|Institutional Source||Beutler Lab|
|Gene Name||actin-like 6A|
|Synonyms||2810432C06Rik, Baf53a, ARP4, Actl6|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0194 (G1)|
|Chromosomal Location||32706298-32726973 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32725320 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 399 (I399N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029214 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000043966]|
AA Change: I399N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I399N
|Meta Mutation Damage Score||0.9555|
|Coding Region Coverage||
|Validation Efficiency||91% (439/482)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E6.5. Mice homozygous for a conditional allele activated in hematopoietic cells exhibit bone marrow failure and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Actl6a||
(F):5'- GACCTTTCCTGAAAAGTAGCCTAGCC -3'
(R):5'- TTCCAGAAAACCCAGAGTGGTGTTC -3'
(F):5'- tctgcctgtctctgtatccc -3'
(R):5'- AGAGTTACTTGTAGTACCAAGACAG -3'