Incidental Mutation 'R3113:Atg4b'
ID 263856
Institutional Source Beutler Lab
Gene Symbol Atg4b
Ensembl Gene ENSMUSG00000026280
Gene Name autophagy related 4B, cysteine peptidase
Synonyms 2510009N07Rik, autophagin 1, Apg4b
MMRRC Submission 040586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3113 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93682627-93717328 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 93703426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000149436] [ENSMUST00000185482] [ENSMUST00000187824]
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: ENSMUST00000149436
SMART Domains Protein: ENSMUSP00000123383
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 42 150 6.9e-49 PFAM
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: ENSMUST00000186001
Predicted Effect probably benign
Transcript: ENSMUST00000187824
SMART Domains Protein: ENSMUSP00000139541
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 61 121 1.5e-16 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,372 (GRCm39) Y248* probably null Het
Acta2 T C 19: 34,220,752 (GRCm39) I319V probably benign Het
Alox15 A T 11: 70,235,703 (GRCm39) N585K probably benign Het
Ank T A 15: 27,571,700 (GRCm39) I324N probably damaging Het
Ank1 A G 8: 23,574,813 (GRCm39) N99D probably damaging Het
As3mt T C 19: 46,703,717 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,047,541 (GRCm39) V705D probably damaging Het
Bves T C 10: 45,219,148 (GRCm39) V82A probably benign Het
Cad C A 5: 31,231,481 (GRCm39) H7Q possibly damaging Het
Carmil1 A G 13: 24,253,740 (GRCm39) V387A probably benign Het
Csnk2a1 T A 2: 152,105,134 (GRCm39) F181Y probably damaging Het
Cwc22 A T 2: 77,754,823 (GRCm39) probably benign Het
Ddx18 A G 1: 121,493,877 (GRCm39) S36P possibly damaging Het
Dnai2 T A 11: 114,642,756 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,769,008 (GRCm39) M765K probably benign Het
Fitm2 T C 2: 163,311,511 (GRCm39) Y234C probably damaging Het
Flrt3 T C 2: 140,503,454 (GRCm39) E58G probably benign Het
Foxs1 A G 2: 152,774,156 (GRCm39) V299A probably benign Het
Galnt12 A G 4: 47,108,415 (GRCm39) N184S probably benign Het
Gata6 T C 18: 11,063,124 (GRCm39) L464P probably damaging Het
Gm17332 T C 11: 31,132,384 (GRCm39) T27A possibly damaging Het
Ifna11 A C 4: 88,738,220 (GRCm39) M9L probably benign Het
Ldb3 T A 14: 34,251,418 (GRCm39) *623L probably null Het
Lrrc27 A G 7: 138,798,223 (GRCm39) D106G probably damaging Het
Ly6f A G 15: 75,143,577 (GRCm39) N95D probably benign Het
Lyst A G 13: 13,844,512 (GRCm39) I1901V probably benign Het
Mboat2 A G 12: 24,932,718 (GRCm39) Y70C probably damaging Het
Mmut G A 17: 41,269,247 (GRCm39) G610D probably damaging Het
Mroh1 T A 15: 76,292,736 (GRCm39) probably benign Het
Muc5b A G 7: 141,399,871 (GRCm39) H448R unknown Het
Myh2 A G 11: 67,076,012 (GRCm39) N733S probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nlrp1a A T 11: 71,014,491 (GRCm39) I253N probably damaging Het
Ocrl A G X: 47,022,304 (GRCm39) E258G probably benign Het
Or2w1 T A 13: 21,317,299 (GRCm39) M118K probably damaging Het
Or6c2 A T 10: 129,363,012 (GRCm39) R305S probably benign Het
Pak1 C A 7: 97,515,321 (GRCm39) S115* probably null Het
Pilrb1 C T 5: 137,853,195 (GRCm39) V203I possibly damaging Het
Ppfia2 T A 10: 106,742,256 (GRCm39) Y1016* probably null Het
Prmt3 C A 7: 49,431,760 (GRCm39) P121Q probably damaging Het
Rhox6 T A X: 36,916,507 (GRCm39) I116N possibly damaging Het
Saxo2 A C 7: 82,292,949 (GRCm39) F49L probably benign Het
Scn2a A C 2: 65,579,129 (GRCm39) D1488A possibly damaging Het
Scn5a T A 9: 119,314,738 (GRCm39) D1989V probably damaging Het
Sec31b C A 19: 44,506,624 (GRCm39) E905* probably null Het
Secisbp2l A T 2: 125,592,206 (GRCm39) F672I probably damaging Het
Slc22a23 C T 13: 34,367,058 (GRCm39) G650E probably damaging Het
Smu1 A G 4: 40,748,658 (GRCm39) F211L probably benign Het
Spef1l G T 7: 139,555,878 (GRCm39) probably benign Het
Tab1 C T 15: 80,032,461 (GRCm39) L23F probably benign Het
Thsd7b G A 1: 129,977,599 (GRCm39) C1078Y probably benign Het
Ttn A T 2: 76,644,542 (GRCm39) Y13071N probably damaging Het
Usp17ld A G 7: 102,899,870 (GRCm39) V354A probably benign Het
Usp31 A G 7: 121,278,736 (GRCm39) S210P probably damaging Het
Wdr12 T C 1: 60,126,221 (GRCm39) D198G probably benign Het
Wrap53 A G 11: 69,454,144 (GRCm39) V298A probably benign Het
Xirp2 A G 2: 67,340,491 (GRCm39) I911V probably benign Het
Zcchc2 T C 1: 105,918,752 (GRCm39) M78T unknown 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
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
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'- GCTCCTCTTGGAAGGTTTGC -3'
(R):5'- AGGGCTCTGACCTAAACATGAATC -3'

Sequencing Primer
(F):5'- GCCCAGACCTTTCTATGAAGCG -3'
(R):5'- TGAATCCCAATCACAGAACAATTGG -3'
Posted On 2015-02-05