|Institutional Source||Beutler Lab|
|Gene Name||autophagy related 4A, cysteine peptidase|
|Synonyms||autophagin 2, Autl2, Apg4a|
|Is this an essential gene?||Probably non essential (E-score: 0.194)|
|Stock #||R2257 (G1)|
|Chromosomal Location||140956907-141164270 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 140990235 bp|
|Amino Acid Change||Isoleucine to Valine at position 91 (I91V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108595 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112971]|
|Predicted Effect||probably benign
AA Change: I91V
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: I91V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4429|
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atg4a||
(F):5'- GCTGTAGAACCTGTTTCCACTG -3'
(R):5'- TCCCTCTCATGATGGGCTTG -3'
(F):5'- GTAGAACCTGTTTCCACTGATTCAG -3'
(R):5'- CTCATGATGGGCTTGGTTGGC -3'