Incidental Mutation 'R2845:Atg4a'
ID 251559
Institutional Source Beutler Lab
Gene Symbol Atg4a
Ensembl Gene ENSMUSG00000079418
Gene Name autophagy related 4A, cysteine peptidase
Synonyms Apg4a, Autl2, autophagin 2
MMRRC Submission 040438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R2845 (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: 95.3%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 C T 6: 87,436,949 (GRCm39) E634K possibly damaging Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cep152 A G 2: 125,429,894 (GRCm39) I676T probably damaging Het
Cherp C A 8: 73,220,247 (GRCm39) A449S probably damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Cplane1 G A 15: 8,245,864 (GRCm39) R1412H probably damaging Het
Csnk1g2 A G 10: 80,474,438 (GRCm39) S220G probably damaging Het
Efcab7 T A 4: 99,766,835 (GRCm39) V20D probably damaging Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Frem3 T C 8: 81,339,849 (GRCm39) F714S probably damaging Het
Gpx6 A T 13: 21,503,045 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mrgpra2a T A 7: 47,076,878 (GRCm39) M127L probably benign Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging 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
Plekhh3 T C 11: 101,061,056 (GRCm39) probably benign Het
Pramel22 G A 4: 143,380,868 (GRCm39) S385F probably damaging Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Ptpru T A 4: 131,546,972 (GRCm39) I168F probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Skint10 T C 4: 112,573,023 (GRCm39) S258G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tas2r138 T C 6: 40,589,701 (GRCm39) S182G probably benign Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp24 G T 18: 24,150,885 (GRCm39) T87K probably damaging Het
Zfp407 G T 18: 84,576,522 (GRCm39) C1530* 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
R2844: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