Incidental Mutation 'R1839:Acat3'
ID 205646
Institutional Source Beutler Lab
Gene Symbol Acat3
Ensembl Gene ENSMUSG00000062480
Gene Name acetyl-Coenzyme A acetyltransferase 3
Synonyms ACTL
MMRRC Submission 045015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R1839 (G1)
Quality Score 94
Status Not validated
Chromosome 17
Chromosomal Location 12923833-12940402 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 12928606 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 175 (R175*)
Ref Sequence ENSEMBL: ENSMUSP00000125454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000089024] [ENSMUST00000151287] [ENSMUST00000160378]
AlphaFold Q80X81
Predicted Effect probably null
Transcript: ENSMUST00000043923
AA Change: R175*
SMART Domains Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: R175*

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

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

Pfam:Cpn60_TCP1 28 535 6.3e-156 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160378
AA Change: R175*
SMART Domains Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: R175*

Pfam:Thiolase_N 5 248 5.6e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160921
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.6%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,409,720 (GRCm38) T403A probably damaging Het
Adam1b C A 5: 121,501,041 (GRCm38) C647F probably damaging Het
Adam28 T C 14: 68,639,210 (GRCm38) N197S possibly damaging Het
Adcy2 C T 13: 68,689,261 (GRCm38) probably null Het
Adcy5 A T 16: 35,248,940 (GRCm38) N426I probably damaging Het
Adgre1 T C 17: 57,441,299 (GRCm38) S500P probably benign Het
Aloxe3 A G 11: 69,130,085 (GRCm38) Y212C probably damaging Het
Ap3d1 A G 10: 80,727,108 (GRCm38) S180P probably damaging Het
Arhgap20 C T 9: 51,849,326 (GRCm38) R790W probably damaging Het
Atp8b4 C A 2: 126,361,782 (GRCm38) A757S possibly damaging Het
Begain G A 12: 109,035,323 (GRCm38) probably benign Het
Ccdc141 T C 2: 77,011,665 (GRCm38) E1474G probably benign Het
Ccdc88b A G 19: 6,854,109 (GRCm38) probably benign Het
Ccnk A G 12: 108,195,074 (GRCm38) T195A probably damaging Het
Cd55b C A 1: 130,414,105 (GRCm38) C265F probably damaging Het
Celsr3 A G 9: 108,829,906 (GRCm38) H1196R probably benign Het
Cenpt T C 8: 105,849,014 (GRCm38) S190G possibly damaging Het
Chd8 T C 14: 52,204,883 (GRCm38) S2077G probably benign Het
Col6a5 G A 9: 105,864,833 (GRCm38) H2296Y probably benign Het
Cxxc4 C A 3: 134,240,653 (GRCm38) H332N probably damaging Het
Cyp24a1 T C 2: 170,496,741 (GRCm38) I12V probably benign Het
Cyp3a57 T A 5: 145,381,301 (GRCm38) L364Q probably damaging Het
Ddi2 T C 4: 141,713,526 (GRCm38) I47V probably benign Het
Ddx5 A T 11: 106,784,897 (GRCm38) D322E probably benign Het
Dhx40 A G 11: 86,789,297 (GRCm38) C405R possibly damaging Het
Emc1 T C 4: 139,360,485 (GRCm38) F100S probably damaging Het
Exoc2 T C 13: 30,906,497 (GRCm38) probably benign Het
Gm10110 A T 14: 89,897,836 (GRCm38) noncoding transcript Het
Gm17332 T C 11: 31,182,386 (GRCm38) H26R possibly damaging Het
Gna12 T C 5: 140,762,612 (GRCm38) N183S probably benign Het
Gpx6 A G 13: 21,312,327 (GRCm38) N24D probably benign Het
Gsdma3 C T 11: 98,629,858 (GRCm38) A105V probably benign Het
Hsd3b5 T C 3: 98,619,728 (GRCm38) Y134C probably benign Het
Ifi213 T C 1: 173,589,600 (GRCm38) I415M probably damaging Het
Ints9 C A 14: 65,016,530 (GRCm38) P278T probably damaging Het
Krt79 C T 15: 101,937,938 (GRCm38) E192K possibly damaging Het
Lrrk2 A G 15: 91,683,134 (GRCm38) N132S probably benign Het
Ltn1 T A 16: 87,416,264 (GRCm38) K470* probably null Het
Magi2 A T 5: 20,465,827 (GRCm38) T163S probably damaging Het
Mcm9 A G 10: 53,541,553 (GRCm38) M18T probably damaging Het
Med12l A G 3: 59,068,319 (GRCm38) T212A probably benign Het
Mfhas1 T C 8: 35,590,858 (GRCm38) L829P possibly damaging Het
Mgme1 T A 2: 144,279,487 (GRCm38) C288S probably benign Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myh7 T C 14: 54,973,180 (GRCm38) N1725S possibly damaging Het
Naa80 G A 9: 107,583,017 (GRCm38) R37H possibly damaging Het
Nme4 A T 17: 26,092,097 (GRCm38) W165R probably damaging Het
Nup205 T A 6: 35,219,714 (GRCm38) D1128E probably benign Het
Or2t48 A T 11: 58,529,373 (GRCm38) Y204* probably null Het
Or5ae2 T C 7: 84,856,548 (GRCm38) Y60H probably damaging Het
Pcdh1 T C 18: 38,199,485 (GRCm38) D155G possibly damaging Het
Pex12 A T 11: 83,297,822 (GRCm38) S116T probably damaging Het
Plekhh1 C T 12: 79,078,957 (GRCm38) probably benign Het
Plekhh3 A G 11: 101,163,600 (GRCm38) probably benign Het
Pnpt1 T C 11: 29,154,342 (GRCm38) M572T possibly damaging Het
Ppp1r12b T C 1: 134,837,981 (GRCm38) R667G probably benign Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,651,666 (GRCm38) probably benign Het
Rgs14 T C 13: 55,382,838 (GRCm38) probably benign Het
Rhbdf2 A T 11: 116,600,191 (GRCm38) V645E possibly damaging Het
Robo3 A G 9: 37,422,327 (GRCm38) V696A probably benign Het
Sall1 A G 8: 89,028,716 (GRCm38) F1212L possibly damaging Het
Sdc4 T C 2: 164,429,012 (GRCm38) E109G probably benign Het
Serpind1 G T 16: 17,342,992 (GRCm38) R462L probably damaging Het
Smad9 CTTT CTT 3: 54,789,179 (GRCm38) probably benign Het
Sstr4 C A 2: 148,395,533 (GRCm38) N21K probably benign Het
Tap1 C T 17: 34,188,109 (GRCm38) A77V possibly damaging Het
Thap4 T C 1: 93,750,287 (GRCm38) E259G probably benign Het
Thra A G 11: 98,756,143 (GRCm38) N30S probably benign Het
Tmem207 A T 16: 26,524,821 (GRCm38) V27E possibly damaging Het
Top3a A G 11: 60,753,888 (GRCm38) V305A probably damaging Het
Trim59 A T 3: 69,037,638 (GRCm38) I123K probably damaging Het
Ttn T C 2: 76,861,495 (GRCm38) probably benign Het
Ubac1 T A 2: 26,007,738 (GRCm38) E290V possibly damaging Het
Unc13b T C 4: 43,258,308 (GRCm38) probably benign Het
Uri1 A T 7: 37,967,389 (GRCm38) D206E probably benign Het
Utp4 A G 8: 106,913,454 (GRCm38) H465R probably benign Het
Uvssa T C 5: 33,389,752 (GRCm38) S221P probably benign Het
Vmn1r39 T C 6: 66,805,233 (GRCm38) probably null Het
Vps39 A T 2: 120,325,397 (GRCm38) L514H probably damaging Het
Vps72 G A 3: 95,119,218 (GRCm38) R158Q possibly damaging Het
Wdr59 T C 8: 111,485,340 (GRCm38) D366G probably benign Het
Zfp366 C A 13: 99,228,492 (GRCm38) Q54K probably damaging Het
Zfp523 T A 17: 28,194,993 (GRCm38) I34N probably damaging Het
Zfp974 G A 7: 27,910,356 (GRCm38) P648L possibly damaging Het
Other mutations in Acat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Acat3 APN 17 12,925,320 (GRCm38) missense probably benign
IGL02570:Acat3 APN 17 12,940,294 (GRCm38) missense probably benign
R1340:Acat3 UTSW 17 12,929,677 (GRCm38) splice site probably benign
R1747:Acat3 UTSW 17 12,924,808 (GRCm38) missense possibly damaging 0.49
R2126:Acat3 UTSW 17 12,927,407 (GRCm38) missense probably benign 0.00
R3758:Acat3 UTSW 17 12,927,467 (GRCm38) splice site probably benign
R3790:Acat3 UTSW 17 12,928,573 (GRCm38) nonsense probably null
R4206:Acat3 UTSW 17 12,927,386 (GRCm38) missense possibly damaging 0.67
R8714:Acat3 UTSW 17 12,928,629 (GRCm38) missense probably benign 0.09
R8931:Acat3 UTSW 17 12,928,518 (GRCm38) missense probably damaging 1.00
R8974:Acat3 UTSW 17 12,924,829 (GRCm38) missense probably damaging 0.97
R9053:Acat3 UTSW 17 12,928,515 (GRCm38) missense probably damaging 0.99
R9060:Acat3 UTSW 17 12,926,406 (GRCm38) missense
R9133:Acat3 UTSW 17 12,940,289 (GRCm38) missense probably benign
R9292:Acat3 UTSW 17 12,927,368 (GRCm38) missense probably benign 0.14
R9615:Acat3 UTSW 17 12,928,615 (GRCm38) nonsense probably null
Z1177:Acat3 UTSW 17 12,934,883 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-23