Incidental Mutation 'R4206:Acat3'
ID 318939
Institutional Source Beutler Lab
Gene Symbol Acat3
Ensembl Gene ENSMUSG00000062480
Gene Name acetyl-Coenzyme A acetyltransferase 3
Synonyms ACTL
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 13142720-13159482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13146273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 237 (Y237H)
Ref Sequence ENSEMBL: ENSMUSP00000125454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000089024] [ENSMUST00000151287] [ENSMUST00000160378]
AlphaFold Q80X81
Predicted Effect possibly damaging
Transcript: ENSMUST00000043923
AA Change: Y237H

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: Y237H

Pfam:Thiolase_N 8 267 2.9e-97 PFAM
Pfam:Thiolase_C 274 396 1.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082703
Predicted Effect probably benign
Transcript: ENSMUST00000089024
SMART Domains Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039

Pfam:Cpn60_TCP1 1 486 1.9e-132 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138709
Predicted Effect probably benign
Transcript: ENSMUST00000151287
SMART Domains Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039

Pfam:Cpn60_TCP1 28 535 6.3e-156 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160378
AA Change: Y237H

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: Y237H

Pfam:Thiolase_N 5 248 5.6e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160921
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,435 (GRCm39) K81R probably benign Het
Acacb T C 5: 114,351,712 (GRCm39) F1150L probably benign Het
Arfgap3 T C 15: 83,206,869 (GRCm39) T240A probably benign Het
Cabin1 T C 10: 75,590,675 (GRCm39) S23G possibly damaging Het
Cemip2 G T 19: 21,819,479 (GRCm39) R1090L probably damaging Het
Clasp1 A G 1: 118,506,636 (GRCm39) N949S probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dgka A T 10: 128,557,064 (GRCm39) L637Q probably damaging Het
Dst G A 1: 34,251,328 (GRCm39) R1801H probably damaging Het
Edil3 T C 13: 89,328,397 (GRCm39) S284P probably damaging Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Ell2 A G 13: 75,910,067 (GRCm39) D139G probably damaging Het
Fam187a A G 11: 102,777,038 (GRCm39) R281G probably damaging Het
Gin1 A G 1: 97,720,145 (GRCm39) D380G possibly damaging Het
Gpr149 T G 3: 62,511,924 (GRCm39) D25A possibly damaging Het
Gyg1 A G 3: 20,206,901 (GRCm39) S90P probably benign Het
Hpx C T 7: 105,244,354 (GRCm39) M190I probably null Het
Irf2bpl C T 12: 86,929,810 (GRCm39) V288I probably benign Het
Lyst A G 13: 13,810,574 (GRCm39) H748R probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mpdz A T 4: 81,299,999 (GRCm39) M333K probably benign Het
Muc5ac C T 7: 141,370,847 (GRCm39) S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntsr1 A G 2: 180,142,545 (GRCm39) D112G probably damaging Het
Or56b1 T A 7: 104,285,356 (GRCm39) N158K possibly damaging Het
Or7a42 T C 10: 78,791,117 (GRCm39) F26S probably benign Het
Or9s14 A C 1: 92,536,317 (GRCm39) T253P possibly damaging Het
Parg A G 14: 31,976,493 (GRCm39) K178R probably benign Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Rad54l2 A C 9: 106,594,994 (GRCm39) V321G probably damaging Het
Rcn2 A G 9: 55,952,491 (GRCm39) Y112C possibly damaging Het
Rnf123 A T 9: 107,941,162 (GRCm39) D639E probably benign Het
Rufy2 C T 10: 62,840,551 (GRCm39) Q441* probably null Het
Scgb2b12 T C 7: 32,026,063 (GRCm39) Y43C probably damaging Het
Scrn3 T A 2: 73,149,845 (GRCm39) probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc22a8 T C 19: 8,585,597 (GRCm39) S321P probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tex2 A G 11: 106,458,398 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,009 (GRCm39) I119T probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Ttn A G 2: 76,602,911 (GRCm39) I16691T possibly damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 (GRCm39) V142A probably damaging Het
Uggt2 C T 14: 119,286,674 (GRCm39) D221N probably damaging Het
Wnt4 A G 4: 137,023,654 (GRCm39) K207R possibly damaging Het
Zfp608 T C 18: 55,121,267 (GRCm39) R107G probably damaging Het
Other mutations in Acat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Acat3 APN 17 13,144,207 (GRCm39) missense probably benign
IGL02570:Acat3 APN 17 13,159,181 (GRCm39) missense probably benign
R1340:Acat3 UTSW 17 13,148,564 (GRCm39) splice site probably benign
R1747:Acat3 UTSW 17 13,143,695 (GRCm39) missense possibly damaging 0.49
R1839:Acat3 UTSW 17 13,147,493 (GRCm39) nonsense probably null
R2126:Acat3 UTSW 17 13,146,294 (GRCm39) missense probably benign 0.00
R3758:Acat3 UTSW 17 13,146,354 (GRCm39) splice site probably benign
R3790:Acat3 UTSW 17 13,147,460 (GRCm39) nonsense probably null
R8714:Acat3 UTSW 17 13,147,516 (GRCm39) missense probably benign 0.09
R8931:Acat3 UTSW 17 13,147,405 (GRCm39) missense probably damaging 1.00
R8974:Acat3 UTSW 17 13,143,716 (GRCm39) missense probably damaging 0.97
R9053:Acat3 UTSW 17 13,147,402 (GRCm39) missense probably damaging 0.99
R9060:Acat3 UTSW 17 13,145,293 (GRCm39) missense
R9133:Acat3 UTSW 17 13,159,176 (GRCm39) missense probably benign
R9292:Acat3 UTSW 17 13,146,255 (GRCm39) missense probably benign 0.14
R9615:Acat3 UTSW 17 13,147,502 (GRCm39) nonsense probably null
Z1177:Acat3 UTSW 17 13,153,770 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-10