Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Dmp1'

550984

Institutional Source

Beutler Lab

Gene Symbol

Dmp1

Ensembl Gene

ENSMUSG00000029307

Gene Name

dentin matrix protein 1

Synonyms

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104350479-104361968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104359729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 135 (D135V)

Ref Sequence

ENSEMBL: ENSMUSP00000068053 (fasta)

Gene Model

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

AlphaFold

O55188

Predicted Effect

probably damaging
Transcript: ENSMUST00000066708
AA Change: D135V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: D135V

Domain	Start	End	E-Value	Type
Pfam:DMP1	1	503	9.8e-206	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	probably benign	Het

Other mutations in Dmp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Dmp1	APN	5	104,358,021 (GRCm39)	splice site	probably benign
IGL01063:Dmp1	APN	5	104,354,965 (GRCm39)	start codon destroyed	probably null	0.73
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
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

Predicted Primers

PCR Primer
(F):5'- TACGACAGAGGCCAGTACAG -3'
(R):5'- ATCCCTTCATCATCGAACTCAG -3'

Sequencing Primer
(F):5'- AGGCCAGTACAGACCGG -3'
(R):5'- GAACTCAGAACCGTCCCCGTG -3'

Posted On

2019-05-15