Incidental Mutation 'R6157:Atg4c'
ID 489641
Institutional Source Beutler Lab
Gene Symbol Atg4c
Ensembl Gene ENSMUSG00000028550
Gene Name autophagy related 4C, cysteine peptidase
Synonyms Apg4c, Apg4-C, autophagin 3, Autl1
MMRRC Submission 044304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6157 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 99082171-99148024 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 99123400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 396 (R396*)
Ref Sequence ENSEMBL: ENSMUSP00000137035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030279] [ENSMUST00000180278]
AlphaFold Q811C2
Predicted Effect probably null
Transcript: ENSMUST00000030279
AA Change: R396*
SMART Domains Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: R396*

DomainStartEndE-ValueType
Pfam:Peptidase_C54 76 400 7.4e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000180278
AA Change: R396*
SMART Domains Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: R396*

DomainStartEndE-ValueType
Pfam:Peptidase_C54 73 402 1.4e-119 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency 93% (40/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,947,617 (GRCm39) K505E possibly damaging Het
Abcb1b A T 5: 8,874,245 (GRCm39) N390I possibly damaging Het
Apob A T 12: 8,056,077 (GRCm39) M1520L probably benign Het
Atp2a3 G A 11: 72,871,442 (GRCm39) V648M probably damaging Het
Blm T C 7: 80,162,733 (GRCm39) D203G probably benign Het
Csrnp3 A T 2: 65,779,363 (GRCm39) D13V probably damaging Het
Dnajc10 A T 2: 80,147,735 (GRCm39) probably benign Het
Dst A G 1: 34,250,253 (GRCm39) Y1729C probably damaging Het
Dynlt2b G A 16: 32,238,660 (GRCm39) A12T possibly damaging Het
Ecsit T C 9: 21,985,987 (GRCm39) Y213C probably damaging Het
Fer A G 17: 64,385,880 (GRCm39) K654R probably damaging Het
Hdac9 G T 12: 34,439,428 (GRCm39) A383E probably damaging Het
Hltf T A 3: 20,130,660 (GRCm39) S293T probably benign Het
Hydin T A 8: 111,254,648 (GRCm39) D2359E probably benign Het
Inf2 A G 12: 112,571,222 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,504 (GRCm39) N289S possibly damaging Het
Meioc T C 11: 102,559,227 (GRCm39) S50P probably damaging Het
Mocs1 G T 17: 49,761,764 (GRCm39) E619D probably benign Het
Nfatc2 A G 2: 168,361,371 (GRCm39) probably benign Het
Or51i1 T A 7: 103,671,105 (GRCm39) N140I possibly damaging Het
Pag1 A T 3: 9,758,896 (GRCm39) H407Q probably benign Het
Plaat1 A G 16: 29,036,501 (GRCm39) I46M possibly damaging Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pld4 C T 12: 112,734,535 (GRCm39) T432I probably damaging Het
Psd3 T G 8: 68,574,179 (GRCm39) M1L probably benign Het
Rasgrp2 C A 19: 6,452,531 (GRCm39) L35I probably damaging Het
Ripor2 T C 13: 24,885,052 (GRCm39) L390P probably damaging Het
Rpgrip1 A T 14: 52,349,631 (GRCm39) E6D probably benign Het
Ryr3 A T 2: 112,672,244 (GRCm39) L1409Q probably damaging Het
Slc6a5 A G 7: 49,601,250 (GRCm39) T684A probably benign Het
Smpd4 G T 16: 17,458,930 (GRCm39) probably null Het
Snx18 T C 13: 113,753,725 (GRCm39) S403G probably damaging Het
Spsb4 G T 9: 96,878,160 (GRCm39) H54Q probably damaging Het
Ssrp1 A G 2: 84,871,072 (GRCm39) Y236C probably damaging Het
Tenm3 C T 8: 48,751,843 (GRCm39) S982N probably damaging Het
Tet1 A G 10: 62,675,749 (GRCm39) S776P probably damaging Het
Tln1 G A 4: 43,534,744 (GRCm39) P2166S probably benign Het
Ufl1 T A 4: 25,279,350 (GRCm39) Q83L possibly damaging Het
Unc80 A T 1: 66,693,188 (GRCm39) K2458* probably null Het
Ush2a A T 1: 188,460,467 (GRCm39) Y2576F probably benign Het
Xrcc6 C A 15: 81,913,305 (GRCm39) probably null Het
Zbtb48 A G 4: 152,106,064 (GRCm39) F380L probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGGAGGGCTAAAATGCTCCTTAG -3'
(R):5'- GCTCCATCTATCTCAAACACTGG -3'

Sequencing Primer
(F):5'- GGGCTAAAATGCTCCTTAGAAAATG -3'
(R):5'- TGGCTCCCCAGTTAGTAATAGAAAC -3'
Posted On 2017-10-10