Incidental Mutation 'IGL01661:Acly'
ID 103179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acly
Ensembl Gene ENSMUSG00000020917
Gene Name ATP citrate lyase
Synonyms A730098H14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01661
Quality Score
Status
Chromosome 11
Chromosomal Location 100367179-100418826 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 100405168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007131] [ENSMUST00000107385] [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 benign
Transcript: ENSMUST00000107385
SMART Domains Protein: ENSMUSP00000103008
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:ATP-grasp_2 6 207 2.1e-6 PFAM
SCOP:d1eucb1 255 417 1e-26 SMART
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Predicted Effect probably benign
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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,007 (GRCm39) F1569L probably benign Het
Adgre5 T A 8: 84,454,564 (GRCm39) N313I probably damaging Het
Ccdc17 A G 4: 116,455,063 (GRCm39) H206R probably benign Het
Cenpo C T 12: 4,284,023 (GRCm39) probably null Het
Galnt5 G T 2: 57,889,494 (GRCm39) A365S probably benign Het
Josd1 G A 15: 79,561,328 (GRCm39) P160L probably damaging Het
Lamc1 C A 1: 153,097,319 (GRCm39) R1575L possibly damaging Het
Mrpl32 C T 13: 14,785,178 (GRCm39) V153I probably benign Het
Mtor A G 4: 148,599,308 (GRCm39) K1452R possibly damaging Het
Nob1 T C 8: 108,139,814 (GRCm39) Y315C probably damaging Het
Or4c58 T A 2: 89,674,439 (GRCm39) M293L probably benign Het
Or8k28 T C 2: 86,285,846 (GRCm39) I256M possibly damaging Het
Prex2 A G 1: 11,278,838 (GRCm39) N1389S probably benign Het
Ptprd G A 4: 75,872,320 (GRCm39) T1383M probably damaging Het
Ralbp1 A G 17: 66,168,384 (GRCm39) L307P probably damaging Het
Sema4f A G 6: 82,895,036 (GRCm39) probably benign Het
Slc2a3 A G 6: 122,706,915 (GRCm39) V486A probably benign Het
Spock2 T A 10: 59,959,692 (GRCm39) H140Q probably damaging Het
Tmc4 A G 7: 3,669,926 (GRCm39) I610T probably damaging Het
Tnc T C 4: 63,888,544 (GRCm39) probably benign Het
Ttll8 T C 15: 88,820,202 (GRCm39) probably benign Het
Other mutations in Acly
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Acly APN 11 100,386,736 (GRCm39) missense probably benign 0.00
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
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
Posted On 2014-01-21