Incidental Mutation 'IGL02642:Dmp1'
ID301757
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 #IGL02642
Quality Score
Status
Chromosome5
Chromosomal Location104202613-104214102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104211670 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 71 (S71P)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
Predicted Effect probably damaging
Transcript: ENSMUST00000066708
AA Change: S71P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: S71P

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,939,083 D68G probably damaging Het
Aes A T 10: 81,561,292 Q34L possibly damaging Het
Amer3 A G 1: 34,586,680 probably benign Het
Ankrd11 A G 8: 122,890,651 L2133P probably damaging Het
Bcdin3d G T 15: 99,470,792 H175Q probably damaging Het
Brd8 C A 18: 34,608,064 probably benign Het
C1rl C A 6: 124,493,847 T38N possibly damaging Het
Cd160 T C 3: 96,800,611 T140A probably benign Het
Cdk16 T G X: 20,696,928 D381E probably benign Het
Cpq G A 15: 33,381,400 G303D probably damaging Het
Enc1 A C 13: 97,245,534 D184A possibly damaging Het
Enkur T C 2: 21,194,387 D112G probably benign Het
Esrra A T 19: 6,912,850 V59E possibly damaging Het
F830016B08Rik A G 18: 60,299,986 N47S probably benign Het
Fads1 T A 19: 10,186,421 V189D probably damaging Het
Fam160b1 A G 19: 57,385,350 N681D possibly damaging Het
Fam167a T A 14: 63,452,272 I6N probably damaging Het
Fam98b A G 2: 117,260,312 T164A probably benign Het
Fryl T A 5: 73,095,466 I953L probably benign Het
Gm10610 T A 7: 83,549,605 noncoding transcript Het
Grik5 G T 7: 25,058,983 N338K possibly damaging Het
Gstt2 A G 10: 75,832,818 I72T probably benign Het
Gusb T C 5: 130,000,535 probably null Het
Hccs A G X: 169,315,592 probably benign Het
Hoxb4 A G 11: 96,320,224 K217E probably damaging Het
Hpd C T 5: 123,181,440 V22I possibly damaging Het
Ighv1-47 A G 12: 114,991,224 Y79H probably damaging Het
Il7r C A 15: 9,513,047 probably benign Het
Lama1 A T 17: 67,812,366 M2613L probably benign Het
Lama2 G A 10: 27,467,273 H68Y probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrfn1 T C 7: 28,458,688 probably benign Het
Lrriq1 T A 10: 103,221,461 probably null Het
Mri1 A T 8: 84,257,073 L63Q probably damaging Het
Mrps11 G T 7: 78,788,774 probably null Het
Mtif2 C A 11: 29,544,395 Q666K probably benign Het
Mtr A T 13: 12,195,232 probably benign Het
Mug1 A G 6: 121,882,585 N1181S probably benign Het
Myom1 A T 17: 71,101,098 E1209V possibly damaging Het
Nhsl1 A G 10: 18,408,390 I26M possibly damaging Het
Nlrp1a T A 11: 71,123,532 K297N probably benign Het
Obox5 T C 7: 15,758,047 V129A probably benign Het
Pex16 C T 2: 92,376,636 A53V probably damaging Het
Pfpl T C 19: 12,429,743 F453L probably damaging Het
Pip5k1b G T 19: 24,346,367 H406N probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plcxd3 T C 15: 4,516,640 F42S possibly damaging Het
Pnpla7 T C 2: 25,050,276 F1056L probably benign Het
Rapgef1 T C 2: 29,700,860 probably benign Het
Rdh11 G A 12: 79,185,336 probably benign Het
Serac1 A G 17: 6,045,746 F576S possibly damaging Het
Slc45a4 A T 15: 73,586,815 M295K probably benign Het
Taf1c T C 8: 119,599,057 T689A probably benign Het
Timm10b G T 7: 105,668,438 probably benign Het
Tnc A T 4: 63,965,579 probably benign Het
Toporsl T C 4: 52,611,114 W336R probably benign Het
Usp54 C A 14: 20,565,072 probably benign Het
Vmn1r233 T C 17: 20,994,029 R220G probably damaging Het
Other mutations in Dmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Dmp1 APN 5 104210155 splice site probably benign
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
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 On2015-04-16