Incidental Mutation 'R1488:Atg4c'
ID 165489
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 039540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1488 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 99082171-99148024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99109479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 149 (W149R)
Ref Sequence ENSEMBL: ENSMUSP00000137035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030279] [ENSMUST00000180278]
AlphaFold Q811C2
Predicted Effect probably damaging
Transcript: ENSMUST00000030279
AA Change: W149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: W149R

DomainStartEndE-ValueType
Pfam:Peptidase_C54 76 400 7.4e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152121
Predicted Effect probably damaging
Transcript: ENSMUST00000180278
AA Change: W149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: W149R

DomainStartEndE-ValueType
Pfam:Peptidase_C54 73 402 1.4e-119 PFAM
Meta Mutation Damage Score 0.2576 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A G 6: 48,910,381 (GRCm39) N691S possibly damaging Het
Arhgap23 A G 11: 97,391,685 (GRCm39) S1401G possibly damaging Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atxn1l A G 8: 110,460,049 (GRCm39) I71T probably benign Het
Axdnd1 T A 1: 156,176,530 (GRCm39) L748F probably damaging Het
Bdh2 A G 3: 135,002,602 (GRCm39) Y157C probably damaging Het
C2cd4a G T 9: 67,738,990 (GRCm39) R18S probably benign Het
Catsperb A G 12: 101,560,526 (GRCm39) H839R probably damaging Het
Ccdc24 C A 4: 117,727,765 (GRCm39) S134I possibly damaging Het
Cd55 G T 1: 130,376,115 (GRCm39) T70K probably damaging Het
Cdh10 A T 15: 19,013,349 (GRCm39) I650F probably damaging Het
Clca3a2 T A 3: 144,789,925 (GRCm39) K470N possibly damaging Het
Csn2 G A 5: 87,842,755 (GRCm39) Q91* probably null Het
Ctsh G A 9: 89,953,944 (GRCm39) D218N possibly damaging Het
Cyb5r4 C G 9: 86,911,591 (GRCm39) Y88* probably null Het
Dgkq A G 5: 108,798,743 (GRCm39) F601S probably damaging Het
Eci2 A G 13: 35,161,916 (GRCm39) V352A probably benign Het
Krt28 T C 11: 99,255,997 (GRCm39) T421A probably benign Het
Lamp5 T C 2: 135,911,011 (GRCm39) V248A probably benign Het
Lin9 T A 1: 180,515,850 (GRCm39) L483Q possibly damaging Het
Lrp1b C A 2: 41,392,036 (GRCm39) M509I probably benign Het
Lrrfip1 T C 1: 91,042,354 (GRCm39) V253A probably damaging Het
Mpdz C A 4: 81,266,945 (GRCm39) E981* probably null Het
Mpo A C 11: 87,688,256 (GRCm39) N305T probably damaging Het
Or2y1 A G 11: 49,385,945 (GRCm39) E195G probably benign Het
Or51a24 T C 7: 103,733,859 (GRCm39) I143V probably benign Het
Or5p79 A T 7: 108,221,696 (GRCm39) I226F probably damaging Het
Papss2 T C 19: 32,614,490 (GRCm39) S69P probably benign Het
Pcdhb22 A G 18: 37,652,941 (GRCm39) T470A possibly damaging Het
Plce1 A G 19: 38,705,247 (GRCm39) D884G possibly damaging Het
Prex2 T A 1: 11,263,752 (GRCm39) I1239K probably benign Het
Prkd2 T A 7: 16,592,364 (GRCm39) F625I probably damaging Het
Rab20 A T 8: 11,504,268 (GRCm39) V144E probably benign Het
Rnf213 A G 11: 119,371,715 (GRCm39) N4840S probably benign Het
Scaf8 T G 17: 3,247,872 (GRCm39) M1065R probably damaging Het
Slco3a1 A G 7: 73,996,449 (GRCm39) L319P possibly damaging Het
Slit1 A G 19: 41,596,824 (GRCm39) C1092R probably damaging Het
Tlr4 A G 4: 66,757,786 (GRCm39) D193G probably damaging Het
Tmem145 T A 7: 25,006,860 (GRCm39) probably null Het
Tmem184a T A 5: 139,793,395 (GRCm39) K235N probably benign Het
Tnpo1 A T 13: 98,993,415 (GRCm39) D590E probably damaging Het
Trio C A 15: 27,741,053 (GRCm39) G2724V probably damaging Het
Ttc6 A T 12: 57,696,301 (GRCm39) Y34F possibly damaging Het
Tuba4a T C 1: 75,193,045 (GRCm39) T190A probably benign Het
Tubgcp4 T G 2: 121,007,031 (GRCm39) V136G possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r74 T C 7: 11,581,510 (GRCm39) I270T probably benign Het
Vmn2r103 A T 17: 20,013,922 (GRCm39) E238V probably damaging Het
Vmn2r60 T A 7: 41,786,137 (GRCm39) F313L probably benign Het
Zfp710 T C 7: 79,731,752 (GRCm39) Y310H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CAATAACCTGTTTGGCCTTAAGTGCTG -3'
(R):5'- CTTAAAATGTGAGCAACCACCGCTG -3'

Sequencing Primer
(F):5'- GTCAAGGTCTGTCTGTTGGA -3'
(R):5'- GCTGGTCCATACCAATCGC -3'
Posted On 2014-03-28