Incidental Mutation 'IGL01063:Dmp1'
ID 51015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Name dentin matrix protein 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01063
Quality Score
Chromosome 5
Chromosomal Location 104350479-104361968 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) G to A at 104354965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
AlphaFold O55188
Predicted Effect probably null
Transcript: ENSMUST00000066708
AA Change: M1I

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: M1I

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kcnq2 A G 2: 180,751,582 (GRCm39) probably benign Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mki67 A T 7: 135,296,651 (GRCm39) D2794E possibly damaging Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Rfx8 T A 1: 39,722,110 (GRCm39) K292* probably null Het
Scamp3 C A 3: 89,084,973 (GRCm39) probably benign Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S probably damaging Het
Other mutations in Dmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Dmp1 APN 5 104,358,021 (GRCm39) splice site probably benign
IGL01599:Dmp1 APN 5 104,360,328 (GRCm39) nonsense probably null
IGL01631:Dmp1 APN 5 104,360,734 (GRCm39) missense probably benign 0.04
IGL01646:Dmp1 APN 5 104,359,731 (GRCm39) missense probably damaging 1.00
IGL02611:Dmp1 APN 5 104,360,380 (GRCm39) missense probably damaging 1.00
IGL02642:Dmp1 APN 5 104,359,536 (GRCm39) missense probably damaging 0.97
choppers UTSW 5 104,354,991 (GRCm39) missense probably damaging 1.00
R0197:Dmp1 UTSW 5 104,355,496 (GRCm39) missense possibly damaging 0.82
R0494:Dmp1 UTSW 5 104,360,074 (GRCm39) missense probably damaging 1.00
R0529:Dmp1 UTSW 5 104,360,092 (GRCm39) missense probably benign 0.03
R0850:Dmp1 UTSW 5 104,360,653 (GRCm39) missense possibly damaging 0.86
R0883:Dmp1 UTSW 5 104,355,496 (GRCm39) missense possibly damaging 0.82
R1858:Dmp1 UTSW 5 104,355,496 (GRCm39) missense possibly damaging 0.92
R1869:Dmp1 UTSW 5 104,359,942 (GRCm39) missense probably damaging 1.00
R1995:Dmp1 UTSW 5 104,357,779 (GRCm39) missense possibly damaging 0.60
R2004:Dmp1 UTSW 5 104,359,790 (GRCm39) missense possibly damaging 0.73
R2009:Dmp1 UTSW 5 104,360,706 (GRCm39) missense probably damaging 0.97
R2870:Dmp1 UTSW 5 104,359,974 (GRCm39) missense probably benign 0.05
R2870:Dmp1 UTSW 5 104,359,974 (GRCm39) missense probably benign 0.05
R4716:Dmp1 UTSW 5 104,360,427 (GRCm39) missense probably damaging 0.99
R5687:Dmp1 UTSW 5 104,354,952 (GRCm39) start gained probably benign
R6331:Dmp1 UTSW 5 104,354,991 (GRCm39) missense probably damaging 1.00
R6389:Dmp1 UTSW 5 104,360,788 (GRCm39) missense probably damaging 1.00
R7006:Dmp1 UTSW 5 104,360,188 (GRCm39) missense probably benign 0.02
R7103:Dmp1 UTSW 5 104,359,729 (GRCm39) missense probably damaging 1.00
R7699:Dmp1 UTSW 5 104,359,590 (GRCm39) missense probably damaging 1.00
R8181:Dmp1 UTSW 5 104,359,380 (GRCm39) splice site probably null
R8350:Dmp1 UTSW 5 104,360,765 (GRCm39) missense probably damaging 0.99
R8379:Dmp1 UTSW 5 104,359,571 (GRCm39) nonsense probably null
R8450:Dmp1 UTSW 5 104,360,765 (GRCm39) missense probably damaging 0.99
R8531:Dmp1 UTSW 5 104,360,269 (GRCm39) missense probably damaging 1.00
R9316:Dmp1 UTSW 5 104,357,767 (GRCm39) missense probably benign 0.45
Z1177:Dmp1 UTSW 5 104,359,518 (GRCm39) missense probably benign 0.04
Posted On 2013-06-21