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? Probably non essential (E-score: 0.240) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 12923833-12940402 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12927386 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 151,473,515 K81R probably benign Het
Acacb T C 5: 114,213,651 F1150L probably benign Het
Arfgap3 T C 15: 83,322,668 T240A probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 118,121,899 probably benign Het
Cabin1 T C 10: 75,754,841 S23G possibly damaging Het
Clasp1 A G 1: 118,578,906 N949S probably damaging Het
Csrp1 T G 1: 135,745,327 C61G probably damaging Het
Dgka A T 10: 128,721,195 L637Q probably damaging Het
Dst G A 1: 34,212,247 R1801H probably damaging Het
Edil3 T C 13: 89,180,278 S284P probably damaging Het
Eif2d A G 1: 131,154,363 Y64C probably damaging Het
Ell2 A G 13: 75,761,948 D139G probably damaging Het
Fam187a A G 11: 102,886,212 R281G probably damaging Het
Gin1 A G 1: 97,792,420 D380G possibly damaging Het
Gpr149 T G 3: 62,604,503 D25A possibly damaging Het
Gyg A G 3: 20,152,737 S90P probably benign Het
Hpx C T 7: 105,595,147 M190I probably null Het
Irf2bpl C T 12: 86,883,036 V288I probably benign Het
Lyst A G 13: 13,635,989 H748R probably benign Het
Mmrn1 G A 6: 60,958,180 G220D probably damaging Het
Mpdz A T 4: 81,381,762 M333K probably benign Het
Muc5ac C T 7: 141,817,110 S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 84,716,247 probably null Het
Ntsr1 A G 2: 180,500,752 D112G probably damaging Het
Olfr1410 A C 1: 92,608,595 T253P possibly damaging Het
Olfr657 T A 7: 104,636,149 N158K possibly damaging Het
Olfr8 T C 10: 78,955,283 F26S probably benign Het
Parg A G 14: 32,254,536 K178R probably benign Het
Pde8b C A 13: 95,222,545 C90F probably benign Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Rad54l2 A C 9: 106,717,795 V321G probably damaging Het
Rcn2 A G 9: 56,045,207 Y112C possibly damaging Het
Rnf123 A T 9: 108,063,963 D639E probably benign Het
Rufy2 C T 10: 63,004,772 Q441* probably null Het
Scgb2b12 T C 7: 32,326,638 Y43C probably damaging Het
Scrn3 T A 2: 73,319,501 probably null Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc22a8 T C 19: 8,608,233 S321P probably benign Het
Tex11 C A X: 100,933,415 A487S possibly damaging Het
Tex2 A G 11: 106,567,572 probably benign Het
Tmem2 G T 19: 21,842,115 R1090L probably damaging Het
Trip13 A G 13: 73,932,890 I119T probably benign Het
Tsku C T 7: 98,352,998 R42H probably damaging Het
Ttn A G 2: 76,772,567 I16691T possibly damaging Het
Tyr A G 7: 87,429,068 L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 V142A probably damaging Het
Uggt2 C T 14: 119,049,262 D221N probably damaging Het
Wnt4 A G 4: 137,296,343 K207R possibly damaging Het
Zfp608 T C 18: 54,988,195 R107G probably damaging Het
Other mutations in Acat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Acat3 APN 17 12925320 missense probably benign
IGL02570:Acat3 APN 17 12940294 missense probably benign
R1340:Acat3 UTSW 17 12929677 splice site probably benign
R1747:Acat3 UTSW 17 12924808 missense possibly damaging 0.49
R1839:Acat3 UTSW 17 12928606 nonsense probably null
R2126:Acat3 UTSW 17 12927407 missense probably benign 0.00
R3758:Acat3 UTSW 17 12927467 splice site probably benign
R3790:Acat3 UTSW 17 12928573 nonsense probably null
R8714:Acat3 UTSW 17 12928629 missense probably benign 0.09
R8931:Acat3 UTSW 17 12928518 missense probably damaging 1.00
R8974:Acat3 UTSW 17 12924829 missense probably damaging 0.97
R9053:Acat3 UTSW 17 12928515 missense probably damaging 0.99
R9060:Acat3 UTSW 17 12926406 missense
R9133:Acat3 UTSW 17 12940289 missense probably benign
R9292:Acat3 UTSW 17 12927368 missense probably benign 0.14
R9615:Acat3 UTSW 17 12928615 nonsense probably null
Z1177:Acat3 UTSW 17 12934883 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACGTTTTCTCTCTAACAGCTCTGG -3'
(R):5'- TCTCATGGGAGAGCATGCAG -3'

Sequencing Primer
(F):5'- CATCAAATTCAGATGTAGCCGGGC -3'
(R):5'- TCTCATGGGAGAGCATGCAGTAATTC -3'
Posted On 2015-06-10