Trrap - SNV Details



 Gene Information 
Gene Name Trrap
Old Gene Names for Trrap Ai481500
Gene Description transformation/transcription domain-associated protein [Source:MGI Symbol;Acc:MGI:2153272]
MGI phenotype Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells.
Uniprot Name
CCDS Name
Gene GO
histone H4 acetylation; histone acetyltransferase complex; transcription coactivator activity; histone deubiquitination; NuA4 histone acetyltransferase complex; histone H2A acetylation; transferase activity
transferring phosphorus-containing groups; transcription factor complex; protein binding; mitotic cell cycle checkpoint; binding; nucleus; phosphotransferase activity
alcohol group as acceptor; transcription factor TFTC complex; regulation of transcription
DNA-dependent; transcription cofactor activity; STAGA complex
Homolog in other species TRRAP
Omim http://omim.org/entry/603015
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
HIGH
Gnf Expression
HIGH
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045482
Chromosome 5
Coordinate 144,833,340     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.61
G:V0.39
Amino Acid Position 2738
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01748
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000098035:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
PIK-related kinase PIK_FAT IPR014009 ENSMUSP00000098035 Prosite_profiles 2685
3245 Description available Search pathways

 Availability Details 
Availability Cryopreserved