Postn - SNV Details



 Gene Information 
Gene Name Postn
Old Gene Names for Postn A630052e07rik
Gene Description periostin, osteoblast specific factor [Source:MGI Symbol;Acc:MGI:1926321]
MGI phenotype Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities.
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; cell adhesion; proteinaceous extracellular matrix; regulation of Notch signaling pathway; protein binding; heparin binding; extracellular matrix organization; tissue development
Homolog in other species POSTN
Omim http://omim.org/entry/608777
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027750
Chromosome 3
Coordinate 54,377,204     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.57
T:V0.43
Amino Acid Change N->I (Asparagine -> Isoleucine)
Sample ID IGL02578
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved