Incidental Mutation 'IGL03233:Atg4c'
ID413958
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 #IGL03233
Quality Score
Status
Chromosome4
Chromosomal Location99193934-99259787 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99229503 bp
ZygosityHeterozygous
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]
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: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging Het
Other mutations in Atg4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Atg4c APN 4 99218203 splice site probably benign
IGL02969:Atg4c APN 4 99258387 splice site probably benign
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
Posted On2016-08-02