Tiparp - SNV Details




Date removed: 22/11/2013
 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 65,552,609     (Assembly: GRCm38)    
Ref Base G
Codon Change Gga/Tga
Var Base T
Zygosity Heterozygous
Read Depth 78
Allele Frequency
G:R0.47
T:V0.51
Amino Acid Position 442
Amino Acid Change G->Stop (Glycine -> Stop)
Sample ID IGL01456
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved