Incidental Mutation 'R9057:Acat1'
ID 688751
Institutional Source Beutler Lab
Gene Symbol Acat1
Ensembl Gene ENSMUSG00000032047
Gene Name acetyl-Coenzyme A acetyltransferase 1
Synonyms Acat, 6330585C21Rik
MMRRC Submission 068883-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R9057 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 53491822-53521650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53503300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 180 (G180R)
Ref Sequence ENSEMBL: ENSMUSP00000034547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034547]
AlphaFold Q8QZT1
Predicted Effect probably damaging
Transcript: ENSMUST00000034547
AA Change: G180R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: G180R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,782 (GRCm39) probably benign Het
Abca2 G A 2: 25,331,584 (GRCm39) D1324N probably benign Het
AI837181 A C 19: 5,476,730 (GRCm39) T298P probably damaging Het
Alms1 T A 6: 85,586,814 (GRCm39) D556E unknown Het
Ankle1 T A 8: 71,858,961 (GRCm39) W65R probably benign Het
Ano5 A G 7: 51,203,654 (GRCm39) N234S probably benign Het
Asb7 T A 7: 66,309,395 (GRCm39) probably benign Het
Atad2b T A 12: 5,068,102 (GRCm39) C1033* probably null Het
B4galnt1 A G 10: 127,006,999 (GRCm39) D452G probably damaging Het
B4gat1 G T 19: 5,089,056 (GRCm39) A18S possibly damaging Het
Bard1 A G 1: 71,069,807 (GRCm39) Y724H probably damaging Het
Bcl9 A T 3: 97,112,306 (GRCm39) M1383K possibly damaging Het
Cenpt C A 8: 106,576,405 (GRCm39) *43L probably null Het
Ces2f C A 8: 105,674,744 (GRCm39) H49N probably benign Het
Col17a1 A T 19: 47,637,522 (GRCm39) D1245E probably damaging Het
Col19a1 G T 1: 24,549,962 (GRCm39) H312N unknown Het
Cyb5d2 C T 11: 72,679,924 (GRCm39) E124K probably benign Het
Dnah5 C T 15: 28,391,014 (GRCm39) A3291V probably damaging Het
Exo5 A T 4: 120,779,186 (GRCm39) D226E probably damaging Het
Ggt6 C T 11: 72,328,067 (GRCm39) T189M probably damaging Het
Gm5592 C A 7: 40,938,887 (GRCm39) S723Y possibly damaging Het
Golga3 C T 5: 110,332,465 (GRCm39) T133M probably damaging Het
Heatr5a C T 12: 51,986,420 (GRCm39) E598K probably damaging Het
Hfe T A 13: 23,889,658 (GRCm39) I330F possibly damaging Het
Htt A G 5: 35,009,454 (GRCm39) I1478M possibly damaging Het
Igf1r T C 7: 67,833,186 (GRCm39) F449L probably damaging Het
Ints4 T C 7: 97,158,987 (GRCm39) V453A possibly damaging Het
Ints6 A G 14: 62,951,740 (GRCm39) probably null Het
Klrh1 T A 6: 129,752,803 (GRCm39) M1L probably benign Het
Kpna4 G A 3: 69,002,018 (GRCm39) T248M probably damaging Het
Lactb T C 9: 66,874,977 (GRCm39) I372V possibly damaging Het
Mib1 T A 18: 10,795,728 (GRCm39) D696E possibly damaging Het
Mpzl3 G A 9: 44,979,592 (GRCm39) R181Q probably damaging Het
Mup12 A T 4: 60,696,779 (GRCm39) I33N probably damaging Het
Myh10 A G 11: 68,656,011 (GRCm39) I502V possibly damaging Het
Nacad C A 11: 6,550,876 (GRCm39) V772F possibly damaging Het
Nbeal2 G T 9: 110,456,218 (GRCm39) T2417N probably benign Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Or2ag17 A T 7: 106,389,296 (GRCm39) V304D probably damaging Het
Or6e1 T C 14: 54,520,148 (GRCm39) E68G probably damaging Het
Pan2 A T 10: 128,156,141 (GRCm39) H1133L probably damaging Het
Pgk2 A G 17: 40,518,735 (GRCm39) V231A possibly damaging Het
Psmd12 G A 11: 107,377,328 (GRCm39) R129Q probably null Het
Rpl23a G A 11: 78,072,021 (GRCm39) R139C probably benign Het
Sars2 G T 7: 28,446,246 (GRCm39) Q158H Het
Scd3 C T 19: 44,224,340 (GRCm39) P191L probably damaging Het
Serac1 C A 17: 6,111,890 (GRCm39) S262I probably damaging Het
Sh3bp1 A G 15: 78,794,209 (GRCm39) T526A probably benign Het
Slc26a3 A T 12: 31,520,958 (GRCm39) T721S probably benign Het
Slc8a1 A C 17: 81,955,479 (GRCm39) S520A probably benign Het
Sp9 A T 2: 73,103,613 (GRCm39) S56C probably damaging Het
Spire2 T A 8: 124,095,547 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,167 (GRCm39) L255R probably damaging Het
Tcp11l1 A G 2: 104,528,026 (GRCm39) I156T probably damaging Het
Tnrc6b G A 15: 80,763,349 (GRCm39) A284T probably benign Het
Trappc14 A T 5: 138,260,949 (GRCm39) V232E probably damaging Het
Tsc1 T A 2: 28,575,874 (GRCm39) L919H probably damaging Het
Vps13c T A 9: 67,828,209 (GRCm39) H1454Q probably benign Het
Vps41 T A 13: 19,027,702 (GRCm39) D537E probably benign Het
Wnt16 T A 6: 22,288,823 (GRCm39) C47S probably damaging Het
Zfhx2 C T 14: 55,310,027 (GRCm39) E840K possibly damaging Het
Zfp61 A T 7: 23,990,702 (GRCm39) V483E probably benign Het
Zfp870 A T 17: 33,102,793 (GRCm39) S179T probably benign 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
R5035:Acat1 UTSW 9 53,494,810 (GRCm39) missense probably benign 0.00
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
R9237:Acat1 UTSW 9 53,494,816 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTCCCTATTAAAGCAGCATTCG -3'
(R):5'- CACAGTGCCAACAGTTGTGTG -3'

Sequencing Primer
(F):5'- GTAACTGAGAGCCCATACTGATCTTC -3'
(R):5'- CACAGAGCCAACAGCAGTGTG -3'
Posted On 2021-11-19