Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Dmp1'

92070

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmp1

Ensembl Gene

ENSMUSG00000029307

Gene Name

dentin matrix protein 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

104202613-104214102 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 104212462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 335 (Q335*)

Ref Sequence

ENSEMBL: ENSMUSP00000068053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066708]

AlphaFold

O55188

Predicted Effect

probably null
Transcript: ENSMUST00000066708
AA Change: Q335*

SMART Domains

Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: Q335*

Domain	Start	End	E-Value	Type
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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	Het

Other mutations in Dmp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Dmp1	APN	5	104210155	splice site	probably benign
IGL01063:Dmp1	APN	5	104207099	start codon destroyed	probably null	0.73
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
R9316:Dmp1	UTSW	5	104209901	missense	probably benign	0.45
Z1177:Dmp1	UTSW	5	104211652	missense	probably benign	0.04

Posted On

2013-12-09