Incidental Mutation 'IGL00973:Dspp'
ID27524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dspp
Ensembl Gene ENSMUSG00000053268
Gene Namedentin sialophosphoprotein
SynonymsDmp3, Dsp, Dpp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00973
Quality Score
Status
Chromosome5
Chromosomal Location104170712-104180127 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 104176892 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamine at position 374 (K374Q)
Ref Sequence ENSEMBL: ENSMUSP00000108391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112771]
Predicted Effect possibly damaging
Transcript: ENSMUST00000112771
AA Change: K374Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: K374Q

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,807,470 D906Y probably damaging Het
Cdh18 A G 15: 23,173,796 K32R probably damaging Het
Chtf18 G A 17: 25,722,116 A636V probably benign Het
Clcn6 A G 4: 148,013,788 probably benign Het
Dusp27 T C 1: 166,099,458 S862G probably benign Het
Ehmt2 C T 17: 34,910,815 R962C probably damaging Het
Frrs1l T C 4: 56,972,369 K111E probably damaging Het
Galnt5 A G 2: 57,998,939 T184A probably benign Het
Glud1 C T 14: 34,319,942 T169I probably damaging Het
Hinfp T G 9: 44,298,139 D283A probably benign Het
Hmcn2 C T 2: 31,383,821 probably benign Het
Hs6st3 A T 14: 119,869,407 Y409F possibly damaging Het
Ighv15-2 A T 12: 114,564,870 V20D possibly damaging Het
Kif17 A G 4: 138,275,057 T91A probably benign Het
Mical3 T C 6: 120,934,924 probably benign Het
Myo1e C T 9: 70,338,787 T420M probably damaging Het
Olfr876 C A 9: 37,804,782 S290R probably damaging Het
Ovgp1 T A 3: 105,981,277 Y316* probably null Het
Plekha1 T A 7: 130,911,013 V313D probably damaging Het
Polr1e C A 4: 45,031,364 probably benign Het
Prdm15 A T 16: 97,806,167 probably benign Het
Ptpn4 T A 1: 119,741,371 M250L probably benign Het
Rtn1 A T 12: 72,408,511 L14Q probably benign Het
Sec24a T C 11: 51,729,577 probably null Het
Sox7 A G 14: 63,948,187 H224R probably benign Het
Sucla2 T C 14: 73,590,907 I318T possibly damaging Het
Tubb4b-ps1 A G 5: 7,179,408 probably benign Het
Ube2o T A 11: 116,541,205 K940M probably damaging Het
Usp20 A C 2: 31,004,950 N149T probably damaging Het
Utp6 C T 11: 79,955,705 W150* probably null Het
Wdr27 A C 17: 14,913,878 H475Q probably benign Het
Other mutations in Dspp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Dspp APN 5 104175367 missense possibly damaging 0.92
IGL01317:Dspp APN 5 104174048 missense probably damaging 0.99
IGL02365:Dspp APN 5 104176061 missense probably damaging 1.00
IGL02387:Dspp APN 5 104175624 missense possibly damaging 0.82
IGL02406:Dspp APN 5 104177366 nonsense probably null
IGL02445:Dspp APN 5 104177097 missense probably damaging 0.99
IGL02481:Dspp APN 5 104175648 missense possibly damaging 0.94
IGL02536:Dspp APN 5 104175665 missense probably damaging 0.99
IGL02572:Dspp APN 5 104177069 missense probably damaging 0.99
IGL02677:Dspp APN 5 104175977 missense possibly damaging 0.78
IGL02709:Dspp APN 5 104177250 missense unknown
IGL02723:Dspp APN 5 104175175 missense probably benign 0.03
IGL02740:Dspp APN 5 104177238 nonsense probably null
IGL03274:Dspp APN 5 104174948 missense probably damaging 0.99
IGL03293:Dspp APN 5 104177561 missense unknown
FR4449:Dspp UTSW 5 104178388 small deletion probably benign
R0018:Dspp UTSW 5 104178230 missense unknown
R0125:Dspp UTSW 5 104178039 missense unknown
R0503:Dspp UTSW 5 104177256 missense unknown
R1709:Dspp UTSW 5 104175724 missense probably damaging 0.98
R1851:Dspp UTSW 5 104174085 critical splice donor site probably null
R2001:Dspp UTSW 5 104178559 missense unknown
R2002:Dspp UTSW 5 104178559 missense unknown
R2198:Dspp UTSW 5 104175701 missense probably benign 0.37
R2279:Dspp UTSW 5 104178384 missense unknown
R4026:Dspp UTSW 5 104177697 missense unknown
R4066:Dspp UTSW 5 104177194 missense unknown
R4632:Dspp UTSW 5 104177406 missense unknown
R4693:Dspp UTSW 5 104178062 missense unknown
R4841:Dspp UTSW 5 104177186 missense unknown
R4841:Dspp UTSW 5 104177187 missense unknown
R4917:Dspp UTSW 5 104177923 missense unknown
R5008:Dspp UTSW 5 104175573 missense possibly damaging 0.66
R5015:Dspp UTSW 5 104177060 missense possibly damaging 0.46
R5214:Dspp UTSW 5 104178498 missense unknown
R5359:Dspp UTSW 5 104175886 missense probably damaging 0.98
R5538:Dspp UTSW 5 104175230 nonsense probably null
R5703:Dspp UTSW 5 104177051 missense possibly damaging 0.82
R5887:Dspp UTSW 5 104175455 missense probably damaging 1.00
R5902:Dspp UTSW 5 104178111 missense unknown
R5992:Dspp UTSW 5 104178451 missense unknown
R6019:Dspp UTSW 5 104178039 missense unknown
R6191:Dspp UTSW 5 104177348 missense unknown
R6362:Dspp UTSW 5 104176034 missense probably benign 0.19
R6736:Dspp UTSW 5 104178175 missense unknown
R6805:Dspp UTSW 5 104175850 missense probably benign 0.03
R7064:Dspp UTSW 5 104176938 missense possibly damaging 0.73
R7178:Dspp UTSW 5 104174066 missense probably benign 0.02
R7243:Dspp UTSW 5 104178361 small deletion probably benign
Posted On2013-04-17