Incidental Mutation 'R8714:Acat3'
ID 669794
Institutional Source Beutler Lab
Gene Symbol Acat3
Ensembl Gene ENSMUSG00000062480
Gene Name acetyl-Coenzyme A acetyltransferase 3
Synonyms ACTL
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R8714 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 12923833-12940402 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12928629 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 167 (V167E)
Ref Sequence ENSEMBL: ENSMUSP00000045912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000089024] [ENSMUST00000151287] [ENSMUST00000160378]
AlphaFold Q80X81
Predicted Effect probably benign
Transcript: ENSMUST00000043923
AA Change: V167E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: V167E

DomainStartEndE-ValueType
Pfam:Thiolase_N 8 267 2.9e-97 PFAM
Pfam:Thiolase_C 274 396 1.3e-52 PFAM
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 probably benign
Transcript: ENSMUST00000151287
SMART Domains Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 28 535 6.3e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160378
AA Change: V167E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: V167E

DomainStartEndE-ValueType
Pfam:Thiolase_N 5 248 5.6e-91 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,242,896 A137T probably benign Het
4930474N05Rik T A 14: 36,096,499 C151* probably null Het
Abca4 A G 3: 122,148,879 T1674A probably benign Het
Alb T C 5: 90,461,015 probably null Het
Apol9a T C 15: 77,404,742 T142A probably benign Het
Asb14 C T 14: 26,901,075 P135S possibly damaging Het
Asb17 A G 3: 153,850,676 Y140C probably damaging Het
Atp4a T A 7: 30,720,588 I750N probably damaging Het
Bard1 T C 1: 71,030,827 Y664C probably damaging Het
Cacnb3 G A 15: 98,632,381 probably benign Het
Card11 T A 5: 140,913,392 D9V possibly damaging Het
Casp8 A T 1: 58,833,653 Q229H possibly damaging Het
Ccdc88b T C 19: 6,855,845 E278G probably damaging Het
Cd209d CAT C 8: 3,873,772 probably null Het
Cep350 T C 1: 155,860,731 D2853G probably damaging Het
Cfap161 T C 7: 83,793,274 I110M probably benign Het
Chid1 T A 7: 141,513,765 K313* probably null Het
Col16a1 T A 4: 130,054,168 I227N unknown Het
D3Ertd751e G T 3: 41,746,563 E6* probably null Het
Ddx41 T C 13: 55,534,437 Q208R probably damaging Het
Dhrs13 G C 11: 78,032,666 R70P possibly damaging Het
Dmrta1 A T 4: 89,691,445 Q214L probably benign Het
Eif2ak4 T C 2: 118,462,284 F1330L possibly damaging Het
Fbxw13 C T 9: 109,194,764 V71I probably benign Het
Gm8882 G A 6: 132,364,088 T7I unknown Het
H2-Q2 T C 17: 35,343,362 L195P possibly damaging Het
Hemgn C T 4: 46,395,904 G444D probably damaging Het
Lmtk2 A G 5: 144,176,058 T1199A probably damaging Het
Ly75 T C 2: 60,334,485 D783G probably damaging Het
Micall1 G A 15: 79,127,310 A627T probably benign Het
Morc2a C T 11: 3,675,877 T159I probably benign Het
Mthfr C A 4: 148,041,818 N115K probably damaging Het
Muc1 G A 3: 89,231,514 V477M possibly damaging Het
Mug1 C T 6: 121,882,722 P1227S probably benign Het
Ogfod3 T A 11: 121,196,782 D163V possibly damaging Het
Olfr644 T A 7: 104,068,276 I252F probably damaging Het
Pcnx2 C T 8: 125,773,807 V1515I probably benign Het
Plat G T 8: 22,772,232 G91W probably damaging Het
Plscr3 G T 11: 69,848,012 G167C probably benign Het
Plxna4 T A 6: 32,163,444 K1670* probably null Het
Rab7 T C 6: 88,012,387 S34G probably damaging Het
Rnf157 C A 11: 116,347,065 A577S probably benign Het
Rnf213 C T 11: 119,468,894 S4371L Het
S1pr1 A T 3: 115,711,821 S375T probably benign Het
Spen T C 4: 141,488,003 N506S unknown Het
Sulf1 T A 1: 12,807,917 Y210N probably benign Het
Tenm4 C T 7: 96,905,941 P2618S probably benign Het
Tg A G 15: 66,684,042 N861S probably damaging Het
Ttc29 A G 8: 78,333,702 E417G possibly damaging Het
Tyw1 G A 5: 130,269,224 R202Q probably damaging Het
Ubxn7 T A 16: 32,367,411 probably benign Het
Vmn1r62 C A 7: 5,675,630 Y103* probably null Het
Zfp804b A T 5: 6,772,378 Y228* probably null 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
R4206:Acat3 UTSW 17 12927386 missense possibly damaging 0.67
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'- ACGGCCTCATCCTAACTGTG -3'
(R):5'- ACCATGGGACCAATTACTGTTTTG -3'

Sequencing Primer
(F):5'- GCCTCATCCTAACTGTGGCCTC -3'
(R):5'- TGAAAGTGCATGTACCCTGC -3'
Posted On 2021-04-30