Incidental Mutation 'R5035:Acat1'
ID 389505
Institutional Source Beutler Lab
Gene Symbol Acat1
Ensembl Gene ENSMUSG00000032047
Gene Name acetyl-Coenzyme A acetyltransferase 1
Synonyms Acat, 6330585C21Rik
MMRRC Submission 042626-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R5035 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 53491822-53521650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53494810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 361 (I361V)
Ref Sequence ENSEMBL: ENSMUSP00000034547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034547]
AlphaFold Q8QZT1
Predicted Effect probably benign
Transcript: ENSMUST00000034547
AA Change: I361V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: I361V

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
Pfam:Thiolase_N 39 296 3.7e-98 PFAM
Pfam:ketoacyl-synt 104 166 1.1e-8 PFAM
Pfam:Thiolase_C 303 423 1.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169317
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afp A G 5: 90,655,764 (GRCm39) D583G probably benign Het
Bcas3 C T 11: 85,434,771 (GRCm39) A552V probably damaging Het
Bfsp2 T G 9: 103,357,065 (GRCm39) T121P probably benign Het
Bicra C T 7: 15,713,349 (GRCm39) R951Q possibly damaging Het
Cdc40 G A 10: 40,725,809 (GRCm39) T220I probably benign Het
Cdk5rap3 T C 11: 96,806,911 (GRCm39) probably benign Het
Clcnka A T 4: 141,122,469 (GRCm39) Y179* probably null Het
Creb3l1 T A 2: 91,817,431 (GRCm39) I361F probably benign Het
Csmd3 T C 15: 47,454,175 (GRCm39) Y3557C probably damaging Het
Dab2ip A G 2: 35,599,953 (GRCm39) S190G probably benign Het
Dbx1 T C 7: 49,282,284 (GRCm39) H307R unknown Het
Dock8 C A 19: 25,063,571 (GRCm39) P258T probably damaging Het
Eml6 T C 11: 29,804,187 (GRCm39) I305V probably benign Het
Frem3 T A 8: 81,342,543 (GRCm39) F1612Y probably damaging Het
Fubp1 A G 3: 151,920,488 (GRCm39) T76A probably benign Het
Glmp G C 3: 88,233,951 (GRCm39) probably benign Het
Gm20918 A G Y: 5,045,992 (GRCm39) Q183R probably benign Het
Krt28 T C 11: 99,257,650 (GRCm39) N397S probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map3k13 T C 16: 21,740,421 (GRCm39) Y583H probably benign Het
Mcm3 A T 1: 20,873,642 (GRCm39) probably benign Het
Misp T C 10: 79,663,790 (GRCm39) V588A probably benign Het
Or1j19 A G 2: 36,676,903 (GRCm39) D122G probably damaging Het
Or2z9 T A 8: 72,853,922 (GRCm39) L106H probably damaging Het
Or4c105 A T 2: 88,648,443 (GRCm39) K309N probably benign Het
Or51a43 G A 7: 103,717,614 (GRCm39) T208I possibly damaging Het
Or8g37 G A 9: 39,731,390 (GRCm39) A152T possibly damaging Het
Osbpl9 A G 4: 108,923,364 (GRCm39) F449L probably damaging Het
Pkhd1l1 A G 15: 44,431,720 (GRCm39) D3358G probably damaging Het
Prodh2 A T 7: 30,205,904 (GRCm39) S247C possibly damaging Het
Prr23a3 G A 9: 98,747,183 (GRCm39) E46K possibly damaging Het
Ptprz1 A G 6: 23,016,214 (GRCm39) I837V probably benign Het
Rabgap1l A C 1: 160,551,606 (GRCm39) F263V probably damaging Het
Rnf4 A G 5: 34,508,683 (GRCm39) K182E probably damaging Het
Slc24a2 G T 4: 86,929,943 (GRCm39) R469S possibly damaging Het
Speer2 A G 16: 69,654,829 (GRCm39) probably null Het
Tg C A 15: 66,553,662 (GRCm39) probably null Het
Tns1 G A 1: 73,992,979 (GRCm39) probably benign Het
Top2b G T 14: 16,409,966 (GRCm38) A878S probably benign Het
Trgc4 G T 13: 19,536,506 (GRCm39) R188L unknown Het
Ugt3a1 G A 15: 9,361,704 (GRCm39) R160Q probably benign Het
Ush2a G T 1: 188,643,005 (GRCm39) L4122F probably damaging Het
Other mutations in Acat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Acat1 APN 9 53,493,895 (GRCm39) missense probably damaging 0.98
IGL02160:Acat1 APN 9 53,503,287 (GRCm39) missense probably benign 0.00
IGL02246:Acat1 APN 9 53,496,166 (GRCm39) missense probably benign 0.06
IGL02582:Acat1 APN 9 53,506,045 (GRCm39) missense probably benign 0.37
IGL03028:Acat1 APN 9 53,506,062 (GRCm39) missense probably benign 0.14
R0637:Acat1 UTSW 9 53,498,831 (GRCm39) missense probably damaging 1.00
R1200:Acat1 UTSW 9 53,494,810 (GRCm39) missense possibly damaging 0.90
R1302:Acat1 UTSW 9 53,500,525 (GRCm39) missense possibly damaging 0.70
R1331:Acat1 UTSW 9 53,496,183 (GRCm39) missense probably benign 0.10
R3683:Acat1 UTSW 9 53,498,765 (GRCm39) missense probably damaging 1.00
R4829:Acat1 UTSW 9 53,502,756 (GRCm39) missense probably damaging 1.00
R5354:Acat1 UTSW 9 53,500,483 (GRCm39) missense possibly damaging 0.91
R5411:Acat1 UTSW 9 53,493,946 (GRCm39) missense probably damaging 1.00
R5521:Acat1 UTSW 9 53,494,807 (GRCm39) nonsense probably null
R5634:Acat1 UTSW 9 53,494,921 (GRCm39) intron probably benign
R5905:Acat1 UTSW 9 53,503,366 (GRCm39) missense probably damaging 1.00
R6028:Acat1 UTSW 9 53,503,366 (GRCm39) missense probably damaging 1.00
R6925:Acat1 UTSW 9 53,503,329 (GRCm39) missense probably benign 0.12
R8298:Acat1 UTSW 9 53,505,724 (GRCm39) missense probably damaging 1.00
R9057:Acat1 UTSW 9 53,503,300 (GRCm39) missense probably damaging 1.00
R9237:Acat1 UTSW 9 53,494,816 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTGCTAACTGTGTTCACTACTGG -3'
(R):5'- CCTTTTCAAACATCTGTGGAGAC -3'

Sequencing Primer
(F):5'- ATGGACAGAAAGGAAAACTGCTAATC -3'
(R):5'- AAGCAAAATCTGGAAAACAAATCC -3'
Posted On 2016-06-06