,480,200 T845A possibly damaging Het
Other mutations in Mmp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Mmp11 APN 10 75926821 missense probably benign 0.00
IGL01690:Mmp11 APN 10 75926896 missense probably damaging 1.00
IGL01804:Mmp11 APN 10 75928470 missense probably benign
R0285:Mmp11 UTSW 10 75925668 missense probably damaging 1.00
R0491:Mmp11 UTSW 10 75926758 missense probably benign 0.04
R1857:Mmp11 UTSW 10 75928357 missense probably benign 0.01
R2400:Mmp11 UTSW 10 75925510 missense probably benign 0.18
R2442:Mmp11 UTSW 10 75927245 missense probably benign 0.09
R3157:Mmp11 UTSW 10 75927114 unclassified probably benign
R3158:Mmp11 UTSW 10 75927114 unclassified probably benign
R3159:Mmp11 UTSW 10 75927114 unclassified probably benign
R4915:Mmp11 UTSW 10 75925585 missense probably damaging 1.00
R4917:Mmp11 UTSW 10 75925585 missense probably damaging 1.00
R5137:Mmp11 UTSW 10 75925456 missense probably damaging 1.00
R5848:Mmp11 UTSW 10 75927389 missense probably damaging 1.00
R6156:Mmp11 UTSW 10 75926491 missense probably damaging 1.00
R6313:Mmp11 UTSW 10 75923984 makesense probably null
R6569:Mmp11 UTSW 10 75927382 start gained probably benign
R6753:Mmp11 UTSW 10 75928374 missense probably damaging 1.00
R7027:Mmp11 UTSW 10 75932396 unclassified probably benign
R7146:Mmp11 UTSW 10 75928446 missense probably benign
R7163:Mmp11 UTSW 10 75926576 missense possibly damaging 0.64
R7797:Mmp11 UTSW 10 75923480 missense
Predicted Primers PCR Primer
(F):5'- GCACATACTGGAGCCATAAGACCG -3'
(R):5'- GACCCATCTTCCAGATGAGGCAAC -3'

Sequencing Primer
(F):5'- CAGCAGTGCAATCTCATTGG -3'
(R):5'- TCTTCCAGATGAGGCAACTAAGG -3'
Posted On2013-06-12