Incidental Mutation 'R3012:Atg10'
ID 257545
Institutional Source Beutler Lab
Gene Symbol Atg10
Ensembl Gene ENSMUSG00000021619
Gene Name autophagy related 10
Synonyms 5330424L23Rik, 5430428K15Rik, APG10, Apg10l, Apg10p
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R3012 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 90935356-91223968 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91154278 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 47 (F47Y)
Ref Sequence ENSEMBL: ENSMUSP00000153331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022119] [ENSMUST00000224449]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022119
AA Change: F47Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022119
Gene: ENSMUSG00000021619
AA Change: F47Y

DomainStartEndE-ValueType
Pfam:Autophagy_act_C 95 162 9.1e-19 PFAM
low complexity region 188 202 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224449
AA Change: F47Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 G T 19: 40,557,691 Y585* probably null Het
Ankrd17 G A 5: 90,230,868 P2563S probably damaging Het
Ccdc39 C T 3: 33,814,668 R798Q probably damaging Het
Cfi A G 3: 129,874,930 D535G probably damaging Het
Dgat1 T A 15: 76,503,393 Q308H possibly damaging Het
Dsp T C 13: 38,193,342 I1701T possibly damaging Het
E330009J07Rik T C 6: 40,435,992 E45G probably benign Het
Egr2 GAA GA 10: 67,539,903 probably null Het
Fes G C 7: 80,387,167 S56R possibly damaging Het
Gria1 G A 11: 57,289,434 V737M probably damaging Het
Gtf2h1 A G 7: 46,803,895 H84R probably damaging Het
Ifi208 A G 1: 173,695,570 probably null Het
Il15 T A 8: 82,344,420 N22I probably damaging Het
Me1 A G 9: 86,611,912 S323P probably benign Het
Olfr713 T C 7: 107,036,362 F69S possibly damaging Het
Parp4 T C 14: 56,595,416 probably null Het
Pcdhga7 A G 18: 37,715,638 T233A probably benign Het
Rab36 G A 10: 75,044,496 V63I probably damaging Het
Rpe65 G T 3: 159,604,563 V128F possibly damaging Het
Slc5a11 GGTGC G 7: 123,239,372 probably null Het
Tbc1d32 A G 10: 56,173,915 V509A probably benign Het
Tln1 T A 4: 43,542,525 T1428S probably benign Het
Ttc27 A T 17: 74,840,459 I669F probably benign Het
Tubb3 T G 8: 123,421,236 C303G probably damaging Het
Tulp2 G T 7: 45,518,763 V188L probably damaging Het
Zfr T C 15: 12,166,163 Y840H probably damaging Het
Other mutations in Atg10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Atg10 APN 13 91154211 splice site probably benign
IGL03131:Atg10 APN 13 90937293 missense probably null 0.99
R0362:Atg10 UTSW 13 91040990 critical splice acceptor site probably null
R0826:Atg10 UTSW 13 90936586 critical splice donor site probably null
R1593:Atg10 UTSW 13 91154261 missense probably benign 0.02
R2918:Atg10 UTSW 13 91040908 missense probably damaging 1.00
R3036:Atg10 UTSW 13 91040898 missense probably damaging 1.00
R3837:Atg10 UTSW 13 90937380 missense probably damaging 1.00
R3838:Atg10 UTSW 13 90937380 missense probably damaging 1.00
R3839:Atg10 UTSW 13 90937380 missense probably damaging 1.00
R4324:Atg10 UTSW 13 91040966 missense probably damaging 1.00
R6195:Atg10 UTSW 13 91208436 splice site probably null
R6478:Atg10 UTSW 13 90937347 missense probably damaging 1.00
R8287:Atg10 UTSW 13 91022680 splice site probably benign
R9036:Atg10 UTSW 13 91040952 missense probably benign 0.07
R9151:Atg10 UTSW 13 91040913 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCTCACATACCTACTGCC -3'
(R):5'- TACACAGTGTACATTGGGTTAGTCTG -3'

Sequencing Primer
(F):5'- TGCCAACAGTGCCAGGATC -3'
(R):5'- GGTTAGTCTGGTCATCCATAGTATC -3'
Posted On 2015-01-11