Incidental Mutation 'R8861:Acly'
ID 675670
Institutional Source Beutler Lab
Gene Symbol Acly
Ensembl Gene ENSMUSG00000020917
Gene Name ATP citrate lyase
Synonyms A730098H14Rik
MMRRC Submission 068740-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8861 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100367179-100418826 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 100375424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007131] [ENSMUST00000107389] [ENSMUST00000165111]
AlphaFold Q91V92
Predicted Effect probably benign
Transcript: ENSMUST00000007131
SMART Domains Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:ATP-grasp_2 6 207 2.4e-8 PFAM
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Pfam:CoA_binding 484 590 3.9e-14 PFAM
Pfam:Ligase_CoA 650 775 1.2e-16 PFAM
Pfam:Citrate_synt 868 1076 4.8e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107389
SMART Domains Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:Citrate_bind 244 421 1.7e-94 PFAM
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Pfam:CoA_binding 494 600 6.6e-15 PFAM
Pfam:Ligase_CoA 660 785 2.1e-16 PFAM
Pfam:Citrate_synt 879 1085 2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165111
SMART Domains Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:ATP-grasp_2 6 207 2.4e-8 PFAM
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Pfam:CoA_binding 484 590 3.9e-14 PFAM
Pfam:Ligase_CoA 650 775 1.2e-16 PFAM
Pfam:Citrate_synt 868 1076 4.8e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mutation of this gene results in embryonic lethality. Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI

All alleles(37) : Targeted(1) Gene trapped(35) Transgenic(1)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,396,642 (GRCm39) probably benign Het
Agap2 T G 10: 126,926,383 (GRCm39) V896G unknown Het
Agtpbp1 T C 13: 59,643,287 (GRCm39) Y724C probably damaging Het
Angpt4 A G 2: 151,767,373 (GRCm39) N135D probably damaging Het
Aox3 T A 1: 58,189,460 (GRCm39) I387K probably benign Het
Bysl T C 17: 47,917,884 (GRCm39) E103G probably benign Het
Cdcp3 A T 7: 130,861,690 (GRCm39) K1168* probably null Het
Chmp5 T A 4: 40,964,608 (GRCm39) V208E probably damaging Het
Chst9 T G 18: 15,585,630 (GRCm39) H311P possibly damaging Het
Cilk1 T A 9: 78,071,844 (GRCm39) N505K probably benign Het
Dcaf11 C A 14: 55,801,955 (GRCm39) Y235* probably null Het
Dlx5 A C 6: 6,878,233 (GRCm39) S266A probably benign Het
Dnah7b T A 1: 46,280,236 (GRCm39) S2722T possibly damaging Het
Drc1 G A 5: 30,521,839 (GRCm39) probably benign Het
En2 T A 5: 28,371,733 (GRCm39) I70N probably damaging Het
Fam72a T C 1: 131,466,656 (GRCm39) Y147H possibly damaging Het
Fermt2 A T 14: 45,697,466 (GRCm39) F628L possibly damaging Het
Fkrp T A 7: 16,544,749 (GRCm39) D371V probably damaging Het
Fmn1 T C 2: 113,195,149 (GRCm39) L283P unknown Het
Gm13271 G A 4: 88,673,366 (GRCm39) V88I probably benign Het
Gnmt G A 17: 47,037,618 (GRCm39) T120M probably damaging Het
H2-T22 A T 17: 36,353,290 (GRCm39) V10D possibly damaging Het
Hbs1l T A 10: 21,220,963 (GRCm39) probably benign Het
Igf2bp3 A C 6: 49,082,550 (GRCm39) M344R possibly damaging Het
Kdm1b T C 13: 47,217,582 (GRCm39) V347A probably benign Het
Klra17 A T 6: 129,851,865 (GRCm39) S2R probably damaging Het
Klri1 A G 6: 129,675,164 (GRCm39) S199P probably benign Het
Ltk T A 2: 119,590,094 (GRCm39) Q44L probably benign Het
Map3k20 C A 2: 72,219,811 (GRCm39) probably benign Het
Matn4 A T 2: 164,234,825 (GRCm39) Y549N Het
Mcoln3 T A 3: 145,845,159 (GRCm39) F452I probably damaging Het
Mipol1 T C 12: 57,352,802 (GRCm39) V47A probably benign Het
Msh4 A G 3: 153,607,105 (GRCm39) L145S probably benign Het
Myh11 A T 16: 14,064,646 (GRCm39) I224N Het
Nat8f1 A G 6: 85,887,444 (GRCm39) L172P probably damaging Het
Ncoa7 T A 10: 30,567,364 (GRCm39) K438I probably benign Het
Nr1h3 T G 2: 91,024,026 (GRCm39) probably benign Het
Nuggc T C 14: 65,847,484 (GRCm39) probably null Het
Or4b12 T C 2: 90,096,803 (GRCm39) probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or7h8 A T 9: 20,124,377 (GRCm39) H244L probably damaging Het
Pfn4 T A 12: 4,825,456 (GRCm39) Y98N probably benign Het
Ppp6r2 T G 15: 89,143,368 (GRCm39) C172G probably damaging Het
Ptprk A G 10: 28,446,186 (GRCm39) D979G probably damaging Het
Rbm28 A G 6: 29,152,284 (GRCm39) I329T probably damaging Het
Rnf144a T C 12: 26,389,343 (GRCm39) T33A probably damaging Het
Rnf145 A G 11: 44,445,984 (GRCm39) T273A probably damaging Het
Rnf213 G A 11: 119,333,062 (GRCm39) R2758H Het
Slc22a19 A T 19: 7,660,324 (GRCm39) M362K possibly damaging Het
Slc29a4 G C 5: 142,704,580 (GRCm39) R374P probably damaging Het
Slc43a1 A G 2: 84,691,748 (GRCm39) T528A possibly damaging Het
Sp3 A T 2: 72,801,630 (GRCm39) Y172N probably damaging Het
Srpra T A 9: 35,127,045 (GRCm39) M573K probably benign Het
Steap4 A G 5: 8,025,672 (GRCm39) I78V probably benign Het
Sulf2 A G 2: 165,974,606 (GRCm39) L26P possibly damaging Het
Taok2 T C 7: 126,470,615 (GRCm39) K738E probably damaging Het
Tcea3 G A 4: 135,981,810 (GRCm39) R56H probably damaging Het
Tcf20 A G 15: 82,736,726 (GRCm39) V1575A probably damaging Het
Togaram1 T G 12: 65,027,406 (GRCm39) S798R possibly damaging Het
Other mutations in Acly
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Acly APN 11 100,386,736 (GRCm39) missense probably benign 0.00
IGL01661:Acly APN 11 100,405,168 (GRCm39) splice site probably benign
IGL02349:Acly APN 11 100,410,505 (GRCm39) missense probably benign 0.01
IGL02792:Acly APN 11 100,369,236 (GRCm39) missense probably damaging 0.97
IGL03026:Acly APN 11 100,410,516 (GRCm39) missense possibly damaging 0.94
IGL03144:Acly APN 11 100,405,909 (GRCm39) missense possibly damaging 0.84
IGL03230:Acly APN 11 100,384,885 (GRCm39) missense probably damaging 0.99
IGL03266:Acly APN 11 100,374,578 (GRCm39) missense probably damaging 1.00
Coyote UTSW 11 100,370,081 (GRCm39) missense probably damaging 0.99
lupine UTSW 11 100,406,731 (GRCm39) missense probably damaging 1.00
P0014:Acly UTSW 11 100,375,430 (GRCm39) missense probably benign 0.03
R0195:Acly UTSW 11 100,403,800 (GRCm39) missense possibly damaging 0.56
R0319:Acly UTSW 11 100,395,808 (GRCm39) missense probably damaging 1.00
R0598:Acly UTSW 11 100,369,216 (GRCm39) missense probably damaging 1.00
R1115:Acly UTSW 11 100,370,081 (GRCm39) missense probably damaging 0.99
R1201:Acly UTSW 11 100,384,761 (GRCm39) missense probably damaging 1.00
R1498:Acly UTSW 11 100,374,627 (GRCm39) missense probably benign 0.27
R1593:Acly UTSW 11 100,372,581 (GRCm39) missense possibly damaging 0.74
R1804:Acly UTSW 11 100,406,731 (GRCm39) missense probably damaging 1.00
R1817:Acly UTSW 11 100,386,717 (GRCm39) missense probably benign 0.00
R1980:Acly UTSW 11 100,386,702 (GRCm39) missense possibly damaging 0.87
R1997:Acly UTSW 11 100,409,977 (GRCm39) missense probably damaging 1.00
R2125:Acly UTSW 11 100,414,322 (GRCm39) missense probably benign 0.01
R3001:Acly UTSW 11 100,395,053 (GRCm39) missense possibly damaging 0.91
R3002:Acly UTSW 11 100,395,053 (GRCm39) missense possibly damaging 0.91
R3003:Acly UTSW 11 100,395,053 (GRCm39) missense possibly damaging 0.91
R5194:Acly UTSW 11 100,414,372 (GRCm39) missense probably benign
R5509:Acly UTSW 11 100,405,805 (GRCm39) missense probably damaging 0.97
R5594:Acly UTSW 11 100,412,946 (GRCm39) splice site probably null
R6077:Acly UTSW 11 100,410,583 (GRCm39) missense probably benign
R6310:Acly UTSW 11 100,373,046 (GRCm39) missense possibly damaging 0.92
R7099:Acly UTSW 11 100,383,117 (GRCm39) splice site probably null
R7148:Acly UTSW 11 100,374,608 (GRCm39) missense possibly damaging 0.49
R7149:Acly UTSW 11 100,375,451 (GRCm39) missense probably damaging 1.00
R7349:Acly UTSW 11 100,412,817 (GRCm39) missense probably benign
R7450:Acly UTSW 11 100,370,101 (GRCm39) missense probably damaging 1.00
R7484:Acly UTSW 11 100,386,789 (GRCm39) missense probably damaging 1.00
R7687:Acly UTSW 11 100,395,680 (GRCm39) critical splice donor site probably null
R7728:Acly UTSW 11 100,410,513 (GRCm39) missense probably benign 0.06
R7728:Acly UTSW 11 100,407,623 (GRCm39) missense probably damaging 1.00
R7750:Acly UTSW 11 100,368,839 (GRCm39) critical splice donor site probably null
R8042:Acly UTSW 11 100,405,151 (GRCm39) missense probably damaging 1.00
R8221:Acly UTSW 11 100,410,576 (GRCm39) missense probably damaging 1.00
R8407:Acly UTSW 11 100,384,897 (GRCm39) missense possibly damaging 0.67
R8677:Acly UTSW 11 100,410,569 (GRCm39) missense probably damaging 0.96
R8721:Acly UTSW 11 100,412,806 (GRCm39) critical splice donor site probably null
R8894:Acly UTSW 11 100,407,639 (GRCm39) missense probably benign 0.21
R9171:Acly UTSW 11 100,407,657 (GRCm39) missense probably benign
R9622:Acly UTSW 11 100,395,785 (GRCm39) missense probably damaging 1.00
R9632:Acly UTSW 11 100,389,072 (GRCm39) missense probably damaging 1.00
R9729:Acly UTSW 11 100,407,711 (GRCm39) missense probably benign 0.00
R9784:Acly UTSW 11 100,389,112 (GRCm39) missense probably benign 0.03
X0028:Acly UTSW 11 100,386,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGCCTCAGAAACCAAAC -3'
(R):5'- TGACCAGCCTAGTAAAGTTGC -3'

Sequencing Primer
(F):5'- GGTTTAACACCAGCCTCATTGG -3'
(R):5'- GACCAGCCTAGTAAAGTTGCTGTTC -3'
Posted On 2021-07-15