Incidental Mutation 'IGL03233:Atg4c'
ID 413958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg4c
Ensembl Gene ENSMUSG00000028550
Gene Name autophagy related 4C, cysteine peptidase
Synonyms Apg4c, Apg4-C, autophagin 3, Autl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL03233
Quality Score
Status
Chromosome 4
Chromosomal Location 99082171-99148024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99117740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 343 (Y343F)
Ref Sequence ENSEMBL: ENSMUSP00000137035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030279] [ENSMUST00000180278]
AlphaFold Q811C2
Predicted Effect probably benign
Transcript: ENSMUST00000030279
AA Change: Y343F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: Y343F

DomainStartEndE-ValueType
Pfam:Peptidase_C54 76 400 7.4e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180278
AA Change: Y343F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: Y343F

DomainStartEndE-ValueType
Pfam:Peptidase_C54 73 402 1.4e-119 PFAM
Coding Region Coverage
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. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a higher incidence of chemically-induced fibrosarcomas, and exhibit both a significant reduction of autophagic activity in the diaphragm muscle as well as decreased locomotor activity after prolonged starvation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Ano5 C A 7: 51,220,116 (GRCm39) P405T probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Ces1d A G 8: 93,921,707 (GRCm39) Y19H probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dgkk T C X: 6,770,077 (GRCm39) L352P probably damaging Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Esco1 A G 18: 10,574,877 (GRCm39) W208R probably damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Foxp3 T C X: 7,453,662 (GRCm39) probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Tshz3 T A 7: 36,469,504 (GRCm39) Y498N probably damaging Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R possibly damaging Het
Other mutations in Atg4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Atg4c APN 4 99,106,440 (GRCm39) splice site probably benign
IGL02969:Atg4c APN 4 99,146,624 (GRCm39) splice site probably benign
R0083:Atg4c UTSW 4 99,109,677 (GRCm39) missense possibly damaging 0.74
R0108:Atg4c UTSW 4 99,109,677 (GRCm39) missense possibly damaging 0.74
R0485:Atg4c UTSW 4 99,112,719 (GRCm39) missense probably benign 0.13
R1488:Atg4c UTSW 4 99,109,479 (GRCm39) missense probably damaging 1.00
R1983:Atg4c UTSW 4 99,116,812 (GRCm39) missense probably damaging 1.00
R2036:Atg4c UTSW 4 99,106,376 (GRCm39) missense possibly damaging 0.89
R2146:Atg4c UTSW 4 99,109,463 (GRCm39) missense possibly damaging 0.89
R2148:Atg4c UTSW 4 99,109,463 (GRCm39) missense possibly damaging 0.89
R2150:Atg4c UTSW 4 99,109,463 (GRCm39) missense possibly damaging 0.89
R5715:Atg4c UTSW 4 99,146,639 (GRCm39) missense probably damaging 1.00
R5854:Atg4c UTSW 4 99,116,796 (GRCm39) missense probably benign
R6157:Atg4c UTSW 4 99,123,400 (GRCm39) nonsense probably null
R7431:Atg4c UTSW 4 99,109,632 (GRCm39) missense possibly damaging 0.93
R7570:Atg4c UTSW 4 99,116,797 (GRCm39) missense possibly damaging 0.76
Posted On 2016-08-02