Incidental Mutation 'IGL01832:Atg4b'
ID 154826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg4b
Ensembl Gene ENSMUSG00000026280
Gene Name autophagy related 4B, cysteine peptidase
Synonyms 2510009N07Rik, autophagin 1, Apg4b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL01832
Quality Score
Status
Chromosome 1
Chromosomal Location 93682627-93717328 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 93713626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000185482] [ENSMUST00000186811]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027502
SMART Domains Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 39 335 4.4e-104 PFAM
low complexity region 375 393 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135762
Predicted Effect probably benign
Transcript: ENSMUST00000185482
SMART Domains Protein: ENSMUSP00000140758
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 36 137 2.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186124
Predicted Effect probably benign
Transcript: ENSMUST00000186811
SMART Domains Protein: ENSMUSP00000139463
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 2 52 6.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189872
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 different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Atg4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Atg4b APN 1 93,706,032 (GRCm39) missense probably damaging 1.00
IGL02884:Atg4b APN 1 93,715,437 (GRCm39) utr 3 prime probably benign
R0050:Atg4b UTSW 1 93,715,440 (GRCm39) utr 3 prime probably benign
R0050:Atg4b UTSW 1 93,715,440 (GRCm39) utr 3 prime probably benign
R0387:Atg4b UTSW 1 93,714,278 (GRCm39) missense probably benign 0.02
R0533:Atg4b UTSW 1 93,712,632 (GRCm39) splice site probably benign
R2382:Atg4b UTSW 1 93,712,564 (GRCm39) missense probably damaging 1.00
R3113:Atg4b UTSW 1 93,703,426 (GRCm39) splice site probably benign
R3730:Atg4b UTSW 1 93,695,997 (GRCm39) missense probably damaging 0.99
R4303:Atg4b UTSW 1 93,695,984 (GRCm39) missense probably benign 0.02
R4612:Atg4b UTSW 1 93,714,263 (GRCm39) missense probably damaging 1.00
R5027:Atg4b UTSW 1 93,714,297 (GRCm39) missense probably benign 0.00
R5048:Atg4b UTSW 1 93,703,380 (GRCm39) missense possibly damaging 0.75
R5427:Atg4b UTSW 1 93,702,928 (GRCm39) missense probably damaging 1.00
R5735:Atg4b UTSW 1 93,701,519 (GRCm39) missense probably damaging 1.00
R7209:Atg4b UTSW 1 93,702,955 (GRCm39) missense probably damaging 1.00
R8194:Atg4b UTSW 1 93,713,694 (GRCm39) nonsense probably null
R8214:Atg4b UTSW 1 93,712,609 (GRCm39) missense probably damaging 1.00
R8724:Atg4b UTSW 1 93,696,023 (GRCm39) missense probably damaging 0.99
R8949:Atg4b UTSW 1 93,715,479 (GRCm39) makesense probably null
R8987:Atg4b UTSW 1 93,706,081 (GRCm39) missense possibly damaging 0.54
R9357:Atg4b UTSW 1 93,713,648 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04