Incidental Mutation 'R2846:Atg4a'
ID 251643
Institutional Source Beutler Lab
Gene Symbol Atg4a
Ensembl Gene ENSMUSG00000079418
Gene Name autophagy related 4A, cysteine peptidase
Synonyms Apg4a, Autl2, autophagin 2
MMRRC Submission 040439-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R2846 (G1)
Quality Score 222
Status Not 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: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdnf T A 2: 3,514,165 (GRCm39) M1K probably null Het
Ddx4 T A 13: 112,741,146 (GRCm39) K496M probably damaging Het
Dlg1 T C 16: 31,682,015 (GRCm39) S779P probably damaging Het
Dtna T A 18: 23,784,560 (GRCm39) probably null Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Gal3st2c A T 1: 93,924,122 (GRCm39) Q8L possibly damaging Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Irs4 C A X: 140,507,336 (GRCm39) G287W probably damaging Het
Kif21a T C 15: 90,818,667 (GRCm39) I1570V probably benign Het
Kremen1 GG GGGCG 11: 5,151,793 (GRCm39) probably benign Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mindy4 T C 6: 55,255,085 (GRCm39) V521A probably damaging Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pdgfrb C T 18: 61,197,088 (GRCm39) P175S probably benign Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Qpct A G 17: 79,378,171 (GRCm39) T114A probably damaging Het
Sec24d A G 3: 123,144,395 (GRCm39) D624G probably damaging Het
Shank2 A G 7: 143,623,792 (GRCm39) Y259C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcb1 C A 10: 75,733,375 (GRCm39) R332L probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
St18 T A 1: 6,915,811 (GRCm39) C819S probably damaging Het
Tas2r124 A G 6: 132,732,230 (GRCm39) N180D possibly damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Tmem204 G A 17: 25,299,307 (GRCm39) H71Y probably benign Het
Vmn1r212 A G 13: 23,068,262 (GRCm39) S24P probably damaging Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zmiz1 A G 14: 25,646,099 (GRCm39) S259G probably benign 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
R2844:Atg4a UTSW X 139,893,589 (GRCm39) missense probably benign
R2845: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'- GGTCCAAACCATTCGCCAATTG -3'

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