Incidental Mutation 'R5634:Acat1'
ID 440033
Institutional Source Beutler Lab
Gene Symbol Acat1
Ensembl Gene ENSMUSG00000032047
Gene Name acetyl-Coenzyme A acetyltransferase 1
Synonyms Acat, 6330585C21Rik
MMRRC Submission 043285-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R5634 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 53491822-53521650 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 53494921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034547]
AlphaFold Q8QZT1
Predicted Effect probably benign
Transcript: ENSMUST00000034547
SMART Domains Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (60/61)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen A T 7: 78,552,255 (GRCm39) T34S probably benign Het
Apoh T A 11: 108,302,875 (GRCm39) V280E probably damaging Het
Ccdc87 A G 19: 4,890,693 (GRCm39) H395R probably benign Het
Ccrl2 T A 9: 110,885,055 (GRCm39) probably null Het
Cdh20 T C 1: 104,902,800 (GRCm39) F497S probably damaging Het
Cfap54 C A 10: 92,740,125 (GRCm39) probably benign Het
Cimap1b T A 15: 89,262,410 (GRCm39) T70S probably benign Het
Cipc T A 12: 86,999,749 (GRCm39) probably null Het
Col14a1 T A 15: 55,381,694 (GRCm39) Y1756N probably damaging Het
Cyp2c54 G A 19: 40,060,858 (GRCm39) A95V possibly damaging Het
Dcdc5 A G 2: 106,234,325 (GRCm39) noncoding transcript Het
Dnah17 T C 11: 117,943,752 (GRCm39) probably null Het
Eepd1 A T 9: 25,514,849 (GRCm39) N552I probably benign Het
Eif2ak4 A T 2: 118,292,792 (GRCm39) R1218W probably damaging Het
Fbxw18 T A 9: 109,505,871 (GRCm39) I467F possibly damaging Het
Ffar4 GCTTCTT GCTT 19: 38,102,373 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpha2 A G 19: 6,276,890 (GRCm39) T25A probably benign Het
Grin3a T A 4: 49,792,843 (GRCm39) I297F probably damaging Het
Herc2 G A 7: 55,856,531 (GRCm39) G3924R probably damaging Het
Hmcn2 G T 2: 31,223,893 (GRCm39) D97Y probably damaging Het
Igdcc4 G A 9: 65,041,828 (GRCm39) G1131D probably benign Het
Il18rap T C 1: 40,578,536 (GRCm39) probably benign Het
Ino80d C A 1: 63,101,442 (GRCm39) probably benign Het
Klhl1 T C 14: 96,477,707 (GRCm39) T454A probably damaging Het
Krt84 C A 15: 101,437,084 (GRCm39) V360L probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37 T C 11: 103,432,840 (GRCm39) N1267S possibly damaging Het
Mapkbp1 A G 2: 119,803,576 (GRCm39) N15S probably damaging Het
Med13l T C 5: 118,698,915 (GRCm39) F22S possibly damaging Het
Mrc2 T A 11: 105,227,040 (GRCm39) C548* probably null Het
Nacad T C 11: 6,552,387 (GRCm39) E268G possibly damaging Het
Nfxl1 A G 5: 72,686,833 (GRCm39) C527R probably damaging Het
Nphp1 A T 2: 127,601,570 (GRCm39) C412S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4g16 A G 2: 111,137,437 (GRCm39) I296V probably benign Het
Per2 C T 1: 91,372,429 (GRCm39) C215Y probably benign Het
Pias1 T C 9: 62,803,255 (GRCm39) T343A probably benign Het
Pja2 C T 17: 64,599,862 (GRCm39) V541M probably damaging Het
Plxna4 G A 6: 32,214,658 (GRCm39) Q608* probably null Het
Ppil4 T A 10: 7,690,542 (GRCm39) D398E probably benign Het
Ppp4r3a T A 12: 101,009,780 (GRCm39) D8V probably damaging Het
Pstk A C 7: 130,973,072 (GRCm39) D57A probably damaging Het
Ptprd T C 4: 75,990,255 (GRCm39) I53V probably benign Het
Pyroxd2 A G 19: 42,728,924 (GRCm39) F159L probably benign Het
Rnf103 A G 6: 71,486,601 (GRCm39) M411V probably benign Het
Scn4a T C 11: 106,220,830 (GRCm39) D943G probably benign Het
Sdk2 T C 11: 113,742,540 (GRCm39) T790A probably damaging Het
Sfr1 T C 19: 47,722,310 (GRCm39) L242P probably damaging Het
Snx25 T C 8: 46,494,428 (GRCm39) D819G possibly damaging Het
Sult2b1 A G 7: 45,383,506 (GRCm39) V183A probably damaging Het
Tcf4 C A 18: 69,769,918 (GRCm39) S8R possibly damaging Het
Ttc7 A G 17: 87,649,515 (GRCm39) D531G probably benign Het
Uap1l1 A C 2: 25,254,145 (GRCm39) C271G probably damaging Het
Ubtf T C 11: 102,201,150 (GRCm39) Y268C probably damaging Het
Vinac1 A T 2: 128,881,406 (GRCm39) D173E probably benign Het
Zfp951 A T 5: 104,963,155 (GRCm39) M137K 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
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'- TACTCACCCAATTGGATGGC -3'
(R):5'- CTTTTCAAACATCTGTGGAGACTG -3'

Sequencing Primer
(F):5'- GATGGCCCAGAGAAACAGCTC -3'
(R):5'- CTGTGGAGACTGTATTATACTATAA -3'
Posted On 2016-11-08