|Institutional Source||Beutler Lab|
|Gene Name||autophagy related 4D, cysteine peptidase|
|Synonyms||9830134P12Rik, APG4-D, Apg4d, Autl4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6563 (G1)|
|Chromosomal Location||21265293-21277772 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 21268460 bp (GRCm38)|
|Amino Acid Change||Leucine to Phenylalanine at position 235 (L235F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068450 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038671] [ENSMUST00000065005]|
AA Change: L235F
PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: L235F
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
|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 belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atg4d||
(F):5'- GCCACAGTTTAGCTCTCAGTG -3'
(R):5'- TTCTGAGCAACTCTCCACAGC -3'
(F):5'- TGGCTTCCTCTGAGATGCCAG -3'
(R):5'- GAGCAACTCTCCACAGCTTTCC -3'