Incidental Mutation 'IGL01559:Atg4c'
ID 90807
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 # IGL01559
Quality Score
Status
Chromosome 4
Chromosomal Location 99082171-99148024 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 99106440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030279] [ENSMUST00000180278]
AlphaFold Q811C2
Predicted Effect probably benign
Transcript: ENSMUST00000030279
SMART Domains Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550

DomainStartEndE-ValueType
Pfam:Peptidase_C54 76 400 7.4e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152121
Predicted Effect probably benign
Transcript: ENSMUST00000180278
SMART Domains Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,259,020 (GRCm39) N2915K possibly damaging Het
Abca5 T C 11: 110,163,352 (GRCm39) N1621S probably benign Het
Asb18 G A 1: 89,882,172 (GRCm39) S122F probably damaging Het
Bbs7 T C 3: 36,648,659 (GRCm39) Y363C probably damaging Het
Celsr2 T C 3: 108,314,183 (GRCm39) T1281A possibly damaging Het
Cers1 A G 8: 70,775,883 (GRCm39) N295S probably damaging Het
Csn1s2b A T 5: 87,968,810 (GRCm39) K80* probably null Het
Dennd6a A G 14: 26,329,720 (GRCm39) D97G probably damaging Het
Dmxl1 A G 18: 50,054,005 (GRCm39) Y2537C probably damaging Het
Dnah6 A G 6: 73,001,235 (GRCm39) probably null Het
Exoc4 A G 6: 33,243,011 (GRCm39) T75A probably damaging Het
Fbll1 T C 11: 35,688,372 (GRCm39) E297G probably damaging Het
Gm10642 T A 9: 70,563,874 (GRCm39) D152V probably damaging Het
Hdac3 A G 18: 38,076,725 (GRCm39) probably benign Het
Kif17 A G 4: 138,021,080 (GRCm39) I850V probably damaging Het
Or2l13 T C 16: 19,306,209 (GRCm39) L207P probably benign Het
Pi4kb T A 3: 94,891,440 (GRCm39) L52Q probably benign Het
Sec14l1 C A 11: 117,034,110 (GRCm39) probably null Het
Slc28a2 T A 2: 122,285,021 (GRCm39) H336Q probably damaging Het
Usp17lb A G 7: 104,490,436 (GRCm39) S164P probably damaging Het
Other mutations in Atg4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:Atg4c APN 4 99,146,624 (GRCm39) splice site probably benign
IGL03233:Atg4c APN 4 99,117,740 (GRCm39) missense probably benign 0.06
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 2013-12-09