Ep400 - SNV Details



 Gene Information 
Gene Name Ep400
Old Gene Names for Ep400 1700020j09rik , Au023439
Gene Description E1A binding protein p400 [Source:MGI Symbol;Acc:MGI:1276124]
MGI phenotype Mice homozygous for a knock-out allele die at E11.5 and display severe defects in yolk sac erythropoiesis, anemia, and a slight deformity of the neural tube.
Uniprot Name
CCDS Name
Gene GO
histone H4 acetylation; helicase activity; chromatin binding; NuA4 histone acetyltransferase complex; histone H2A acetylation; DNA binding; protein binding; nuclear speck; nucleic acid binding; ATP binding
Homolog in other species EP400
Omim http://omim.org/entry/606265
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029505
Chromosome 5
Coordinate 110,701,728     (Assembly: GRCm38)    
Ref Base G
Codon Change aCa/aTa
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
G:R0.54
A:V0.46
Amino Acid Position 145
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02382
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved