|Institutional Source||Beutler Lab|
|Gene Name||ARP1 actin-related protein 1A, centractin alpha|
|Is this an essential gene?||Probably essential (E-score: 0.959)|
|Stock #||R1953 (G1)|
|Chromosomal Location||46376814-46395735 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 46380948 bp|
|Amino Acid Change||Serine to Phenylalanine at position 209 (S209F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039844 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040270]|
|Predicted Effect||probably benign
AA Change: S209F
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: S209F
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Actr1a||
(F):5'- ACGAGATGGCAGCATTCAAG -3'
(R):5'- ATTTCTCTCCAGAGGCTGTGG -3'
(F):5'- TGGCAGCATTCAAGAAGGTG -3'
(R):5'- TTGCCTCAGTTATGCCACGGG -3'