Ptpn13 - SNV Details



 Gene Information 
Gene Name Ptpn13
Old Gene Names for Ptpn13 Ai324989 , Ptpri
Gene Description protein tyrosine phosphatase, non-receptor type 13 [Source:MGI Symbol;Acc:MGI:103293]
MGI phenotype Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.
Uniprot Name
CCDS Name
Gene GO
protein dephosphorylation; cytoplasm; dephosphorylation; cell body; protein tyrosine phosphatase activity; protein binding; nucleus; extracellular vesicular exosome; cytoskeleton; lamellipodium; neuron projection; plasma membrane; peptidyl-tyrosine dephosphorylation; phosphatase activity
Homolog in other species PTPN13
Omim http://omim.org/entry/600267
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
HIGH
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034573
Chromosome 5
Coordinate 103,551,058     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 71
Allele Frequency
A:R0.44
G:V0.56
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL00340
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 63 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved