Incidental Mutation 'IGL00498:Dmp1'
ID5576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Namedentin matrix protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00498
Quality Score
Status
Chromosome5
Chromosomal Location104202613-104214102 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 104210155 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
Predicted Effect probably benign
Transcript: ENSMUST00000066708
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307

DomainStartEndE-ValueType
Pfam:DMP1 1 503 9.8e-206 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypophosphatemia, rickets, osteomalacia, renal phosphate-wasting, impaired osteocyte maturation, defective dentinogenesis, and severe alveolar bone and cementum defects leading to early periodontal breakdown. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,601,898 G128R unknown Het
Acsm5 T C 7: 119,542,438 probably null Het
Atad2 A C 15: 58,116,820 F423V probably damaging Het
Carmil3 T A 14: 55,501,895 probably null Het
Cdc42bpa A C 1: 180,106,121 E775A probably damaging Het
Cfdp1 T C 8: 111,840,478 E133G probably benign Het
Chst3 A G 10: 60,185,619 F469L possibly damaging Het
Dbx1 T C 7: 49,636,474 D81G probably benign Het
Dnah8 A G 17: 30,677,176 T855A probably benign Het
Fbxw2 C T 2: 34,805,941 A250T probably damaging Het
Fcgbp T C 7: 28,091,797 C828R probably damaging Het
Gmfg G T 7: 28,446,385 R83L possibly damaging Het
Gpr37l1 A G 1: 135,161,702 probably benign Het
Hcfc1r1 G A 17: 23,674,008 R9Q probably damaging Het
Hsd17b1 A T 11: 101,080,058 H280L possibly damaging Het
Hsd17b12 A C 2: 94,083,165 probably null Het
Itga1 A G 13: 115,031,193 V99A probably benign Het
Kcnn1 A G 8: 70,852,880 S229P probably damaging Het
Klhdc8a A G 1: 132,303,018 N207S probably benign Het
Lrrtm4 T C 6: 80,022,546 W314R probably damaging Het
Malrd1 T C 2: 16,142,186 probably benign Het
Marcks T C 10: 37,138,517 K7E probably damaging Het
Mov10 A G 3: 104,800,947 probably benign Het
Pclo A T 5: 14,540,739 T1018S unknown Het
Sdk1 T C 5: 142,085,606 Y1184H probably damaging Het
Slc6a18 A T 13: 73,671,719 M244K possibly damaging Het
Snx19 C T 9: 30,428,937 T457I possibly damaging Het
Stard3 T A 11: 98,376,530 V158D possibly damaging Het
Tnks G T 8: 34,861,689 probably benign Het
Ugt2b34 A G 5: 86,901,225 S314P probably damaging Het
Usp15 G A 10: 123,113,596 S952L probably benign Het
Utp11 A G 4: 124,679,739 V214A possibly damaging Het
Other mutations in Dmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Dmp1 APN 5 104207099 start codon destroyed probably null 0.73
IGL01599:Dmp1 APN 5 104212462 nonsense probably null
IGL01631:Dmp1 APN 5 104212868 missense probably benign 0.04
IGL01646:Dmp1 APN 5 104211865 missense probably damaging 1.00
IGL02611:Dmp1 APN 5 104212514 missense probably damaging 1.00
IGL02642:Dmp1 APN 5 104211670 missense probably damaging 0.97
choppers UTSW 5 104207125 missense probably damaging 1.00
R0197:Dmp1 UTSW 5 104207630 missense possibly damaging 0.82
R0494:Dmp1 UTSW 5 104212208 missense probably damaging 1.00
R0529:Dmp1 UTSW 5 104212226 missense probably benign 0.03
R0850:Dmp1 UTSW 5 104212787 missense possibly damaging 0.86
R0883:Dmp1 UTSW 5 104207630 missense possibly damaging 0.82
R1858:Dmp1 UTSW 5 104207630 missense possibly damaging 0.92
R1869:Dmp1 UTSW 5 104212076 missense probably damaging 1.00
R1995:Dmp1 UTSW 5 104209913 missense possibly damaging 0.60
R2004:Dmp1 UTSW 5 104211924 missense possibly damaging 0.73
R2009:Dmp1 UTSW 5 104212840 missense probably damaging 0.97
R2870:Dmp1 UTSW 5 104212108 missense probably benign 0.05
R2870:Dmp1 UTSW 5 104212108 missense probably benign 0.05
R4716:Dmp1 UTSW 5 104212561 missense probably damaging 0.99
R5687:Dmp1 UTSW 5 104207086 start gained probably benign
R6331:Dmp1 UTSW 5 104207125 missense probably damaging 1.00
R6389:Dmp1 UTSW 5 104212922 missense probably damaging 1.00
R7006:Dmp1 UTSW 5 104212322 missense probably benign 0.02
R7103:Dmp1 UTSW 5 104211863 missense probably damaging 1.00
R7699:Dmp1 UTSW 5 104211724 missense probably damaging 1.00
R8181:Dmp1 UTSW 5 104211514 splice site probably null
R8350:Dmp1 UTSW 5 104212899 missense probably damaging 0.99
R8379:Dmp1 UTSW 5 104211705 nonsense probably null
R8450:Dmp1 UTSW 5 104212899 missense probably damaging 0.99
R8531:Dmp1 UTSW 5 104212403 missense probably damaging 1.00
Z1177:Dmp1 UTSW 5 104211652 missense probably benign 0.04
Posted On2012-04-20