|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: 0.226)|
|Stock #||R2844 (G1)|
|Chromosomal Location||140956907-141164270 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 140992840 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 106 (E106K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108595 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112971]|
|Predicted Effect||probably benign
AA Change: E106K
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: E106K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.078|
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
|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'- GAACACCTTGCCATTCCTGC -3'
(R):5'- TCCAAACCATTCGCCAATTG -3'
(F):5'- GCCATTCCTGCCTTTTGGATGTAG -3'
(R):5'- AAACCATTCGCCAATTGATTTCC -3'