Incidental Mutation 'R0503:Dspp'
| ID |
47247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dspp
|
| Ensembl Gene |
ENSMUSG00000053268 |
| Gene Name |
dentin sialophosphoprotein |
| Synonyms |
Dpp, Dsp, Dmp3 |
| MMRRC Submission |
038698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0503 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104318578-104327993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104325122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 495
(D495V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112771]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000112771
AA Change: D495V
|
| SMART Domains |
Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: D495V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
82 |
245 |
2.01e-11 |
PROSPERO |
|
low complexity region
|
247 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
285 |
438 |
2.01e-11 |
PROSPERO |
|
internal_repeat_2
|
286 |
369 |
2.15e-10 |
PROSPERO |
|
internal_repeat_2
|
370 |
454 |
2.15e-10 |
PROSPERO |
|
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
944 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mice lacking the encoded protein exhibit hypomineralization defects in dentin, similar to human dentinogenesis imperfecta. [provided by RefSeq, Feb 2016]
PHENOTYPE: Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
| Ccdc65 |
G |
T |
15: 98,607,041 (GRCm39) |
D83Y |
probably damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,698,325 (GRCm39) |
M1K |
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,583 (GRCm39) |
|
noncoding transcript |
Het |
| Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
| Comp |
A |
T |
8: 70,828,384 (GRCm39) |
N130I |
possibly damaging |
Het |
| Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
| Erich2 |
A |
T |
2: 70,340,043 (GRCm39) |
R169S |
probably damaging |
Het |
| Erich2 |
C |
A |
2: 70,371,119 (GRCm39) |
S426R |
unknown |
Het |
| Gab1 |
C |
T |
8: 81,526,771 (GRCm39) |
R109H |
probably damaging |
Het |
| Ggcx |
GTCTAT |
GTCTATCTAT |
6: 72,406,140 (GRCm39) |
|
probably null |
Het |
| Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,735,003 (GRCm39) |
V170M |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,821,802 (GRCm39) |
T212A |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,109 (GRCm39) |
S80P |
probably benign |
Het |
| Lrrc75b |
T |
C |
10: 75,389,488 (GRCm39) |
T81A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,340 (GRCm39) |
I387F |
probably damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,039,641 (GRCm39) |
C110S |
probably benign |
Het |
| Mpig6b |
A |
G |
17: 35,283,424 (GRCm39) |
|
probably benign |
Het |
| Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,161,994 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
T |
3: 55,550,257 (GRCm39) |
G2724S |
possibly damaging |
Het |
| Nck2 |
A |
G |
1: 43,572,728 (GRCm39) |
M1V |
probably null |
Het |
| Nefl |
T |
A |
14: 68,321,432 (GRCm39) |
D7E |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,579,806 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,007 (GRCm39) |
E55K |
probably damaging |
Het |
| Nsun7 |
T |
A |
5: 66,440,924 (GRCm39) |
|
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Or4c109 |
C |
T |
2: 88,818,322 (GRCm39) |
V75I |
probably benign |
Het |
| Or4k5 |
T |
A |
14: 50,385,935 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,671 (GRCm39) |
T208A |
probably damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,354 (GRCm39) |
V113A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,046,217 (GRCm39) |
T165A |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,259,058 (GRCm39) |
H410L |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,620,952 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,731,710 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,138 (GRCm38) |
M1386V |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,730,196 (GRCm39) |
I495K |
possibly damaging |
Het |
| Serpina12 |
C |
A |
12: 103,997,418 (GRCm39) |
A368S |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
| Tspan11 |
T |
C |
6: 127,916,075 (GRCm39) |
W124R |
probably benign |
Het |
| Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,633,711 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,045,127 (GRCm39) |
M644V |
probably benign |
Het |
| Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,609 (GRCm39) |
Y482C |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,545,445 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,091,588 (GRCm39) |
I107N |
probably damaging |
Het |
|
| Other mutations in Dspp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Dspp
|
APN |
5 |
104,324,758 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01096:Dspp
|
APN |
5 |
104,323,233 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01317:Dspp
|
APN |
5 |
104,321,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02365:Dspp
|
APN |
5 |
104,323,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Dspp
|
APN |
5 |
104,323,490 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02406:Dspp
|
APN |
5 |
104,325,232 (GRCm39) |
nonsense |
probably null |
|
|
IGL02445:Dspp
|
APN |
5 |
104,324,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02481:Dspp
|
APN |
5 |
104,323,514 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02536:Dspp
|
APN |
5 |
104,323,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02572:Dspp
|
APN |
5 |
104,324,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02677:Dspp
|
APN |
5 |
104,323,843 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02709:Dspp
|
APN |
5 |
104,325,116 (GRCm39) |
missense |
unknown |
|
|
IGL02723:Dspp
|
APN |
5 |
104,323,041 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02740:Dspp
|
APN |
5 |
104,325,104 (GRCm39) |
nonsense |
probably null |
|
|
IGL03274:Dspp
|
APN |
5 |
104,322,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03293:Dspp
|
APN |
5 |
104,325,427 (GRCm39) |
missense |
unknown |
|
|
FR4449:Dspp
|
UTSW |
5 |
104,326,254 (GRCm39) |
small deletion |
probably benign |
|
|
R0018:Dspp
|
UTSW |
5 |
104,326,096 (GRCm39) |
missense |
unknown |
|
|
R0125:Dspp
|
UTSW |
5 |
104,325,905 (GRCm39) |
missense |
unknown |
|
|
R1709:Dspp
|
UTSW |
5 |
104,323,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1851:Dspp
|
UTSW |
5 |
104,321,951 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2001:Dspp
|
UTSW |
5 |
104,326,425 (GRCm39) |
missense |
unknown |
|
|
R2002:Dspp
|
UTSW |
5 |
104,326,425 (GRCm39) |
missense |
unknown |
|
|
R2198:Dspp
|
UTSW |
5 |
104,323,567 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2279:Dspp
|
UTSW |
5 |
104,326,250 (GRCm39) |
missense |
unknown |
|
|
R4026:Dspp
|
UTSW |
5 |
104,325,563 (GRCm39) |
missense |
unknown |
|
|
R4066:Dspp
|
UTSW |
5 |
104,325,060 (GRCm39) |
missense |
unknown |
|
|
R4632:Dspp
|
UTSW |
5 |
104,325,272 (GRCm39) |
missense |
unknown |
|
|
R4693:Dspp
|
UTSW |
5 |
104,325,928 (GRCm39) |
missense |
unknown |
|
|
R4841:Dspp
|
UTSW |
5 |
104,325,053 (GRCm39) |
missense |
unknown |
|
|
R4841:Dspp
|
UTSW |
5 |
104,325,052 (GRCm39) |
missense |
unknown |
|
|
R4917:Dspp
|
UTSW |
5 |
104,325,789 (GRCm39) |
missense |
unknown |
|
|
R5008:Dspp
|
UTSW |
5 |
104,323,439 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5015:Dspp
|
UTSW |
5 |
104,324,926 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5214:Dspp
|
UTSW |
5 |
104,326,364 (GRCm39) |
missense |
unknown |
|
|
R5359:Dspp
|
UTSW |
5 |
104,323,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5538:Dspp
|
UTSW |
5 |
104,323,096 (GRCm39) |
nonsense |
probably null |
|
|
R5703:Dspp
|
UTSW |
5 |
104,324,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5887:Dspp
|
UTSW |
5 |
104,323,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Dspp
|
UTSW |
5 |
104,325,977 (GRCm39) |
missense |
unknown |
|
|
R5992:Dspp
|
UTSW |
5 |
104,326,317 (GRCm39) |
missense |
unknown |
|
|
R6019:Dspp
|
UTSW |
5 |
104,325,905 (GRCm39) |
missense |
unknown |
|
|
R6191:Dspp
|
UTSW |
5 |
104,325,214 (GRCm39) |
missense |
unknown |
|
|
R6362:Dspp
|
UTSW |
5 |
104,323,900 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6736:Dspp
|
UTSW |
5 |
104,326,041 (GRCm39) |
missense |
unknown |
|
|
R6805:Dspp
|
UTSW |
5 |
104,323,716 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7064:Dspp
|
UTSW |
5 |
104,324,804 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7178:Dspp
|
UTSW |
5 |
104,321,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7243:Dspp
|
UTSW |
5 |
104,326,227 (GRCm39) |
small deletion |
probably benign |
|
|
R7390:Dspp
|
UTSW |
5 |
104,323,552 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7454:Dspp
|
UTSW |
5 |
104,323,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Dspp
|
UTSW |
5 |
104,323,391 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7662:Dspp
|
UTSW |
5 |
104,325,736 (GRCm39) |
missense |
unknown |
|
|
R7739:Dspp
|
UTSW |
5 |
104,326,012 (GRCm39) |
missense |
unknown |
|
|
R7755:Dspp
|
UTSW |
5 |
104,326,227 (GRCm39) |
small deletion |
probably benign |
|
|
R7805:Dspp
|
UTSW |
5 |
104,323,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7869:Dspp
|
UTSW |
5 |
104,323,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7945:Dspp
|
UTSW |
5 |
104,326,227 (GRCm39) |
small deletion |
probably benign |
|
|
R7978:Dspp
|
UTSW |
5 |
104,326,227 (GRCm39) |
small deletion |
probably benign |
|
|
R8088:Dspp
|
UTSW |
5 |
104,325,122 (GRCm39) |
missense |
unknown |
|
|
R8254:Dspp
|
UTSW |
5 |
104,323,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8257:Dspp
|
UTSW |
5 |
104,324,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8439:Dspp
|
UTSW |
5 |
104,325,162 (GRCm39) |
missense |
unknown |
|
|
R8486:Dspp
|
UTSW |
5 |
104,321,883 (GRCm39) |
start gained |
probably benign |
|
|
R8722:Dspp
|
UTSW |
5 |
104,326,433 (GRCm39) |
missense |
unknown |
|
|
R8969:Dspp
|
UTSW |
5 |
104,325,640 (GRCm39) |
missense |
unknown |
|
|
R9254:Dspp
|
UTSW |
5 |
104,322,760 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9379:Dspp
|
UTSW |
5 |
104,322,760 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9509:Dspp
|
UTSW |
5 |
104,325,657 (GRCm39) |
missense |
unknown |
|
|
R9647:Dspp
|
UTSW |
5 |
104,323,636 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF007:Dspp
|
UTSW |
5 |
104,326,227 (GRCm39) |
small deletion |
probably benign |
|
|
RF044:Dspp
|
UTSW |
5 |
104,326,290 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCGATGACGAGTCCATGCAAG -3'
(R):5'- ACTGCTGTCACTGCTGTCACTACTG -3'
Sequencing Primer
(F):5'- GTCCATGCAAGGAGATGATCCC -3'
(R):5'- actactgtcgctgctgtc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation