Incidental Mutation 'R3837:Atg10'
ID 275712
Institutional Source Beutler Lab
Gene Symbol Atg10
Ensembl Gene ENSMUSG00000021619
Gene Name autophagy related 10
Synonyms APG10, Apg10l, 5430428K15Rik, 5330424L23Rik, Apg10p
MMRRC Submission 040778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R3837 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 91083475-91372087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91085499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 150 (I150K)
Ref Sequence ENSEMBL: ENSMUSP00000022119 (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: I150K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022119
Gene: ENSMUSG00000021619
AA Change: I150K

DomainStartEndE-ValueType
Pfam:Autophagy_act_C 95 162 9.1e-19 PFAM
low complexity region 188 202 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223729
Predicted Effect probably benign
Transcript: ENSMUST00000224449
Meta Mutation Damage Score 0.1966 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
4930474N05Rik G A 14: 35,817,435 (GRCm39) G112S probably benign Het
Adam24 T C 8: 41,133,584 (GRCm39) S351P probably benign Het
Amigo2 T C 15: 97,143,196 (GRCm39) I409V probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Cdc20b T C 13: 113,220,542 (GRCm39) W432R probably damaging Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Col28a1 C T 6: 8,014,601 (GRCm39) V935M possibly damaging Het
Col6a3 T C 1: 90,707,803 (GRCm39) N1948D unknown Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Fn1 A T 1: 71,692,314 (GRCm39) probably null Het
Fryl T C 5: 73,228,608 (GRCm39) T1708A probably benign Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Glra2 C T X: 164,072,612 (GRCm39) V85I probably benign Het
Gm11562 A G 11: 99,511,026 (GRCm39) I58T possibly damaging Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn2 T C 2: 31,303,419 (GRCm39) L3020P probably damaging Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Lamtor1 T C 7: 101,559,315 (GRCm39) probably null Het
Lrrd1 A T 5: 3,900,204 (GRCm39) I170L possibly damaging Het
Magi2 G A 5: 20,420,466 (GRCm39) D301N probably benign Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mmrn1 G A 6: 60,921,831 (GRCm39) S96N probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh3 C A 13: 92,491,366 (GRCm39) G15C probably damaging Het
Myl12b C A 17: 71,281,480 (GRCm39) E120* probably null Het
Myo3a T G 2: 22,455,121 (GRCm39) probably benign Het
Nagk A T 6: 83,778,139 (GRCm39) H245L possibly damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nlrc5 A G 8: 95,237,929 (GRCm39) probably benign Het
Ogfrl1 G A 1: 23,409,041 (GRCm39) T395I probably benign Het
Polr1b T A 2: 128,961,027 (GRCm39) F662Y possibly damaging Het
Rrbp1 T C 2: 143,831,478 (GRCm39) K230E probably damaging Het
Shld2 A G 14: 33,971,142 (GRCm39) V581A probably damaging Het
Skap2 C T 6: 51,886,279 (GRCm39) probably null Het
Skint5 A T 4: 113,797,938 (GRCm39) M215K probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Tdp1 A G 12: 99,860,967 (GRCm39) probably null Het
Tlr3 G A 8: 45,849,976 (GRCm39) L898F probably damaging Het
Tmem210 A G 2: 25,178,444 (GRCm39) E35G possibly damaging Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn1r33 A T 6: 66,588,701 (GRCm39) D284E possibly damaging Het
Wnk1 T C 6: 119,927,004 (GRCm39) E1265G probably damaging Het
Yme1l1 A T 2: 23,081,092 (GRCm39) T455S possibly damaging Het
Zfp111 T C 7: 23,898,891 (GRCm39) N241S possibly damaging Het
Other mutations in Atg10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Atg10 APN 13 91,302,330 (GRCm39) splice site probably benign
IGL03131:Atg10 APN 13 91,085,412 (GRCm39) missense probably null 0.99
R0362:Atg10 UTSW 13 91,189,109 (GRCm39) critical splice acceptor site probably null
R0826:Atg10 UTSW 13 91,084,705 (GRCm39) critical splice donor site probably null
R1593:Atg10 UTSW 13 91,302,380 (GRCm39) missense probably benign 0.02
R2918:Atg10 UTSW 13 91,189,027 (GRCm39) missense probably damaging 1.00
R3012:Atg10 UTSW 13 91,302,397 (GRCm39) missense probably damaging 0.99
R3036:Atg10 UTSW 13 91,189,017 (GRCm39) missense probably damaging 1.00
R3838:Atg10 UTSW 13 91,085,499 (GRCm39) missense probably damaging 1.00
R3839:Atg10 UTSW 13 91,085,499 (GRCm39) missense probably damaging 1.00
R4324:Atg10 UTSW 13 91,189,085 (GRCm39) missense probably damaging 1.00
R6195:Atg10 UTSW 13 91,356,555 (GRCm39) splice site probably null
R6478:Atg10 UTSW 13 91,085,466 (GRCm39) missense probably damaging 1.00
R8287:Atg10 UTSW 13 91,170,799 (GRCm39) splice site probably benign
R9036:Atg10 UTSW 13 91,189,071 (GRCm39) missense probably benign 0.07
R9151:Atg10 UTSW 13 91,189,032 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAGCCTGGCTTTTAGAGTCA -3'
(R):5'- ACACCTACACATGTGTATGCAC -3'

Sequencing Primer
(F):5'- TGGCTTTTAGAGTCAGATGAAAAG -3'
(R):5'- TGCACACATACACATGCATG -3'
Posted On 2015-04-06