Incidental Mutation 'IGL02496:Mmp20'
ID295817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp20
Ensembl Gene ENSMUSG00000018620
Gene Namematrix metallopeptidase 20 (enamelysin)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02496
Quality Score
Status
Chromosome9
Chromosomal Location7628231-7674979 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7654041 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 321 (R321G)
Ref Sequence ENSEMBL: ENSMUSP00000034487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034487]
Predicted Effect probably damaging
Transcript: ENSMUST00000034487
AA Change: R321G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: R321G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PG_binding_1 34 94 2.3e-9 PFAM
ZnMc 112 271 6.89e-67 SMART
HX 301 344 7.07e-6 SMART
HX 346 388 1.27e-7 SMART
HX 393 440 3.76e-10 SMART
HX 442 482 6.8e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the matrix metalloproteinase family of zinc-dependent endopeptidases capable of degrading extracellular matrix proteins. This gene is expressed specifically in the ameloblasts and odontoblasts, and the encoded protein is an inactive zymogen that requires proteolytic removal of a N-terminal propeptide to become enzymatically active. Mice lacking the encoded protein display an amelogenesis imperfecta phenotype. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Csn1s1 C T 5: 87,677,594 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hfm1 T C 5: 106,901,761 S445G probably benign Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pcdhb6 A G 18: 37,335,454 D476G probably damaging Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr2 A G 9: 92,289,663 I103V probably benign Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc22a23 T A 13: 34,344,485 I105F possibly damaging Het
Slc25a20 T A 9: 108,682,400 I221N probably damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Mmp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Mmp20 APN 9 7628329 missense probably benign
IGL01634:Mmp20 APN 9 7635148 nonsense probably null
IGL01682:Mmp20 APN 9 7671375 missense probably benign 0.01
IGL01997:Mmp20 APN 9 7639260 missense probably benign 0.03
IGL02211:Mmp20 APN 9 7655070 missense probably damaging 1.00
IGL02902:Mmp20 APN 9 7654170 splice site probably null
IGL03340:Mmp20 APN 9 7643994 missense probably damaging 1.00
titanium UTSW 9 7654143 nonsense probably null
PIT4519001:Mmp20 UTSW 9 7628301 missense probably benign 0.00
R0082:Mmp20 UTSW 9 7642807 missense probably benign 0.00
R0480:Mmp20 UTSW 9 7645373 missense probably damaging 1.00
R1449:Mmp20 UTSW 9 7642768 missense probably damaging 1.00
R1994:Mmp20 UTSW 9 7645292 missense probably benign 0.00
R4343:Mmp20 UTSW 9 7628345 frame shift probably null
R4825:Mmp20 UTSW 9 7654120 missense probably damaging 1.00
R4835:Mmp20 UTSW 9 7645299 missense probably benign 0.00
R4836:Mmp20 UTSW 9 7644026 missense possibly damaging 0.89
R5488:Mmp20 UTSW 9 7643957 critical splice acceptor site probably null
R5489:Mmp20 UTSW 9 7643957 critical splice acceptor site probably null
R5759:Mmp20 UTSW 9 7628377 critical splice donor site probably null
R5880:Mmp20 UTSW 9 7655001 missense probably benign 0.20
R6029:Mmp20 UTSW 9 7639301 missense probably benign
R6510:Mmp20 UTSW 9 7643966 missense probably damaging 1.00
R7580:Mmp20 UTSW 9 7654143 nonsense probably null
R7635:Mmp20 UTSW 9 7639334 missense probably benign 0.00
R7904:Mmp20 UTSW 9 7644075 missense possibly damaging 0.69
R8902:Mmp20 UTSW 9 7639287 missense probably benign
Z1177:Mmp20 UTSW 9 7644062 missense probably benign 0.00
Posted On2015-04-16