Incidental Mutation 'R0637:Acat1'
ID 56754
Institutional Source Beutler Lab
Gene Symbol Acat1
Ensembl Gene ENSMUSG00000032047
Gene Name acetyl-Coenzyme A acetyltransferase 1
Synonyms Acat, 6330585C21Rik
MMRRC Submission 038826-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R0637 (G1)
Quality Score 167
Status Validated
Chromosome 9
Chromosomal Location 53491822-53521650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53498831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 285 (D285N)
Ref Sequence ENSEMBL: ENSMUSP00000034547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034547]
AlphaFold Q8QZT1
Predicted Effect probably damaging
Transcript: ENSMUST00000034547
AA Change: D285N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: D285N

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 0.9406 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 94.9%
Validation Efficiency 100% (68/68)
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
Aldh3a1 G A 11: 61,106,304 (GRCm39) probably benign Het
Alms1 A G 6: 85,600,015 (GRCm39) T2083A possibly damaging Het
Atrip C T 9: 108,890,241 (GRCm39) M143I possibly damaging Het
Aup1 T A 6: 83,033,842 (GRCm39) V344D probably damaging Het
Baiap2 G A 11: 119,891,405 (GRCm39) V511M probably benign Het
Bnip2 T A 9: 69,910,955 (GRCm39) probably null Het
Cacna1i A T 15: 80,256,855 (GRCm39) Y1083F probably damaging Het
Cbr4 T C 8: 61,943,740 (GRCm39) probably benign Het
Ces2b C T 8: 105,561,237 (GRCm39) probably benign Het
Chd1 A G 17: 15,962,550 (GRCm39) N769S possibly damaging Het
Clca3b A T 3: 144,533,701 (GRCm39) V558D probably benign Het
Col12a1 T C 9: 79,564,017 (GRCm39) D1736G probably benign Het
Cpne8 C A 15: 90,532,824 (GRCm39) C61F probably damaging Het
Cxcr1 A G 1: 74,231,998 (GRCm39) I8T probably benign Het
D630003M21Rik T G 2: 158,037,327 (GRCm39) probably benign Het
Dcaf17 T A 2: 70,890,763 (GRCm39) D99E probably damaging Het
Fbf1 C T 11: 116,050,880 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,773,354 (GRCm39) H570L possibly damaging Het
Gars1 G A 6: 55,046,472 (GRCm39) probably null Het
Gm10309 A G 17: 86,806,463 (GRCm39) probably benign Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gm9892 G A 8: 52,649,860 (GRCm39) Q78* probably null Het
Has1 A G 17: 18,064,125 (GRCm39) Y505H possibly damaging Het
Hivep3 T A 4: 119,989,738 (GRCm39) L2063* probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Itgb3 T C 11: 104,549,702 (GRCm39) V614A probably benign Het
Lrrc23 A G 6: 124,755,321 (GRCm39) probably benign Het
Lrrc63 A T 14: 75,335,660 (GRCm39) probably benign Het
Mfhas1 C T 8: 36,057,180 (GRCm39) R357* probably null Het
Mink1 C A 11: 70,492,502 (GRCm39) N123K probably damaging Het
Mtmr4 A G 11: 87,501,890 (GRCm39) H591R probably benign Het
Nav3 T C 10: 109,606,058 (GRCm39) T923A probably benign Het
Ncapg A G 5: 45,844,666 (GRCm39) T554A probably damaging Het
Nfe2l1 T C 11: 96,718,514 (GRCm39) Y7C probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Obscn A T 11: 58,942,470 (GRCm39) M4904K probably damaging Het
Obscn G T 11: 58,973,602 (GRCm39) L1910I probably damaging Het
Or8b41 T C 9: 38,055,178 (GRCm39) F244S probably benign Het
Pcdhb15 T A 18: 37,608,619 (GRCm39) V617E probably damaging Het
Pelp1 T C 11: 70,286,530 (GRCm39) T533A possibly damaging Het
Pgrmc1 T C X: 35,865,924 (GRCm39) F160S probably damaging Het
Pink1 G T 4: 138,045,357 (GRCm39) P239Q probably damaging Het
Pramel25 A T 4: 143,520,479 (GRCm39) Y77F probably benign Het
Prr27 A G 5: 87,999,005 (GRCm39) probably benign Het
Rbpms G A 8: 34,296,864 (GRCm39) P138S probably damaging Het
Rcc2 T C 4: 140,445,055 (GRCm39) probably benign Het
Rgs3 T C 4: 62,564,910 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo1 C T 16: 72,798,839 (GRCm39) T933M probably benign Het
Sinhcaf A G 6: 148,832,163 (GRCm39) probably benign Het
Steap4 T C 5: 8,028,398 (GRCm39) probably benign Het
Tenm3 T C 8: 48,689,560 (GRCm39) Y2009C probably damaging Het
Tnr A C 1: 159,677,905 (GRCm39) T97P possibly damaging Het
Topaz1 T A 9: 122,620,542 (GRCm39) L1320* probably null Het
Topaz1 A G 9: 122,626,727 (GRCm39) M1452V probably benign Het
Trank1 T G 9: 111,219,509 (GRCm39) F2082C probably damaging Het
Trim24 C A 6: 37,935,494 (GRCm39) probably null Het
Tspoap1 T A 11: 87,668,066 (GRCm39) probably benign Het
Ubr4 T C 4: 139,126,926 (GRCm39) L483P probably damaging Het
Vmn2r2 T A 3: 64,033,999 (GRCm39) T508S probably benign Het
Vps18 C T 2: 119,124,386 (GRCm39) R438C probably damaging Het
Zfp366 C A 13: 99,365,474 (GRCm39) R212S probably damaging Het
Zkscan4 T A 13: 21,665,477 (GRCm39) C122S 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
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
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'- agcattagtaacctggactgaaacCTAGA -3'
(R):5'- gccagaaaacaaaaCACCAAACAAACAAAGTA -3'

Sequencing Primer
(F):5'- taacctggactgaaacCTAGATTCTC -3'
(R):5'- agaaaccctgtctcagaaaacc -3'
Posted On 2013-07-11