Incidental Mutation 'IGL01634:Mmp20'
ID93554
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: 0.069) question?
Stock #IGL01634
Quality Score
Status
Chromosome9
Chromosomal Location7628231-7674979 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 7635148 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 43 (Y43*)
Ref Sequence ENSEMBL: ENSMUSP00000034487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034487]
Predicted Effect probably null
Transcript: ENSMUST00000034487
AA Change: Y43*
SMART Domains Protein: ENSMUSP00000034487
Gene: ENSMUSG00000018620
AA Change: Y43*

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,900,904 noncoding transcript Het
4933421I07Rik C T 7: 42,447,699 D63N probably benign Het
Alg9 C A 9: 50,775,377 probably null Het
Anln T C 9: 22,360,475 T695A probably benign Het
Aox4 G T 1: 58,221,930 D141Y possibly damaging Het
Arhgap21 C A 2: 20,914,644 Q84H probably benign Het
Arnt G A 3: 95,470,398 probably benign Het
Atp8a2 T A 14: 59,998,062 Y677F probably benign Het
Car6 C T 4: 150,198,153 V12M probably benign Het
Cd209d A T 8: 3,877,974 probably null Het
Ctnna1 T A 18: 35,223,448 V390E probably damaging Het
Cypt4 T A 9: 24,625,656 N147K possibly damaging Het
Dnah10 C A 5: 124,821,341 A3729E probably damaging Het
Dusp8 A G 7: 142,084,423 V156A probably benign Het
Ecm1 G A 3: 95,734,899 P458L probably damaging Het
Fat3 T G 9: 15,998,358 Y2116S probably damaging Het
Fscn3 T A 6: 28,430,538 Y236N probably damaging Het
Gaa G A 11: 119,274,076 S265N possibly damaging Het
Gas7 T C 11: 67,674,231 probably benign Het
Gbp8 T C 5: 105,018,572 K297R probably damaging Het
Gm1818 G A 12: 48,556,209 noncoding transcript Het
Gm5114 G T 7: 39,408,647 T516K probably benign Het
Hectd1 A G 12: 51,803,779 S165P probably damaging Het
Hoxb4 G T 11: 96,318,900 R44L probably damaging Het
Ivd G A 2: 118,876,382 R285H probably damaging Het
Krtap20-2 T C 16: 89,206,089 F59S unknown Het
Megf8 G A 7: 25,358,781 probably benign Het
Mgat4d A T 8: 83,368,116 M261L possibly damaging Het
Mlc1 A T 15: 88,974,718 probably benign Het
Morc3 G A 16: 93,873,237 V767I probably benign Het
Myo15 A G 11: 60,495,472 T1808A probably damaging Het
Notch4 T C 17: 34,572,588 F574L probably damaging Het
Npas3 G A 12: 53,947,163 V164M probably damaging Het
Nptx1 A G 11: 119,544,672 Y273H probably damaging Het
Oaf T C 9: 43,224,004 N159S probably damaging Het
Olfr1216 T A 2: 89,013,444 I207F probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr994 A T 2: 85,430,439 L130H probably damaging Het
Pgm1 T C 5: 64,100,974 F101L probably benign Het
Pkd1l3 A C 8: 109,667,525 probably null Het
Plcd1 C T 9: 119,073,789 R527H probably damaging Het
Rexo2 C T 9: 48,468,915 E206K probably damaging Het
Ropn1 C A 16: 34,666,778 T28N possibly damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpgrip1l T A 8: 91,252,544 S998C probably benign Het
Rpgrip1l C A 8: 91,252,543 S998I probably benign Het
Scap T C 9: 110,378,789 probably null Het
Sec23b T C 2: 144,559,230 Y4H probably damaging Het
Sfrp4 C A 13: 19,623,630 D66E possibly damaging Het
Slc25a36 T C 9: 97,080,481 T13A probably benign Het
Synpr A T 14: 13,608,576 I119F possibly damaging Het
Tamm41 A C 6: 115,016,098 H109Q probably benign Het
Tet1 A T 10: 62,878,588 I476K possibly damaging Het
Tg A T 15: 66,729,566 I142F probably benign Het
Thada A T 17: 84,393,358 probably null Het
Triobp T C 15: 78,993,368 L1654P probably damaging Het
Trpm7 A G 2: 126,826,818 V726A probably damaging Het
Txndc15 T G 13: 55,721,625 V197G probably damaging Het
Ubr3 A T 2: 69,973,572 T1169S probably benign Het
Uhmk1 C T 1: 170,207,113 probably null Het
Vmn2r16 T A 5: 109,340,311 M350K probably benign Het
Vmn2r77 G A 7: 86,811,649 V728I probably benign Het
Wipf1 G A 2: 73,447,881 P7S unknown Het
Zswim3 A G 2: 164,820,002 D134G probably damaging Het
Other mutations in Mmp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Mmp20 APN 9 7628329 missense probably benign
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
IGL02496:Mmp20 APN 9 7654041 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
Z1177:Mmp20 UTSW 9 7644062 missense probably benign 0.00
Posted On2013-12-09