|Institutional Source||Beutler Lab|
|Gene Name||actin-like 7a|
|Synonyms||Tact2, t-actin 2|
|Essential gene?||Possibly non essential (E-score: 0.464)|
|Stock #||R5903 (G1)|
|Chromosomal Location||56743413-56744925 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 56743827 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 118 (R118L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000092692 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095079] [ENSMUST00000095080] [ENSMUST00000181745]|
AA Change: R118L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R118L
|Meta Mutation Damage Score||0.1408|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family 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 (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Actl7a||
(F):5'- TCAACTATGTCCAAGGATAGGC -3'
(R):5'- GTCTCAAACAGCATCTCGGC -3'
(F):5'- CTATGTCCAAGGATAGGCCAAGAC -3'
(R):5'- AACAGCATCTCGGCGTACTTC -3'