Incidental Mutation 'R5594:Acly'
ID 437716
Institutional Source Beutler Lab
Gene Symbol Acly
Ensembl Gene ENSMUSG00000020917
Gene Name ATP citrate lyase
Synonyms A730098H14Rik
MMRRC Submission 043146-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5594 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100367179-100418826 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 100412946 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 null
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: 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 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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 100% (80/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
4931414P19Rik A G 14: 54,822,441 (GRCm39) Y399H probably damaging Het
Abca9 G T 11: 110,035,688 (GRCm39) P644Q probably damaging Het
Adamts14 A T 10: 61,062,880 (GRCm39) probably null Het
Ankdd1a T C 9: 65,409,523 (GRCm39) N471S probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgef28 T C 13: 98,076,000 (GRCm39) T1345A probably benign Het
Arhgef40 T A 14: 52,233,614 (GRCm39) L820H probably damaging Het
Atp2b4 A G 1: 133,658,248 (GRCm39) V554A probably damaging Het
Birc7 G A 2: 180,575,129 (GRCm39) probably null Het
Ccdc80 C T 16: 44,936,626 (GRCm39) R684C probably benign Het
Cdc25b C A 2: 131,033,538 (GRCm39) P159Q probably damaging Het
Cdcp3 T A 7: 130,841,252 (GRCm39) D647E probably benign Het
Chek2 G T 5: 111,003,700 (GRCm39) probably null Het
Chil6 C T 3: 106,301,745 (GRCm39) probably null Het
Cr2 A G 1: 194,839,498 (GRCm39) I643T probably damaging Het
Cwf19l2 C A 9: 3,418,773 (GRCm39) Q187K probably benign Het
Cyth4 A G 15: 78,491,275 (GRCm39) probably null Het
Depdc5 A G 5: 33,058,834 (GRCm39) T268A possibly damaging Het
Dnah17 G T 11: 117,934,055 (GRCm39) probably null Het
Dnah3 T C 7: 119,570,844 (GRCm39) Y2210C possibly damaging Het
Elmod3 G A 6: 72,571,799 (GRCm39) probably benign Het
Eogt T A 6: 97,092,996 (GRCm39) T394S probably benign Het
Evi5 A G 5: 107,968,317 (GRCm39) V182A possibly damaging Het
Fbxo30 T C 10: 11,166,223 (GRCm39) I315T probably benign Het
Fibcd1 T C 2: 31,728,629 (GRCm39) N76S probably damaging Het
Gcc2 G T 10: 58,123,064 (GRCm39) R1190M probably damaging Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Gm11543 T A 11: 94,719,380 (GRCm39) noncoding transcript Het
Hhip G T 8: 80,723,492 (GRCm39) D387E probably damaging Het
Hif1a T A 12: 73,984,566 (GRCm39) Y46* probably null Het
Hivep3 G T 4: 119,980,245 (GRCm39) probably null Het
Kif13a T A 13: 46,906,338 (GRCm39) E535V probably damaging Het
Lrch3 T C 16: 32,734,554 (GRCm39) Y15H probably damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Lyst T A 13: 13,933,982 (GRCm39) V3560E probably benign Het
Megf11 T C 9: 64,593,755 (GRCm39) F613L probably damaging Het
Misp G A 10: 79,662,977 (GRCm39) V465M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ms4a6c T A 19: 11,455,537 (GRCm39) D115E probably benign Het
Msh6 A G 17: 88,293,497 (GRCm39) T751A probably benign Het
Ntrk3 T A 7: 78,101,647 (GRCm39) T429S probably benign Het
Oplah A C 15: 76,180,837 (GRCm39) *1289G probably null Het
Or14j7 T A 17: 38,234,502 (GRCm39) M15K probably benign Het
Or7e166 T C 9: 19,624,302 (GRCm39) Y60H probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhga6 A T 18: 37,841,581 (GRCm39) T434S probably benign Het
Pign A G 1: 105,574,594 (GRCm39) probably benign Het
Poteg A T 8: 27,937,996 (GRCm39) I51F probably benign Het
Prrc2c C A 1: 162,526,600 (GRCm39) V204F unknown Het
Rhbdd3 T C 11: 5,055,710 (GRCm39) S325P probably damaging Het
Rit1 T A 3: 88,636,444 (GRCm39) L116Q probably damaging Het
Rpl22 T A 4: 152,410,259 (GRCm39) probably benign Het
Rttn A G 18: 89,108,560 (GRCm39) E1588G possibly damaging Het
Sardh A G 2: 27,110,735 (GRCm39) F577S probably damaging Het
Slc12a7 T A 13: 73,933,258 (GRCm39) D105E probably benign Het
Slc22a23 T A 13: 34,489,240 (GRCm39) D215V probably damaging Het
Slc4a8 C A 15: 100,693,768 (GRCm39) P438T probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Stk19 C T 17: 35,039,538 (GRCm39) probably benign Het
Stx5a T C 19: 8,725,829 (GRCm39) I143T probably damaging Het
Tep1 T C 14: 51,067,339 (GRCm39) H2232R possibly damaging Het
Trmt9b A G 8: 36,979,452 (GRCm39) T352A probably benign Het
Ttc21b A G 2: 66,066,579 (GRCm39) I358T probably benign Het
Tuba8 A G 6: 121,202,863 (GRCm39) D392G possibly damaging Het
Vmn1r1 G A 1: 181,984,972 (GRCm39) P231L probably damaging Het
Zfp330 A G 8: 83,493,941 (GRCm39) W107R probably damaging Het
Zfp715 T A 7: 42,949,116 (GRCm39) Q281H possibly damaging Het
Zfp9 T C 6: 118,442,000 (GRCm39) T221A probably damaging Het
Zgpat T C 2: 181,007,420 (GRCm39) probably benign 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
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'- AGGTTATGAGCCATCGGTTG -3'
(R):5'- TTATTCAGCAGATGTCTCGGCAG -3'

Sequencing Primer
(F):5'- AGAGGTCACCATGTTGTTTCTTAC -3'
(R):5'- CAGATGTCTCGGCAGTGTCTAC -3'
Posted On 2016-10-26