Incidental Mutation 'IGL00517:Atg4a'
ID332544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg4a
Ensembl Gene ENSMUSG00000079418
Gene Nameautophagy related 4A, cysteine peptidase
Synonymsautophagin 2, Autl2, Apg4a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #IGL00517
Quality Score
Status
ChromosomeX
Chromosomal Location140956907-141164270 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141162492 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 345 (M345K)
Ref Sequence ENSEMBL: ENSMUSP00000108595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101205] [ENSMUST00000112971]
Predicted Effect probably benign
Transcript: ENSMUST00000101205
SMART Domains Protein: ENSMUSP00000098765
Gene: ENSMUSG00000031273

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Collagen 45 106 2e-10 PFAM
Pfam:Collagen 101 162 7.5e-11 PFAM
Pfam:Collagen 165 222 2.1e-10 PFAM
low complexity region 251 277 N/A INTRINSIC
Pfam:Collagen 282 346 1.8e-11 PFAM
Pfam:Collagen 355 416 1.1e-10 PFAM
low complexity region 421 442 N/A INTRINSIC
Pfam:Collagen 487 551 4e-11 PFAM
Pfam:Collagen 593 654 1.4e-8 PFAM
low complexity region 660 680 N/A INTRINSIC
Pfam:Collagen 707 757 5e-9 PFAM
Pfam:Collagen 755 818 1.8e-10 PFAM
low complexity region 867 885 N/A INTRINSIC
Pfam:Collagen 894 959 1.4e-10 PFAM
low complexity region 990 1002 N/A INTRINSIC
Pfam:Collagen 1010 1075 5.1e-11 PFAM
Pfam:Collagen 1075 1138 3e-10 PFAM
Pfam:Collagen 1132 1192 2e-11 PFAM
Pfam:Collagen 1193 1252 7e-11 PFAM
Pfam:Collagen 1255 1316 3.1e-10 PFAM
Pfam:Collagen 1310 1370 4.8e-11 PFAM
Pfam:Collagen 1375 1433 2.3e-10 PFAM
C4 1467 1574 3.11e-62 SMART
C4 1575 1690 8.66e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112971
AA Change: M345K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108595
Gene: ENSMUSG00000079418
AA Change: M345K

DomainStartEndE-ValueType
Pfam:Peptidase_C54 42 333 5.7e-102 PFAM
low complexity region 381 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147972
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. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C T 7: 101,388,049 R180W probably damaging Het
BC037034 A G 5: 138,261,705 V363A possibly damaging Het
Cacna1s T C 1: 136,087,339 V408A probably damaging Het
Ccdc141 C T 2: 77,054,644 G551D probably damaging Het
Cdh2 A C 18: 16,627,636 V558G possibly damaging Het
Col9a1 T A 1: 24,195,534 probably benign Het
Fbxo15 T A 18: 84,959,100 F46I probably damaging Het
Gdpd4 T C 7: 98,004,271 I497T probably damaging Het
Gtf2f2 A G 14: 75,995,501 V75A probably benign Het
Hpse T C 5: 100,691,330 H384R possibly damaging Het
Lama2 T A 10: 27,197,330 T1044S probably benign Het
Lamp2 T C X: 38,456,309 probably benign Het
Lipe C A 7: 25,388,560 probably null Het
Marf1 T C 16: 14,115,742 E1594G possibly damaging Het
Mettl24 T C 10: 40,810,500 V291A probably benign Het
Patj G T 4: 98,441,071 V521F possibly damaging Het
Prkg1 A T 19: 30,894,668 D242E probably benign Het
Qsox2 T C 2: 26,222,255 I92V probably benign Het
Rasgrf1 T C 9: 89,970,481 Y367H probably damaging Het
Rpl21-ps4 T C 14: 11,227,544 noncoding transcript Het
Sigirr T C 7: 141,092,234 E266G probably benign Het
Slitrk6 T C 14: 110,751,115 T387A probably benign Het
Smim22 T C 16: 5,007,996 L54P probably damaging Het
Taf4 G A 2: 179,924,413 probably benign Het
Zswim3 T C 2: 164,821,091 L497S probably damaging Het
Other mutations in Atg4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2256:Atg4a UTSW X 140990235 missense probably benign 0.00
R2257:Atg4a UTSW X 140990235 missense probably benign 0.00
R2844:Atg4a UTSW X 140992840 missense probably benign
R2845:Atg4a UTSW X 140992840 missense probably benign
R2846:Atg4a UTSW X 140992840 missense probably benign
R2921:Atg4a UTSW X 141158772 missense possibly damaging 0.67
Posted On2015-08-05