Incidental Mutation 'IGL01767:Acaca'
ID153356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acaca
Ensembl Gene ENSMUSG00000020532
Gene Nameacetyl-Coenzyme A carboxylase alpha
SynonymsLOC327983, Acac, A530025K05Rik, acetyl-CoA carboxylase, Acc1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01767
Quality Score
Status
Chromosome11
Chromosomal Location84129672-84401651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84320542 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1560 (Y1560F)
Ref Sequence ENSEMBL: ENSMUSP00000099490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201]
Predicted Effect probably benign
Transcript: ENSMUST00000020843
AA Change: Y1560F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: Y1560F

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 116 236 4.7e-33 PFAM
Pfam:CPSase_L_D2 272 472 2.5e-55 PFAM
Pfam:ATP-grasp 280 443 4.3e-7 PFAM
Pfam:ATP-grasp_4 282 442 1.9e-11 PFAM
Pfam:Dala_Dala_lig_C 284 440 5.4e-7 PFAM
Biotin_carb_C 506 613 3.76e-24 SMART
low complexity region 708 725 N/A INTRINSIC
Pfam:Biotin_lipoyl 751 817 9.8e-19 PFAM
Pfam:ACC_central 818 1568 2.1e-288 PFAM
Pfam:Carboxyl_trans 1668 2222 1.6e-185 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103201
AA Change: Y1560F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: Y1560F

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 116 236 6.7e-29 PFAM
Pfam:ATP-grasp_4 239 442 2e-15 PFAM
Pfam:CPSase_L_D2 272 472 3.3e-55 PFAM
Pfam:Dala_Dala_lig_C 279 440 3e-7 PFAM
Pfam:ATP-grasp 281 442 1.1e-6 PFAM
Biotin_carb_C 506 613 3.76e-24 SMART
low complexity region 708 725 N/A INTRINSIC
Pfam:Biotin_lipoyl 751 817 3.7e-18 PFAM
Pfam:ACC_central 818 1568 3.5e-253 PFAM
Pfam:Carboxyl_trans 1668 2222 2.7e-175 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality before embryo turning with growth arrest at the egg cylinder stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,041,363 V4505A probably benign Het
Aadat A T 8: 60,507,092 D31V probably damaging Het
Actl7a A G 4: 56,743,980 E169G probably damaging Het
Adgrb3 A G 1: 25,559,814 V270A probably benign Het
Adgre4 G A 17: 55,797,740 V269I probably benign Het
Ankhd1 A G 18: 36,648,374 T2160A probably damaging Het
Bnip2 T A 9: 70,002,116 probably benign Het
Casp16-ps A G 17: 23,552,053 V126A probably damaging Het
Ccser1 C A 6: 61,718,152 T157K probably benign Het
Cdh23 A G 10: 60,315,724 S2459P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chmp6 G A 11: 119,916,986 E72K probably benign Het
Cldn23 T C 8: 35,825,662 Y224C probably damaging Het
Cry1 C T 10: 85,146,474 G336D probably damaging Het
Cyp4f17 T A 17: 32,506,982 F30I probably benign Het
Dgcr8 T A 16: 18,278,336 D496V probably damaging Het
Dhx9 A G 1: 153,468,868 probably benign Het
Dnah10 C T 5: 124,743,737 probably benign Het
Dock9 T C 14: 121,622,870 E880G possibly damaging Het
Dscam A G 16: 96,654,936 V1264A probably damaging Het
Eno1 T C 4: 150,246,710 Y270H probably benign Het
Eprs A G 1: 185,384,915 D385G probably damaging Het
Ercc2 A G 7: 19,390,421 Y215C probably damaging Het
Fam208b G A 13: 3,576,633 P1106S probably benign Het
Fscn2 A G 11: 120,367,750 N400S possibly damaging Het
Fuca1 C T 4: 135,939,201 T449I probably benign Het
Gm43638 T C 5: 87,465,431 K492E probably damaging Het
Gm4778 T A 3: 94,266,484 D262E probably benign Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm8122 T C 14: 43,232,701 T111A unknown Het
Gtf3c2 T A 5: 31,157,635 N923Y probably benign Het
Il17a T A 1: 20,733,640 D86E probably benign Het
Itgb2l G T 16: 96,430,575 N330K probably benign Het
Kcnj11 T C 7: 46,099,065 H278R probably benign Het
Khdrbs2 T A 1: 32,619,176 Y272* probably null Het
Kndc1 A T 7: 139,930,046 Q1267L probably damaging Het
Loxhd1 T A 18: 77,286,424 F64I possibly damaging Het
Lrig2 T A 3: 104,491,545 K222N probably benign Het
Lrrcc1 T A 3: 14,547,272 Y378N probably damaging Het
Mblac2 T C 13: 81,750,315 L270P probably damaging Het
Med13 A T 11: 86,319,783 I511N probably benign Het
Myo3a A T 2: 22,423,222 E763D probably damaging Het
Olfr1240 C T 2: 89,439,800 V160I probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1447 T A 19: 12,901,748 T11S probably benign Het
Olfr384 T A 11: 73,603,032 F151I probably benign Het
Olfr845 G A 9: 19,339,302 V281I possibly damaging Het
Plxna4 T A 6: 32,237,678 I623F possibly damaging Het
Ppp2ca T A 11: 52,118,055 Y127* probably null Het
Psg18 A G 7: 18,353,397 V112A possibly damaging Het
Ptprj A T 2: 90,469,574 N108K probably benign Het
Rictor A G 15: 6,777,384 Y707C probably damaging Het
Rptn T C 3: 93,395,639 F93S probably benign Het
Rxrg T A 1: 167,627,315 C156S probably damaging Het
Slc24a4 T C 12: 102,223,687 probably benign Het
Slc25a27 C T 17: 43,664,073 probably null Het
Slx4 T C 16: 3,990,248 K481E probably benign Het
Snx19 T C 9: 30,463,264 W940R possibly damaging Het
Tcf20 G A 15: 82,856,008 P414L probably damaging Het
Treml2 T C 17: 48,302,810 V90A probably benign Het
Uckl1 C T 2: 181,569,534 V501M probably damaging Het
Unc79 C T 12: 103,141,997 T1937I probably damaging Het
Vmn2r17 A T 5: 109,420,037 I9F probably benign Het
Vmn2r44 T C 7: 8,380,238 H119R probably benign Het
Vmn2r78 A G 7: 86,954,435 D607G probably benign Het
Vps13a C T 19: 16,663,894 G2288D probably damaging Het
Znfx1 G T 2: 167,055,723 T427N probably damaging Het
Other mutations in Acaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Acaca APN 11 84278917 missense probably damaging 1.00
IGL01134:Acaca APN 11 84251279 missense probably benign 0.22
IGL01446:Acaca APN 11 84260631 missense probably damaging 1.00
IGL01591:Acaca APN 11 84243320 missense probably damaging 1.00
IGL01663:Acaca APN 11 84277802 missense possibly damaging 0.85
IGL02206:Acaca APN 11 84260747 nonsense probably null
IGL02335:Acaca APN 11 84214258 missense possibly damaging 0.84
IGL02477:Acaca APN 11 84307168 splice site probably benign
IGL02515:Acaca APN 11 84262403 missense probably benign
IGL02651:Acaca APN 11 84245204 splice site probably benign
IGL02805:Acaca APN 11 84223133 splice site probably benign
IGL03328:Acaca APN 11 84320529 missense probably benign 0.00
ANU05:Acaca UTSW 11 84315852 missense probably damaging 1.00
R0385:Acaca UTSW 11 84231748 missense probably benign 0.01
R0518:Acaca UTSW 11 84290286 critical splice acceptor site probably null
R0536:Acaca UTSW 11 84280516 splice site probably benign
R0962:Acaca UTSW 11 84311303 missense probably damaging 1.00
R0968:Acaca UTSW 11 84239033 nonsense probably null
R1123:Acaca UTSW 11 84264080 missense probably benign 0.09
R1452:Acaca UTSW 11 84295059 splice site probably benign
R1478:Acaca UTSW 11 84372627 missense probably damaging 1.00
R1500:Acaca UTSW 11 84293984 missense probably benign 0.00
R1512:Acaca UTSW 11 84195469 missense probably benign 0.00
R1657:Acaca UTSW 11 84264084 missense probably benign 0.09
R1681:Acaca UTSW 11 84226185 missense probably damaging 1.00
R1682:Acaca UTSW 11 84392217 missense probably benign 0.23
R1688:Acaca UTSW 11 84238896 missense probably damaging 1.00
R1755:Acaca UTSW 11 84276564 frame shift probably null
R1775:Acaca UTSW 11 84300422 missense possibly damaging 0.56
R1793:Acaca UTSW 11 84315969 missense probably damaging 0.98
R1793:Acaca UTSW 11 84338393 missense probably damaging 1.00
R1855:Acaca UTSW 11 84371554 missense probably damaging 0.96
R1881:Acaca UTSW 11 84270387 nonsense probably null
R1881:Acaca UTSW 11 84300471 splice site probably benign
R1989:Acaca UTSW 11 84262529 missense probably damaging 0.98
R2147:Acaca UTSW 11 84276536 missense probably benign 0.03
R2215:Acaca UTSW 11 84363793 missense probably damaging 1.00
R2238:Acaca UTSW 11 84391505 splice site probably benign
R2252:Acaca UTSW 11 84371532 missense probably damaging 0.99
R2316:Acaca UTSW 11 84264080 missense probably benign 0.16
R2316:Acaca UTSW 11 84294983 missense possibly damaging 0.69
R2337:Acaca UTSW 11 84257197 missense possibly damaging 0.93
R2697:Acaca UTSW 11 84364413 missense probably damaging 1.00
R3551:Acaca UTSW 11 84261624 missense probably damaging 1.00
R3552:Acaca UTSW 11 84261624 missense probably damaging 1.00
R3748:Acaca UTSW 11 84311409 unclassified probably null
R3844:Acaca UTSW 11 84364413 missense probably damaging 1.00
R3873:Acaca UTSW 11 84312721 unclassified probably benign
R4152:Acaca UTSW 11 84292926 missense possibly damaging 0.88
R4406:Acaca UTSW 11 84280449 missense probably benign 0.35
R4448:Acaca UTSW 11 84262492 missense probably damaging 1.00
R4642:Acaca UTSW 11 84280461 missense probably damaging 1.00
R4696:Acaca UTSW 11 84280435 missense possibly damaging 0.78
R4707:Acaca UTSW 11 84312854 missense probably damaging 0.96
R4710:Acaca UTSW 11 84392337 missense possibly damaging 0.84
R4775:Acaca UTSW 11 84243339 missense probably damaging 1.00
R4821:Acaca UTSW 11 84294987 missense possibly damaging 0.69
R4883:Acaca UTSW 11 84251290 missense probably benign 0.01
R4988:Acaca UTSW 11 84263295 missense probably damaging 1.00
R5034:Acaca UTSW 11 84245264 missense probably benign 0.00
R5255:Acaca UTSW 11 84311307 missense probably damaging 1.00
R5294:Acaca UTSW 11 84391519 missense probably benign 0.01
R5350:Acaca UTSW 11 84215873 missense probably damaging 0.99
R5437:Acaca UTSW 11 84346820 splice site probably null
R5664:Acaca UTSW 11 84243384 missense probably damaging 1.00
R5665:Acaca UTSW 11 84245294 nonsense probably null
R5959:Acaca UTSW 11 84215966 missense probably damaging 1.00
R6011:Acaca UTSW 11 84245744 missense probably benign 0.44
R6027:Acaca UTSW 11 84398177 missense probably benign
R6246:Acaca UTSW 11 84315970 missense probably benign 0.08
R6313:Acaca UTSW 11 84292929 missense probably benign 0.00
R6450:Acaca UTSW 11 84280468 missense probably damaging 0.98
R6623:Acaca UTSW 11 84371499 critical splice acceptor site probably null
R6736:Acaca UTSW 11 84238838 missense probably benign 0.05
R6752:Acaca UTSW 11 84195483 missense probably benign 0.44
R6807:Acaca UTSW 11 84391530 missense probably benign
R6826:Acaca UTSW 11 84195536 missense probably damaging 1.00
X0027:Acaca UTSW 11 84292895 missense probably benign 0.01
X0060:Acaca UTSW 11 84264104 missense probably benign
X0067:Acaca UTSW 11 84368737 nonsense probably null
Posted On2014-02-04