Tiparp - SNV Details



 Gene Information 
Gene Name Tiparp
Old Gene Names for Tiparp Aw558171
Gene Description TCDD-inducible poly(ADP-ribose) polymerase [Source:MGI Symbol;Acc:MGI:2159210]
MGI phenotype Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects, kidney defects and embryonic hemorrhaging.
Uniprot Name
CCDS Name
Gene GO
platelet-derived growth factor receptor signaling pathway; face morphogenesis; vasculogenesis; androgen metabolic process; protein ADP-ribosylation; zinc ion binding; smooth muscle tissue development; female gonad development; kidney development; palate development; post-embryonic development; hemopoiesis; cellular_component; skeletal system morphogenesis; nucleic acid binding; nitrogen compound metabolic process; estrogen metabolic process; NAD+ ADP-ribosyltransferase activity; molecular_function; multicellular organismal metabolic process
Homolog in other species TIPARP
Omim http://omim.org/entry/612480
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034640
Chromosome 3
Coordinate 65,531,976     (Assembly: GRCm38)    
Ref Base G
Codon Change Gag/Aag
Var Base A
Zygosity Heterozygous
Read Depth 98
Allele Frequency
G:R0.56
A:V0.44
Amino Acid Position 238
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL01590
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.41
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved