Incidental Mutation 'R8350:Dmp1'
| ID |
645463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmp1
|
| Ensembl Gene |
ENSMUSG00000029307 |
| Gene Name |
dentin matrix protein 1 |
| Synonyms |
|
| MMRRC Submission |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104350479-104361968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104360765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 480
(K480N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066708]
|
| AlphaFold |
O55188 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066708
AA Change: K480N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: K480N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DMP1
|
1 |
503 |
9.8e-206 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Akirin2 |
T |
A |
4: 34,551,082 (GRCm39) |
F13Y |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Armc12 |
T |
A |
17: 28,751,031 (GRCm39) |
D82E |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,841 (GRCm39) |
S382P |
probably benign |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,564,445 (GRCm39) |
L271S |
|
Het |
| Cers3 |
T |
C |
7: 66,414,090 (GRCm39) |
F92S |
possibly damaging |
Het |
| Chmp4c |
A |
T |
3: 10,450,746 (GRCm39) |
M109L |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,882,821 (GRCm39) |
K202* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,267 (GRCm39) |
I70T |
probably damaging |
Het |
| Col27a1 |
C |
A |
4: 63,248,134 (GRCm39) |
T1721K |
unknown |
Het |
| Crtac1 |
G |
A |
19: 42,297,625 (GRCm39) |
R242W |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,286 (GRCm39) |
R296G |
probably benign |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,806 (GRCm39) |
D282G |
possibly damaging |
Het |
| Dip2a |
G |
T |
10: 76,100,690 (GRCm39) |
T1495N |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,687,147 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,977,873 (GRCm39) |
S1820P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,798 (GRCm39) |
V220A |
probably benign |
Het |
| Eif4a3l1 |
C |
T |
6: 136,306,241 (GRCm39) |
T234I |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,853 (GRCm39) |
D344G |
possibly damaging |
Het |
| Esyt2 |
C |
A |
12: 116,327,102 (GRCm39) |
Q557K |
probably damaging |
Het |
| Fam72a |
A |
T |
1: 131,461,663 (GRCm39) |
D116V |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,300 (GRCm39) |
N64S |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,826,435 (GRCm39) |
T358S |
|
Het |
| Frat2 |
A |
T |
19: 41,836,223 (GRCm39) |
I43N |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,226,073 (GRCm39) |
D1863E |
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,422,573 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,363,273 (GRCm39) |
Y422C |
probably damaging |
Het |
| Hap1 |
T |
G |
11: 100,240,107 (GRCm39) |
D563A |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Hs3st3b1 |
G |
C |
11: 63,780,390 (GRCm39) |
P246A |
probably benign |
Het |
| Hsd17b4 |
T |
G |
18: 50,297,734 (GRCm39) |
L341R |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,603 (GRCm39) |
V401M |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,371,429 (GRCm39) |
L120Q |
probably damaging |
Het |
| Mdc1 |
T |
G |
17: 36,159,191 (GRCm39) |
S524A |
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,074 (GRCm39) |
Y168C |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,813 (GRCm39) |
D190E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,096,194 (GRCm39) |
R5039G |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,476 (GRCm39) |
V250E |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,723,254 (GRCm39) |
N1314Y |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,759,024 (GRCm39) |
N143S |
probably benign |
Het |
| Rnf223 |
T |
G |
4: 156,217,120 (GRCm39) |
L165R |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,183,712 (GRCm39) |
F1267Y |
probably damaging |
Het |
| Scrn3 |
T |
G |
2: 73,160,113 (GRCm39) |
I252R |
possibly damaging |
Het |
| Sdr39u1 |
T |
C |
14: 56,135,363 (GRCm39) |
I193M |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,191 (GRCm39) |
R71G |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Syk |
T |
C |
13: 52,774,935 (GRCm39) |
L225P |
probably damaging |
Het |
| Tbx1 |
A |
T |
16: 18,400,795 (GRCm39) |
V463E |
unknown |
Het |
| Tmem67 |
C |
T |
4: 12,087,891 (GRCm39) |
R19H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,609,108 (GRCm39) |
I17666F |
possibly damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,794,831 (GRCm39) |
V1180A |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,152,787 (GRCm39) |
T107A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,099 (GRCm39) |
R58G |
|
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 |
|
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 |
|
|
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'- TGAACACATTCTCCAGCTCAG -3'
(R):5'- TCCAACAGTTCCTCACAGGG -3'
Sequencing Primer
(F):5'- TCTCCGAGGAGAGTCAGGAGTC -3'
(R):5'- CAGTTCCTCACAGGGGGAAAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation