Arid1b - SNV Details



 Human Rare Diseases 
6q25 microdeletion syndrome
Coffin-Siris syndrome

 Gene Information 
Gene Name Arid1b
Old Gene Names for Arid1b 9330189k18rik
Gene Description AT rich interactive domain 1B (SWI-like) [Source:MGI Symbol;Acc:MGI:1926129]
Uniprot Name
CCDS Name
Gene GO
intracellular; SWI/SNF complex; DNA binding; intracellular membrane-bounded organelle; protein binding; binding; nucleus; biological_process; molecular_function
Homolog in other species ARID1B
Omim http://omim.org/entry/614556
Immgen Expression
HIGH
Gnf Expression
MEDIAN
HIGH
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000069729
Chromosome 17
Coordinate 5,291,235     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.45
G:V0.55
Amino Acid Position 886
Amino Acid Change E->G (Glutamic acid -> Glycine)
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 Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.14
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved