Incidental Mutation 'IGL02677:Dspp'
ID 303193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dspp
Ensembl Gene ENSMUSG00000053268
Gene Name dentin sialophosphoprotein
Synonyms Dpp, Dsp, Dmp3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02677
Quality Score
Status
Chromosome 5
Chromosomal Location 104318578-104327993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104323843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 329 (T329A)
Ref Sequence ENSEMBL: ENSMUSP00000108391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112771]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000112771
AA Change: T329A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: T329A

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Dspp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R0503:Dspp UTSW 5 104,325,122 (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
Posted On 2015-04-16