Incidental Mutation 'IGL01875:Atg4b'
ID178846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg4b
Ensembl Gene ENSMUSG00000026280
Gene Nameautophagy related 4B, cysteine peptidase
Synonyms2510009N07Rik, autophagin 1, Apg4b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL01875
Quality Score
Status
Chromosome1
Chromosomal Location93751500-93790610 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93778310 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 162 (S162G)
Ref Sequence ENSEMBL: ENSMUSP00000027502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000149436] [ENSMUST00000185482] [ENSMUST00000187824]
Predicted Effect probably damaging
Transcript: ENSMUST00000027502
AA Change: S162G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280
AA Change: S162G

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 silent
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,772,856 T287A probably damaging Het
Afm G T 5: 90,548,883 probably benign Het
Ankrd24 A G 10: 81,629,737 probably benign Het
Ankrd53 G T 6: 83,763,049 E62* probably null Het
B530045E10Rik A T 10: 99,422,315 noncoding transcript Het
Ccng1 A G 11: 40,752,356 V88A probably benign Het
Ces1e T A 8: 93,223,896 M86L probably benign Het
Chrne A T 11: 70,618,672 probably null Het
Ctsh T C 9: 90,064,207 S109P probably damaging Het
Eif4g1 A C 16: 20,681,040 I420L probably damaging Het
Ep300 T A 15: 81,640,023 S1351T unknown Het
Fgfr1 A G 8: 25,573,553 M732V possibly damaging Het
Gata5 T G 2: 180,327,345 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm3633 A T 14: 42,639,277 M18K probably damaging Het
Gucy1b2 A G 14: 62,420,146 L211P probably damaging Het
Hemgn T C 4: 46,396,994 N81D possibly damaging Het
Irs2 A T 8: 11,006,221 M737K probably damaging Het
Itgb7 C A 15: 102,217,995 C502F probably damaging Het
Jakmip1 G T 5: 37,120,980 A534S probably damaging Het
Kidins220 A G 12: 25,057,729 H1636R probably benign Het
Kirrel T A 3: 87,095,730 I119F probably damaging Het
Lrba T C 3: 86,310,047 V527A probably damaging Het
Mitf A G 6: 98,017,895 E409G probably benign Het
Mtrr T G 13: 68,572,609 K289T probably damaging Het
Muc2 A T 7: 141,752,740 I739F probably damaging Het
Ncor2 T C 5: 125,065,870 T612A unknown Het
Olfr1126 T A 2: 87,457,310 N48K probably damaging Het
Olfr54 A T 11: 51,027,375 R124S probably damaging Het
Olfr806 T A 10: 129,738,922 probably benign Het
Olfr901 T A 9: 38,430,298 N5K probably damaging Het
P4ha3 T A 7: 100,300,652 C109S probably damaging Het
Prkd3 T C 17: 78,957,206 E660G possibly damaging Het
Rbm4b G A 19: 4,762,191 M209I probably benign Het
Reln T A 5: 21,904,717 T3132S probably benign Het
Selenbp2 T A 3: 94,698,144 D92E possibly damaging Het
Slfn8 G T 11: 83,004,079 Q634K probably benign Het
Sumo3 A T 10: 77,613,998 I57F probably benign Het
Tacr1 A G 6: 82,557,016 Y341C probably benign Het
Tlr4 T A 4: 66,839,489 L173Q probably damaging Het
Tshz3 C T 7: 36,769,960 T458M probably damaging Het
Vmn1r91 T A 7: 20,101,934 C259* probably null Het
Vmn2r16 T C 5: 109,330,411 F11L probably benign Het
Vmn2r28 T A 7: 5,481,303 M633L probably benign Het
Vmn2r35 T C 7: 7,816,773 probably benign Het
Vwc2l G T 1: 70,729,013 A79S probably benign Het
Zfhx2 G A 14: 55,063,915 S2204F unknown Het
Other mutations in Atg4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Atg4b APN 1 93785904 splice site probably benign
IGL02884:Atg4b APN 1 93787715 utr 3 prime probably benign
R0050:Atg4b UTSW 1 93787718 utr 3 prime probably benign
R0050:Atg4b UTSW 1 93787718 utr 3 prime probably benign
R0387:Atg4b UTSW 1 93786556 missense probably benign 0.02
R0533:Atg4b UTSW 1 93784910 splice site probably benign
R2382:Atg4b UTSW 1 93784842 missense probably damaging 1.00
R3113:Atg4b UTSW 1 93775704 splice site probably benign
R3730:Atg4b UTSW 1 93768275 missense probably damaging 0.99
R4303:Atg4b UTSW 1 93768262 missense probably benign 0.02
R4612:Atg4b UTSW 1 93786541 missense probably damaging 1.00
R5027:Atg4b UTSW 1 93786575 missense probably benign 0.00
R5048:Atg4b UTSW 1 93775658 missense possibly damaging 0.75
R5427:Atg4b UTSW 1 93775206 missense probably damaging 1.00
R5735:Atg4b UTSW 1 93773797 missense probably damaging 1.00
R7209:Atg4b UTSW 1 93775233 missense probably damaging 1.00
Posted On2014-05-07