|Institutional Source||Beutler Lab|
|Gene Name||actinin, alpha 1|
|Is this an essential gene?||Possibly essential (E-score: 0.520)|
|Stock #||R8287 (G1)|
|Chromosomal Location||80167547-80260371 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 80174078 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021554 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021554] [ENSMUST00000167327]|
|Meta Mutation Damage Score||0.9500|
|Coding Region Coverage||
|Validation Efficiency||100% (27/27)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Actn1||
(F):5'- ACTTTGCTCCAATCTGACAAAGGG -3'
(R):5'- TCCCTTGCCACTCGAATGAC -3'
(F):5'- TCTGACAAAGGGAGCAAACTGTC -3'
(R):5'- TTGAGGTATCTGGCCCACC -3'