Incidental Mutation 'IGL02246:Acat1'
ID286194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acat1
Ensembl Gene ENSMUSG00000032047
Gene Nameacetyl-Coenzyme A acetyltransferase 1
Synonyms6330585C21Rik, Acat
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.304) question?
Stock #IGL02246
Quality Score
Status
Chromosome9
Chromosomal Location53580522-53610382 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 53584866 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 324 (L324F)
Ref Sequence ENSEMBL: ENSMUSP00000034547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034547]
Predicted Effect probably benign
Transcript: ENSMUST00000034547
AA Change: L324F

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: L324F

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
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik G T 4: 123,860,862 D190Y probably damaging Het
Ago2 T C 15: 73,108,418 H743R probably damaging Het
Ahnak A T 19: 9,008,268 L2305F probably damaging Het
Ankhd1 T A 18: 36,656,726 H2438Q probably damaging Het
Atm G T 9: 53,527,185 Q162K probably benign Het
Bpifa6 A T 2: 153,989,276 E254V probably damaging Het
Carns1 T A 19: 4,166,432 N584Y possibly damaging Het
Cmklr1 T C 5: 113,614,400 N180S probably benign Het
Col6a5 G A 9: 105,911,107 R1565* probably null Het
Fbxo43 T A 15: 36,162,696 I122L probably benign Het
Fibp A G 19: 5,463,236 Y193C probably damaging Het
Gm10923 A G 15: 85,116,931 probably benign Het
Il12rb2 A G 6: 67,308,956 probably null Het
Jakmip2 T C 18: 43,567,158 E445G possibly damaging Het
Krcc1 G A 6: 71,284,421 D146N probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map2k5 A T 9: 63,377,129 D43E probably benign Het
Nup155 A G 15: 8,143,002 K824R probably benign Het
Olfr1394 T C 11: 49,160,094 S27P probably benign Het
Olfr577 T C 7: 102,973,744 T83A possibly damaging Het
Phkg1 G A 5: 129,864,638 R324W probably damaging Het
Plcd1 G A 9: 119,072,609 L616F probably benign Het
Rnf141 A T 7: 110,825,287 S122T probably benign Het
Tap1 G A 17: 34,193,989 V593M probably benign Het
Ticrr T C 7: 79,675,328 L534P probably damaging Het
Ubr4 G T 4: 139,459,103 E640D possibly damaging Het
Vmn1r169 A C 7: 23,577,236 I18L probably benign Het
Other mutations in Acat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Acat1 APN 9 53582595 missense probably damaging 0.98
IGL02160:Acat1 APN 9 53591987 missense probably benign 0.00
IGL02582:Acat1 APN 9 53594745 missense probably benign 0.37
IGL03028:Acat1 APN 9 53594762 missense probably benign 0.14
R0637:Acat1 UTSW 9 53587531 missense probably damaging 1.00
R1200:Acat1 UTSW 9 53583510 missense possibly damaging 0.90
R1302:Acat1 UTSW 9 53589225 missense possibly damaging 0.70
R1331:Acat1 UTSW 9 53584883 missense probably benign 0.10
R3683:Acat1 UTSW 9 53587465 missense probably damaging 1.00
R4829:Acat1 UTSW 9 53591456 missense probably damaging 1.00
R5035:Acat1 UTSW 9 53583510 missense probably benign 0.00
R5354:Acat1 UTSW 9 53589183 missense possibly damaging 0.91
R5411:Acat1 UTSW 9 53582646 missense probably damaging 1.00
R5521:Acat1 UTSW 9 53583507 nonsense probably null
R5634:Acat1 UTSW 9 53583621 intron probably benign
R5905:Acat1 UTSW 9 53592066 missense probably damaging 1.00
R6028:Acat1 UTSW 9 53592066 missense probably damaging 1.00
R6925:Acat1 UTSW 9 53592029 missense probably benign 0.12
Posted On2015-04-16