Arid4a - SNV Details



 Gene Information 
Gene Name Arid4a
Old Gene Names for Arid4a Rbbp1
Gene Description AT rich interactive domain 4A (RBP1-like) [Source:MGI Symbol;Acc:MGI:2444354]
MGI phenotype Mice homozygous for a knock-out allelle exhibit altered DNA methylation patterns, disrupted hematopoeisis and a portion develop acute myeloid leukemia.
Uniprot Name
CCDS Name
Gene GO
DNA-dependent
DNA binding
chromatin
chromatin assembly or disassembly
chromatin binding
intracellular
negative regulation of transcription
nucleic acid binding
nucleus
transcription repressor activity
transcriptional repressor complex
Homolog in other species ARID4A
Omim http://omim.org/entry/180201
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN PREOPTIC)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048118
Chromosome 12
Coordinate 71,075,718     (Assembly: GRCm38)    
Ref Base C
Codon Change Cct/Tct
Var Base T
Zygosity Heterozygous
Read Depth 24
Allele Frequency
C:0.58
T:0.42
Amino Acid Position 958
Amino Acid Change P->S (Proline -> Serine)
Sample ID IGL00847
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 24 Other Mutations

 Predictions 
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability