Atg4c - SNV Details



 Gene Information 
Gene Name Atg4c
Gene Description autophagy related 4C, cysteine peptidase [Source:MGI Symbol;Acc:MGI:2651854]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; protein transport; autophagic vacuole assembly; peptidase activity; cysteine-type endopeptidase activity; autophagy; cysteine-type peptidase activity; extracellular region; proteolysis
Homolog in other species ATG4C
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028550
Chromosome 4
Coordinate 99,229,503     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 72
Allele Frequency
A:R0.67
T:V0.33
Amino Acid Change Y->F (Tyrosine -> Phenylalanine)
Sample ID IGL03233
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved