Arid1a - SNV Details



 Human Rare Diseases 
Coffin-Siris syndrome

 Gene Information 
Gene Name Arid1a
Old Gene Names for Arid1a Smarcf1 , 1110030e03rik
Gene Description AT rich interactive domain 1A (SWI-like) [Source:MGI Symbol;Acc:MGI:1935147]
MGI phenotype Embryos with homozygous null alleles arrest development at E6.5 with failure to form a mesoderm layer. Mice homozygous for an allele lacking exon 2 and 3 die shortly after birth and exhibit an increase in the hematopoietic stem cell population of the fetal liver at E14.5.
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; nervous system development; androgen receptor signaling pathway; intracellular; SWI/SNF complex; DNA binding; protein binding; binding; positive regulation of transcription
DNA-dependent; chromatin modification; intracellular estrogen receptor signaling pathway; npBAF complex; ligand-dependent nuclear receptor binding; chromatin organization; glucocorticoid receptor signaling pathway; nuclear chromatin; nucleosome disassembly; nBAF complex; chromatin remodeling
Homolog in other species ARID1A
Omim http://omim.org/entry/603024
Immgen Expression
HIGH
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000007880
Chromosome 4
Coordinate 133,681,274     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 60
Allele Frequency
T:R0.62
C:V0.38
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02478
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved