|Institutional Source||Beutler Lab|
|Gene Name||AT rich interactive domain 1A (SWI-like)|
|Synonyms||1110030E03Rik, Smarcf1, BAF250a, Osa1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3907 (G1)|
|Chromosomal Location||133679008-133756769 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 133692912 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000122354 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000008024] [ENSMUST00000105897] [ENSMUST00000145664]|
|Coding Region Coverage||
|Validation Efficiency||97% (56/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arid1a||
(F):5'- TCCTTGTATCATTCAGCAAAGGGG -3'
(R):5'- GCTACCCAAATATGAATCAAGGG -3'
(F):5'- TTGTATCATTCAGCAAAGGGGATAAG -3'
(R):5'- ATGATGGGAACTGGACCTCC -3'