Incidental Mutation 'R9801:Atg12'
ID 735237
Institutional Source Beutler Lab
Gene Symbol Atg12
Ensembl Gene ENSMUSG00000032905
Gene Name autophagy related 12
Synonyms A330058M13Rik, Apg12l, 4931423H11Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R9801 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 46865484-46874683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46874460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 52 (T52A)
Ref Sequence ENSEMBL: ENSMUSP00000038489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025357] [ENSMUST00000035648] [ENSMUST00000224622] [ENSMUST00000225415] [ENSMUST00000225520] [ENSMUST00000226108]
AlphaFold Q9CQY1
Predicted Effect probably benign
Transcript: ENSMUST00000025357
SMART Domains Protein: ENSMUSP00000025357
Gene: ENSMUSG00000024480

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 148 1.4e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035648
AA Change: T52A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038489
Gene: ENSMUSG00000032905
AA Change: T52A

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:Atg8 51 140 9.4e-6 PFAM
Pfam:APG12 55 140 4.6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224622
Predicted Effect probably benign
Transcript: ENSMUST00000225415
Predicted Effect probably benign
Transcript: ENSMUST00000225520
Predicted Effect probably benign
Transcript: ENSMUST00000226108
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality. Mice homozygous for a conditional allele activated in POMC neurons exhibit increased diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,945,540 (GRCm39) N330K probably benign Het
4933402J07Rik A G 8: 88,290,717 (GRCm39) E25G probably damaging Het
Acss3 T C 10: 106,881,091 (GRCm39) T297A possibly damaging Het
Anks1 A G 17: 28,227,033 (GRCm39) E562G possibly damaging Het
Bbox1 T A 2: 110,100,418 (GRCm39) T260S probably benign Het
Btbd3 C T 2: 138,122,368 (GRCm39) R173* probably null Het
Cbr1 A C 16: 93,406,687 (GRCm39) R134S probably damaging Het
Cdcp2 A T 4: 106,964,262 (GRCm39) I371F possibly damaging Het
Cntrob T C 11: 69,212,233 (GRCm39) E124G possibly damaging Het
Cstf3 T C 2: 104,421,024 (GRCm39) S2P possibly damaging Het
Ctbs T C 3: 146,169,679 (GRCm39) V312A probably damaging Het
Cylc2 T A 4: 51,228,466 (GRCm39) V179E probably null Het
Dip2c T C 13: 9,626,936 (GRCm39) L658P probably damaging Het
Dus4l A G 12: 31,698,827 (GRCm39) I59T probably damaging Het
Extl3 A T 14: 65,314,782 (GRCm39) N133K probably benign Het
Fam83d T A 2: 158,610,310 (GRCm39) C93S probably damaging Het
Galr1 T C 18: 82,423,912 (GRCm39) S122G possibly damaging Het
Glra3 G A 8: 56,563,563 (GRCm39) V353M probably damaging Het
H2-M10.4 A T 17: 36,771,511 (GRCm39) N222K probably damaging Het
Klra7 C T 6: 130,205,477 (GRCm39) probably null Het
Lyst T A 13: 13,809,290 (GRCm39) V320E probably damaging Het
Me3 A C 7: 89,435,657 (GRCm39) D164A probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Nbr1 C A 11: 101,447,025 (GRCm39) Q4K probably damaging Het
Nr1i3 T C 1: 171,045,252 (GRCm39) L300P probably damaging Het
Pemt T A 11: 59,874,287 (GRCm39) N101I probably damaging Het
Pkd1l1 C A 11: 8,908,964 (GRCm39) E347* probably null Het
Plxna4 C T 6: 32,140,526 (GRCm39) probably null Het
Polq C T 16: 36,913,190 (GRCm39) R2420C probably damaging Het
Psg22 T C 7: 18,456,899 (GRCm39) Y261H probably benign Het
Pum1 C T 4: 130,481,328 (GRCm39) S722L probably benign Het
Rbl2 T C 8: 91,822,229 (GRCm39) Y464H probably benign Het
Rnf145 T A 11: 44,448,112 (GRCm39) I323N probably damaging Het
Rxylt1 T A 10: 121,926,608 (GRCm39) N168I probably damaging Het
Scgb2b7 A T 7: 31,404,580 (GRCm39) V40E probably damaging Het
Slmap G A 14: 26,143,595 (GRCm39) A764V probably damaging Het
Smarca4 G T 9: 21,586,397 (GRCm39) L1139F probably damaging Het
Svil A G 18: 5,049,062 (GRCm39) E113G probably damaging Het
Taf4b T C 18: 14,932,235 (GRCm39) S196P probably benign Het
Tcp10b A G 17: 13,281,867 (GRCm39) E79G possibly damaging Het
Tet3 T A 6: 83,346,436 (GRCm39) N1334Y possibly damaging Het
Tll2 A G 19: 41,194,993 (GRCm39) V31A probably benign Het
Trappc10 A G 10: 78,045,263 (GRCm39) I475T probably benign Het
Uba3 T A 6: 97,162,635 (GRCm39) D387V probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp260 T C 7: 29,804,937 (GRCm39) I279T possibly damaging Het
Other mutations in Atg12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0519:Atg12 UTSW 18 46,874,477 (GRCm39) missense probably benign 0.05
R4074:Atg12 UTSW 18 46,870,491 (GRCm39) missense probably benign 0.02
R4076:Atg12 UTSW 18 46,870,491 (GRCm39) missense probably benign 0.02
R7565:Atg12 UTSW 18 46,867,551 (GRCm39) missense probably damaging 1.00
R9738:Atg12 UTSW 18 46,874,505 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCCGTGTAAACGTTACCCAC -3'
(R):5'- TTCCTGTGTCAAGGCCCAAC -3'

Sequencing Primer
(F):5'- CGTCACACACCTCAGGTC -3'
(R):5'- TGTCAAGGCCCAACCCCTTC -3'
Posted On 2022-11-14