Incidental Mutation 'R2844:Atg4a'
ID 251485
Institutional Source Beutler Lab
Gene Symbol Atg4a
Ensembl Gene ENSMUSG00000079418
Gene Name autophagy related 4A, cysteine peptidase
Synonyms Apg4a, Autl2, autophagin 2
MMRRC Submission 040437-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R2844 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 139857656-139947266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139893589 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C9S8
Predicted Effect probably benign
Transcript: ENSMUST00000112971
AA Change: E106K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108595
Gene: ENSMUSG00000079418
AA Change: E106K

DomainStartEndE-ValueType
Pfam:Peptidase_C54 42 333 5.7e-102 PFAM
low complexity region 381 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153742
Meta Mutation Damage Score 0.0632 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,843,830 (GRCm39) V175I probably benign Het
Abcb1a A T 5: 8,736,164 (GRCm39) I186F probably benign Het
Afg3l1 T C 8: 124,221,678 (GRCm39) probably benign Het
Ccdc50 A G 16: 27,225,479 (GRCm39) E64G probably damaging Het
Celsr3 G T 9: 108,706,507 (GRCm39) G997W probably damaging Het
Chd8 C T 14: 52,441,952 (GRCm39) E2138K possibly damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Dnaaf11 A G 15: 66,319,525 (GRCm39) probably benign Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Fzr1 G T 10: 81,205,252 (GRCm39) T159K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gna13 T C 11: 109,253,951 (GRCm39) I51T probably damaging Het
Gorab A G 1: 163,224,375 (GRCm39) probably null Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Ints6 A G 14: 62,942,275 (GRCm39) V486A probably damaging Het
Irx2 A G 13: 72,779,709 (GRCm39) K331R probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Med14 A T X: 12,550,235 (GRCm39) H684Q probably benign Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pde5a T C 3: 122,645,357 (GRCm39) L755P probably damaging Het
Pex14 A T 4: 149,047,968 (GRCm39) I203N probably benign Het
Pi4ka T C 16: 17,168,657 (GRCm39) E691G probably damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Pnoc A T 14: 65,642,284 (GRCm39) F160I probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Ppil6 A T 10: 41,377,689 (GRCm39) probably benign Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Psme4 T C 11: 30,795,173 (GRCm39) probably benign Het
Rfx3 T C 19: 27,784,186 (GRCm39) probably benign Het
Rnase11 A G 14: 51,287,227 (GRCm39) L109S probably damaging Het
Rngtt A G 4: 33,368,678 (GRCm39) T404A probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Sema5b A G 16: 35,480,301 (GRCm39) N656S probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Thbs1 C T 2: 117,948,109 (GRCm39) T423I probably benign Het
Ttc17 A T 2: 94,206,419 (GRCm39) Y243* probably null Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp648 A T 1: 154,080,881 (GRCm39) K347* probably null Het
Zfp84 T G 7: 29,474,758 (GRCm39) probably null Het
Other mutations in Atg4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Atg4a APN X 139,945,488 (GRCm39) missense probably damaging 0.99
R2256:Atg4a UTSW X 139,890,984 (GRCm39) missense probably benign 0.00
R2257:Atg4a UTSW X 139,890,984 (GRCm39) missense probably benign 0.00
R2845:Atg4a UTSW X 139,893,589 (GRCm39) missense probably benign
R2846:Atg4a UTSW X 139,893,589 (GRCm39) missense probably benign
R2921:Atg4a UTSW X 139,941,768 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- GAACACCTTGCCATTCCTGC -3'
(R):5'- TCCAAACCATTCGCCAATTG -3'

Sequencing Primer
(F):5'- GCCATTCCTGCCTTTTGGATGTAG -3'
(R):5'- AAACCATTCGCCAATTGATTTCC -3'
Posted On 2014-12-04