Incidental Mutation 'R0050:Atg4b'
ID 64253
Institutional Source Beutler Lab
Gene Symbol Atg4b
Ensembl Gene ENSMUSG00000026280
Gene Name autophagy related 4B, cysteine peptidase
Synonyms 2510009N07Rik, autophagin 1, Apg4b
MMRRC Submission 038344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R0050 (G1)
Quality Score 164
Status Validated
Chromosome 1
Chromosomal Location 93682627-93717328 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 93715440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000027503] [ENSMUST00000185482] [ENSMUST00000186811]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000027502
AA Change: F381I
SMART Domains Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280
AA Change: F381I

DomainStartEndE-ValueType
Pfam:Peptidase_C54 39 335 4.4e-104 PFAM
low complexity region 375 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000027503
SMART Domains Protein: ENSMUSP00000027503
Gene: ENSMUSG00000026281

DomainStartEndE-ValueType
Pfam:Thymidylate_kin 11 191 6.7e-52 PFAM
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 noncoding transcript
Transcript: ENSMUST00000189872
Predicted Effect probably benign
Transcript: ENSMUST00000186811
SMART Domains Protein: ENSMUSP00000139463
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 2 52 6.5e-11 PFAM
Meta Mutation Damage Score 0.1282 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (54/55)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,036,417 (GRCm39) C564Y probably damaging Het
Adamts2 T C 11: 50,666,222 (GRCm39) V406A probably damaging Het
Ankar T A 1: 72,695,323 (GRCm39) E1093D probably damaging Het
Arhgef38 C A 3: 132,837,957 (GRCm39) D75Y probably damaging Het
Cadm2 A G 16: 66,750,154 (GRCm39) probably benign Het
Ces2c T A 8: 105,574,831 (GRCm39) M96K probably benign Het
Dmrt3 C A 19: 25,599,953 (GRCm39) P266H probably damaging Het
Dock9 A G 14: 121,844,637 (GRCm39) V1124A probably benign Het
Edem1 T C 6: 108,805,809 (GRCm39) F37L possibly damaging Het
Ermp1 C A 19: 29,606,184 (GRCm39) A190S probably damaging Het
Gm10267 T A 18: 44,289,520 (GRCm39) probably benign Het
Golga2 T A 2: 32,182,139 (GRCm39) V29D probably damaging Het
Gprc6a T A 10: 51,491,485 (GRCm39) M755L probably damaging Het
H1f8 G T 6: 115,924,729 (GRCm39) K78N probably damaging Het
Lama3 T A 18: 12,537,160 (GRCm39) H268Q probably damaging Het
Lrriq1 A G 10: 102,904,792 (GRCm39) V1614A probably damaging Het
Oaz2 A G 9: 65,595,084 (GRCm39) E61G probably damaging Het
Pear1 G T 3: 87,663,294 (GRCm39) Y441* probably null Het
Pkhd1l1 A T 15: 44,437,203 (GRCm39) T3493S possibly damaging Het
Plekhg5 T C 4: 152,192,545 (GRCm39) probably null Het
Ppp3cb A G 14: 20,581,820 (GRCm39) V65A possibly damaging Het
Rheb A T 5: 25,022,832 (GRCm39) probably benign Het
Ros1 G A 10: 51,977,899 (GRCm39) T1449M probably damaging Het
Septin4 T C 11: 87,458,172 (GRCm39) L182S probably damaging Het
Slc6a12 T C 6: 121,337,378 (GRCm39) probably benign Het
Stx2 A G 5: 129,076,572 (GRCm39) probably null Het
Tnxb T A 17: 34,892,299 (GRCm39) D764E probably damaging Het
Trmt2a A T 16: 18,068,707 (GRCm39) E234D probably damaging Het
Other mutations in Atg4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Atg4b APN 1 93,713,626 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGGAGTCAGGACCTCATTATGCCC -3'
(R):5'- TAGTCCTTGGTCCATGAGCAGAGC -3'

Sequencing Primer
(F):5'- actcctttatcccatttctcctaatc -3'
(R):5'- ATGAGCAGAGCAGGCCC -3'
Posted On 2013-08-06