Incidental Mutation 'IGL01559:Atg4c'
ID90807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg4c
Ensembl Gene ENSMUSG00000028550
Gene Nameautophagy related 4C, cysteine peptidase
SynonymsApg4-C, autophagin 3, Apg4c, Autl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01559
Quality Score
Status
Chromosome4
Chromosomal Location99193934-99259787 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 99218203 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030279] [ENSMUST00000180278]
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: 9,309,020 N2915K possibly damaging Het
Abca5 T C 11: 110,272,526 N1621S probably benign Het
Asb18 G A 1: 89,954,450 S122F probably damaging Het
Bbs7 T C 3: 36,594,510 Y363C probably damaging Het
Celsr2 T C 3: 108,406,867 T1281A possibly damaging Het
Cers1 A G 8: 70,323,233 N295S probably damaging Het
Csn1s2b A T 5: 87,820,951 K80* probably null Het
Dennd6a A G 14: 26,608,565 D97G probably damaging Het
Dmxl1 A G 18: 49,920,938 Y2537C probably damaging Het
Dnah6 A G 6: 73,024,252 probably null Het
Exoc4 A G 6: 33,266,076 T75A probably damaging Het
Fbll1 T C 11: 35,797,545 E297G probably damaging Het
Gm10642 T A 9: 70,656,592 D152V probably damaging Het
Hdac3 A G 18: 37,943,672 probably benign Het
Kif17 A G 4: 138,293,769 I850V probably damaging Het
Olfr166 T C 16: 19,487,459 L207P probably benign Het
Pi4kb T A 3: 94,984,129 L52Q probably benign Het
Sec14l1 C A 11: 117,143,284 probably null Het
Slc28a2 T A 2: 122,454,540 H336Q probably damaging Het
Usp17lb A G 7: 104,841,229 S164P probably damaging Het
Other mutations in Atg4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:Atg4c APN 4 99258387 splice site probably benign
IGL03233:Atg4c APN 4 99229503 missense probably benign 0.06
R0083:Atg4c UTSW 4 99221440 missense possibly damaging 0.74
R0108:Atg4c UTSW 4 99221440 missense possibly damaging 0.74
R0485:Atg4c UTSW 4 99224482 missense probably benign 0.13
R1488:Atg4c UTSW 4 99221242 missense probably damaging 1.00
R1983:Atg4c UTSW 4 99228575 missense probably damaging 1.00
R2036:Atg4c UTSW 4 99218139 missense possibly damaging 0.89
R2146:Atg4c UTSW 4 99221226 missense possibly damaging 0.89
R2148:Atg4c UTSW 4 99221226 missense possibly damaging 0.89
R2150:Atg4c UTSW 4 99221226 missense possibly damaging 0.89
R5715:Atg4c UTSW 4 99258402 missense probably damaging 1.00
R5854:Atg4c UTSW 4 99228559 missense probably benign
R6157:Atg4c UTSW 4 99235163 nonsense probably null
R7431:Atg4c UTSW 4 99221395 missense possibly damaging 0.93
R7570:Atg4c UTSW 4 99228560 missense possibly damaging 0.76
Posted On2013-12-09