Incidental Mutation 'R0598:Acly'
ID 55176
Institutional Source Beutler Lab
Gene Symbol Acly
Ensembl Gene ENSMUSG00000020917
Gene Name ATP citrate lyase
Synonyms A730098H14Rik
MMRRC Submission 038787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0598 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100367179-100418826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100369216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1014 (N1014K)
Ref Sequence ENSEMBL: ENSMUSP00000127632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007131] [ENSMUST00000107389] [ENSMUST00000165111]
AlphaFold Q91V92
Predicted Effect probably damaging
Transcript: ENSMUST00000007131
AA Change: N1014K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: N1014K

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 damaging
Transcript: ENSMUST00000107389
AA Change: N1024K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: N1024K

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 noncoding transcript
Transcript: ENSMUST00000152969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154151
Predicted Effect probably damaging
Transcript: ENSMUST00000165111
AA Change: N1014K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: N1014K

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 noncoding transcript
Transcript: ENSMUST00000195956
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,681 (GRCm39) E198D possibly damaging Het
Abca6 A T 11: 110,087,980 (GRCm39) I1049N probably damaging Het
Aoc1l1 A G 6: 48,952,471 (GRCm39) E132G probably benign Het
Aph1c A T 9: 66,740,601 (GRCm39) W42R probably damaging Het
Bptf G T 11: 106,963,791 (GRCm39) T1738K probably damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Cpt2 G T 4: 107,764,135 (GRCm39) T543N probably damaging Het
Cstdc7 T A 18: 42,306,436 (GRCm39) M1K probably null Het
Dnah9 T C 11: 66,009,703 (GRCm39) E728G probably benign Het
Itgbl1 A G 14: 124,094,848 (GRCm39) H167R possibly damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
L3mbtl4 T G 17: 68,766,768 (GRCm39) D158E probably benign Het
Lrp8 A C 4: 107,714,434 (GRCm39) I603L possibly damaging Het
Lypd8l G A 11: 58,499,230 (GRCm39) S196L probably benign Het
Mrps9 C T 1: 42,944,577 (GRCm39) T365I probably damaging Het
Or1a1 A T 11: 74,086,658 (GRCm39) T110S possibly damaging Het
Or1e1 G T 11: 73,244,729 (GRCm39) R50L probably benign Het
Or2y1d A G 11: 49,322,230 (GRCm39) D309G probably benign Het
Padi1 C A 4: 140,542,098 (GRCm39) R608L possibly damaging Het
Pkhd1 A T 1: 20,271,114 (GRCm39) F3146L probably damaging Het
Rnf145 T C 11: 44,439,770 (GRCm39) S189P probably damaging Het
Sez6 G T 11: 77,868,647 (GRCm39) D974Y possibly damaging Het
St3gal3 A T 4: 117,964,829 (GRCm39) L11Q probably benign Het
Syt14 T C 1: 192,579,622 (GRCm39) E554G probably damaging Het
Tectb G T 19: 55,178,018 (GRCm39) E170* probably null Het
Themis2 A T 4: 132,516,994 (GRCm39) C169S possibly damaging Het
Tmem88b A T 4: 155,868,824 (GRCm39) D141E probably benign Het
Uaca T A 9: 60,778,203 (GRCm39) Y685* probably null Het
Vsnl1 T C 12: 11,436,860 (GRCm39) S40G probably benign Het
Vxn T G 1: 9,690,067 (GRCm39) I98S probably benign Het
Wdr64 A T 1: 175,633,465 (GRCm39) Q905H probably 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
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
R8861:Acly UTSW 11 100,375,424 (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'- GAGAGCAGTTCTAGTTCCAAAGCGG -3'
(R):5'- TGACAAATGCCTGGCAGGTCAC -3'

Sequencing Primer
(F):5'- TTCTAGTTCCAAAGCGGAAAAAGTG -3'
(R):5'- GTGACTAACAGTGAAGACATCAGGA -3'
Posted On 2013-07-11