Dspp - SNV Details



 Human Rare Diseases 
Dentinogenesis imperfecta type 3
Dentin dysplasia type I
Dentin dysplasia type II
Dentinogenesis imperfecta type 2

 Gene Information 
Gene Name Dspp
Gene Description dentin sialophosphoprotein [Source:MGI Symbol;Acc:MGI:109172]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
cellular response to cell-matrix adhesion
Omim http://omim.org/entry/125485
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000053268
Chromosome 5
Coordinate 104,175,977     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.45
G:V0.55
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02677
Median Base Quality 38
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.45
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Line Propagating