Incidental Mutation 'R6246:Acaca'
ID 505795
Institutional Source Beutler Lab
Gene Symbol Acaca
Ensembl Gene ENSMUSG00000020532
Gene Name acetyl-Coenzyme A carboxylase alpha
Synonyms Acc1, LOC327983, Acac, acetyl-CoA carboxylase, A530025K05Rik
MMRRC Submission 044436-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6246 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 84020498-84292477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84206796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1552 (T1552K)
Ref Sequence ENSEMBL: ENSMUSP00000099490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201] [ENSMUST00000183887]
AlphaFold Q5SWU9
Predicted Effect probably benign
Transcript: ENSMUST00000020843
AA Change: T1552K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: T1552K

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: T1552K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: T1552K

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
Predicted Effect probably benign
Transcript: ENSMUST00000183887
SMART Domains Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532

DomainStartEndE-ValueType
Pfam:ACC_central 1 228 8.6e-57 PFAM
Meta Mutation Damage Score 0.0828 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (78/78)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,850,999 (GRCm39) V2110E probably damaging Het
Aknad1 A G 3: 108,659,148 (GRCm39) D54G probably damaging Het
Ano1 T C 7: 144,187,462 (GRCm39) T435A possibly damaging Het
Azgp1 A G 5: 137,983,475 (GRCm39) D50G possibly damaging Het
Bbx A G 16: 50,045,023 (GRCm39) S513P probably benign Het
Ccdc85a C T 11: 28,526,897 (GRCm39) S209N probably damaging Het
Cdca2 T A 14: 67,915,277 (GRCm39) R661* probably null Het
Cdhr2 T C 13: 54,867,523 (GRCm39) V451A probably damaging Het
Cenpt C T 8: 106,575,891 (GRCm39) G152S possibly damaging Het
Chd9 A G 8: 91,659,045 (GRCm39) T2A probably damaging Het
Chst14 G A 2: 118,757,482 (GRCm39) C117Y probably damaging Het
Cic C T 7: 24,971,067 (GRCm39) T266M probably damaging Het
Clec12a A T 6: 129,330,733 (GRCm39) N105I possibly damaging Het
Cmah G A 13: 24,650,773 (GRCm39) V525M probably damaging Het
Cplane1 T A 15: 8,239,498 (GRCm39) L1233H probably damaging Het
Cpt1a T C 19: 3,426,550 (GRCm39) L572P probably damaging Het
Crybg2 T C 4: 133,816,657 (GRCm39) L1365P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg1 G A 16: 31,484,468 (GRCm39) S32N probably benign Het
Dnah14 T C 1: 181,508,453 (GRCm39) I1877T probably benign Het
Duox1 G T 2: 122,157,655 (GRCm39) G594C probably damaging Het
Eci2 T C 13: 35,174,181 (GRCm39) N127D probably damaging Het
Ecpas A G 4: 58,811,365 (GRCm39) probably null Het
Fat4 T C 3: 38,945,870 (GRCm39) S1588P probably damaging Het
Fer1l4 T A 2: 155,866,902 (GRCm39) I1489F probably damaging Het
Flrt3 A G 2: 140,501,721 (GRCm39) Y636H probably damaging Het
Frmd5 T A 2: 121,381,529 (GRCm39) H62L possibly damaging Het
Gm6309 A T 5: 146,107,050 (GRCm39) Y99N probably damaging Het
Gm8225 T C 17: 26,762,652 (GRCm39) V281A probably benign Het
Grep1 C A 17: 23,929,465 (GRCm39) G315* probably null Het
Grsf1 A G 5: 88,810,451 (GRCm39) L353P possibly damaging Het
Gtf2a1l A G 17: 88,978,975 (GRCm39) R58G probably benign Het
Guf1 G A 5: 69,715,898 (GRCm39) G113R probably damaging Het
Hfe A T 13: 23,892,212 (GRCm39) F51I probably damaging Het
Hibch T C 1: 52,943,801 (GRCm39) S250P probably damaging Het
Il1rap T A 16: 26,533,631 (GRCm39) M509K probably benign Het
Il4ra T C 7: 125,175,577 (GRCm39) V595A probably benign Het
Ints11 A G 4: 155,972,546 (GRCm39) T460A probably benign Het
Itprid1 A T 6: 55,944,657 (GRCm39) K459N probably damaging Het
Kdm5a G A 6: 120,408,871 (GRCm39) G1518E probably damaging Het
Khsrp T C 17: 57,332,324 (GRCm39) D289G possibly damaging Het
Kif14 C T 1: 136,404,162 (GRCm39) Q29* probably null Het
Krt72 T C 15: 101,689,372 (GRCm39) K320R probably damaging Het
Lcmt2 A G 2: 120,970,870 (GRCm39) L71P probably damaging Het
Lmo7 A T 14: 102,156,136 (GRCm39) D1037V probably damaging Het
Lpo T C 11: 87,713,058 (GRCm39) T15A unknown Het
Mia3 G T 1: 183,126,720 (GRCm39) T7N probably damaging Het
Muc16 A T 9: 18,488,363 (GRCm39) probably null Het
Mup9 T A 4: 60,375,809 (GRCm39) Y29F probably damaging Het
Nisch T C 14: 30,894,516 (GRCm39) D1105G probably damaging Het
Odad1 A G 7: 45,585,788 (GRCm39) I116V probably damaging Het
Oip5 T C 2: 119,446,101 (GRCm39) T136A probably benign Het
Or2a52 G A 6: 43,144,436 (GRCm39) probably null Het
Osbpl10 C A 9: 115,055,842 (GRCm39) N532K probably benign Het
P2ry12 C T 3: 59,124,950 (GRCm39) V242I probably benign Het
Pdhx A T 2: 102,877,137 (GRCm39) C26S probably damaging Het
Pgk2 A T 17: 40,518,315 (GRCm39) I371K probably damaging Het
Phyhip T C 14: 70,704,495 (GRCm39) V238A probably damaging Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Pld5 A T 1: 175,791,475 (GRCm39) C448* probably null Het
Plk1 T A 7: 121,768,659 (GRCm39) I553N probably damaging Het
Ppp1r13l T A 7: 19,103,783 (GRCm39) I88K probably benign Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Septin7 A G 9: 25,218,817 (GRCm39) E428G probably benign Het
Serpina3j G A 12: 104,283,706 (GRCm39) G268D probably damaging Het
Smc2 A T 4: 52,460,289 (GRCm39) D555V probably damaging Het
Spag16 A T 1: 69,962,980 (GRCm39) I376F probably benign Het
Spag6 G A 2: 18,703,906 (GRCm39) probably null Het
Tecta T C 9: 42,289,204 (GRCm39) I454V probably benign Het
Tlcd3b T A 7: 126,426,668 (GRCm39) F30L probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Traf5 C T 1: 191,754,853 (GRCm39) E28K probably damaging Het
Trav23 G A 14: 54,214,885 (GRCm39) E33K probably damaging Het
Trim32 T C 4: 65,532,801 (GRCm39) S453P probably damaging Het
Tssk1 A G 16: 17,713,303 (GRCm39) T363A probably benign Het
Txnrd3 A G 6: 89,628,523 (GRCm39) N88S probably benign Het
Unc13b A G 4: 43,216,246 (GRCm39) S182G probably benign Het
Vmn2r89 A T 14: 51,693,503 (GRCm39) R284S probably damaging Het
Zbtb14 A G 17: 69,694,478 (GRCm39) T59A possibly damaging Het
Zcchc2 T A 1: 105,957,796 (GRCm39) S756T possibly damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Acaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Acaca APN 11 84,169,743 (GRCm39) missense probably damaging 1.00
IGL01134:Acaca APN 11 84,142,105 (GRCm39) missense probably benign 0.22
IGL01446:Acaca APN 11 84,151,457 (GRCm39) missense probably damaging 1.00
IGL01591:Acaca APN 11 84,134,146 (GRCm39) missense probably damaging 1.00
IGL01663:Acaca APN 11 84,168,628 (GRCm39) missense possibly damaging 0.85
IGL01767:Acaca APN 11 84,211,368 (GRCm39) missense probably benign 0.01
IGL02206:Acaca APN 11 84,151,573 (GRCm39) nonsense probably null
IGL02335:Acaca APN 11 84,105,084 (GRCm39) missense possibly damaging 0.84
IGL02477:Acaca APN 11 84,197,994 (GRCm39) splice site probably benign
IGL02515:Acaca APN 11 84,153,229 (GRCm39) missense probably benign
IGL02651:Acaca APN 11 84,136,030 (GRCm39) splice site probably benign
IGL02805:Acaca APN 11 84,113,959 (GRCm39) splice site probably benign
IGL03328:Acaca APN 11 84,211,355 (GRCm39) missense probably benign 0.00
effervescence UTSW 11 84,153,300 (GRCm39) missense probably benign 0.41
fizz UTSW 11 84,136,682 (GRCm39) missense probably damaging 0.98
greenhouse UTSW 11 84,229,182 (GRCm39) missense probably damaging 1.00
Serene UTSW 11 84,202,235 (GRCm39) splice site probably null
Tranquil UTSW 11 84,171,287 (GRCm39) missense probably damaging 1.00
vitamin UTSW 11 84,171,261 (GRCm39) missense possibly damaging 0.78
ANU05:Acaca UTSW 11 84,206,678 (GRCm39) missense probably damaging 1.00
R0385:Acaca UTSW 11 84,122,574 (GRCm39) missense probably benign 0.01
R0518:Acaca UTSW 11 84,181,112 (GRCm39) critical splice acceptor site probably null
R0536:Acaca UTSW 11 84,171,342 (GRCm39) splice site probably benign
R0962:Acaca UTSW 11 84,202,129 (GRCm39) missense probably damaging 1.00
R0968:Acaca UTSW 11 84,129,859 (GRCm39) nonsense probably null
R1123:Acaca UTSW 11 84,154,906 (GRCm39) missense probably benign 0.09
R1452:Acaca UTSW 11 84,185,885 (GRCm39) splice site probably benign
R1478:Acaca UTSW 11 84,263,453 (GRCm39) missense probably damaging 1.00
R1500:Acaca UTSW 11 84,184,810 (GRCm39) missense probably benign 0.00
R1512:Acaca UTSW 11 84,086,295 (GRCm39) missense probably benign 0.00
R1657:Acaca UTSW 11 84,154,910 (GRCm39) missense probably benign 0.09
R1681:Acaca UTSW 11 84,117,011 (GRCm39) missense probably damaging 1.00
R1682:Acaca UTSW 11 84,283,043 (GRCm39) missense probably benign 0.23
R1688:Acaca UTSW 11 84,129,722 (GRCm39) missense probably damaging 1.00
R1755:Acaca UTSW 11 84,167,390 (GRCm39) frame shift probably null
R1775:Acaca UTSW 11 84,191,248 (GRCm39) missense possibly damaging 0.56
R1793:Acaca UTSW 11 84,229,219 (GRCm39) missense probably damaging 1.00
R1793:Acaca UTSW 11 84,206,795 (GRCm39) missense probably damaging 0.98
R1855:Acaca UTSW 11 84,262,380 (GRCm39) missense probably damaging 0.96
R1881:Acaca UTSW 11 84,191,297 (GRCm39) splice site probably benign
R1881:Acaca UTSW 11 84,161,213 (GRCm39) nonsense probably null
R1989:Acaca UTSW 11 84,153,355 (GRCm39) missense probably damaging 0.98
R2147:Acaca UTSW 11 84,167,362 (GRCm39) missense probably benign 0.03
R2215:Acaca UTSW 11 84,254,619 (GRCm39) missense probably damaging 1.00
R2238:Acaca UTSW 11 84,282,331 (GRCm39) splice site probably benign
R2252:Acaca UTSW 11 84,262,358 (GRCm39) missense probably damaging 0.99
R2316:Acaca UTSW 11 84,185,809 (GRCm39) missense possibly damaging 0.69
R2316:Acaca UTSW 11 84,154,906 (GRCm39) missense probably benign 0.16
R2337:Acaca UTSW 11 84,148,023 (GRCm39) missense possibly damaging 0.93
R2697:Acaca UTSW 11 84,255,239 (GRCm39) missense probably damaging 1.00
R3551:Acaca UTSW 11 84,152,450 (GRCm39) missense probably damaging 1.00
R3552:Acaca UTSW 11 84,152,450 (GRCm39) missense probably damaging 1.00
R3748:Acaca UTSW 11 84,202,235 (GRCm39) splice site probably null
R3844:Acaca UTSW 11 84,255,239 (GRCm39) missense probably damaging 1.00
R3873:Acaca UTSW 11 84,203,547 (GRCm39) unclassified probably benign
R4152:Acaca UTSW 11 84,183,752 (GRCm39) missense possibly damaging 0.88
R4406:Acaca UTSW 11 84,171,275 (GRCm39) missense probably benign 0.35
R4448:Acaca UTSW 11 84,153,318 (GRCm39) missense probably damaging 1.00
R4642:Acaca UTSW 11 84,171,287 (GRCm39) missense probably damaging 1.00
R4696:Acaca UTSW 11 84,171,261 (GRCm39) missense possibly damaging 0.78
R4707:Acaca UTSW 11 84,203,680 (GRCm39) missense probably damaging 0.96
R4710:Acaca UTSW 11 84,283,163 (GRCm39) missense possibly damaging 0.84
R4775:Acaca UTSW 11 84,134,165 (GRCm39) missense probably damaging 1.00
R4821:Acaca UTSW 11 84,185,813 (GRCm39) missense possibly damaging 0.69
R4883:Acaca UTSW 11 84,142,116 (GRCm39) missense probably benign 0.01
R4988:Acaca UTSW 11 84,154,121 (GRCm39) missense probably damaging 1.00
R5034:Acaca UTSW 11 84,136,090 (GRCm39) missense probably benign 0.00
R5255:Acaca UTSW 11 84,202,133 (GRCm39) missense probably damaging 1.00
R5294:Acaca UTSW 11 84,282,345 (GRCm39) missense probably benign 0.01
R5350:Acaca UTSW 11 84,106,699 (GRCm39) missense probably damaging 0.99
R5437:Acaca UTSW 11 84,237,646 (GRCm39) splice site probably null
R5664:Acaca UTSW 11 84,134,210 (GRCm39) missense probably damaging 1.00
R5665:Acaca UTSW 11 84,136,120 (GRCm39) nonsense probably null
R5959:Acaca UTSW 11 84,106,792 (GRCm39) missense probably damaging 1.00
R6011:Acaca UTSW 11 84,136,570 (GRCm39) missense probably benign 0.44
R6027:Acaca UTSW 11 84,289,003 (GRCm39) missense probably benign
R6313:Acaca UTSW 11 84,183,755 (GRCm39) missense probably benign 0.00
R6450:Acaca UTSW 11 84,171,294 (GRCm39) missense probably damaging 0.98
R6623:Acaca UTSW 11 84,262,325 (GRCm39) critical splice acceptor site probably null
R6736:Acaca UTSW 11 84,129,664 (GRCm39) missense probably benign 0.05
R6752:Acaca UTSW 11 84,086,309 (GRCm39) missense probably benign 0.44
R6807:Acaca UTSW 11 84,282,356 (GRCm39) missense probably benign
R6826:Acaca UTSW 11 84,086,362 (GRCm39) missense probably damaging 1.00
R7035:Acaca UTSW 11 84,129,769 (GRCm39) missense probably damaging 1.00
R7078:Acaca UTSW 11 84,154,138 (GRCm39) missense possibly damaging 0.91
R7088:Acaca UTSW 11 84,169,783 (GRCm39) critical splice donor site probably null
R7201:Acaca UTSW 11 84,153,300 (GRCm39) missense probably benign 0.41
R7261:Acaca UTSW 11 84,259,526 (GRCm39) missense probably damaging 1.00
R7399:Acaca UTSW 11 84,151,505 (GRCm39) missense possibly damaging 0.89
R7421:Acaca UTSW 11 84,254,562 (GRCm39) missense possibly damaging 0.64
R7443:Acaca UTSW 11 84,206,619 (GRCm39) missense probably benign 0.02
R7453:Acaca UTSW 11 84,136,136 (GRCm39) missense probably benign
R7471:Acaca UTSW 11 84,168,608 (GRCm39) splice site probably null
R7519:Acaca UTSW 11 84,136,682 (GRCm39) missense probably damaging 0.98
R7537:Acaca UTSW 11 84,151,460 (GRCm39) missense probably damaging 1.00
R7574:Acaca UTSW 11 84,152,414 (GRCm39) missense probably benign
R7633:Acaca UTSW 11 84,263,465 (GRCm39) missense probably benign 0.26
R7643:Acaca UTSW 11 84,229,182 (GRCm39) missense probably damaging 1.00
R7664:Acaca UTSW 11 84,136,175 (GRCm39) missense probably damaging 1.00
R7675:Acaca UTSW 11 84,206,742 (GRCm39) missense probably benign 0.04
R7676:Acaca UTSW 11 84,185,813 (GRCm39) missense possibly damaging 0.69
R7729:Acaca UTSW 11 84,262,339 (GRCm39) missense probably damaging 0.98
R7867:Acaca UTSW 11 84,140,350 (GRCm39) missense possibly damaging 0.88
R7898:Acaca UTSW 11 84,255,275 (GRCm39) critical splice donor site probably null
R7909:Acaca UTSW 11 84,136,061 (GRCm39) missense possibly damaging 0.56
R7915:Acaca UTSW 11 84,167,414 (GRCm39) missense probably benign
R7956:Acaca UTSW 11 84,211,406 (GRCm39) missense probably damaging 0.98
R8000:Acaca UTSW 11 84,283,057 (GRCm39) missense possibly damaging 0.88
R8038:Acaca UTSW 11 84,106,730 (GRCm39) missense probably damaging 1.00
R8545:Acaca UTSW 11 84,236,794 (GRCm39) missense probably damaging 1.00
R8722:Acaca UTSW 11 84,229,283 (GRCm39) missense possibly damaging 0.85
R9005:Acaca UTSW 11 84,262,410 (GRCm39) missense probably damaging 0.99
R9130:Acaca UTSW 11 84,202,145 (GRCm39) missense probably damaging 1.00
R9397:Acaca UTSW 11 84,259,551 (GRCm39) missense probably damaging 1.00
R9489:Acaca UTSW 11 84,183,842 (GRCm39) missense probably benign 0.01
R9540:Acaca UTSW 11 84,134,237 (GRCm39) missense probably damaging 1.00
R9593:Acaca UTSW 11 84,271,339 (GRCm39) nonsense probably null
R9605:Acaca UTSW 11 84,183,842 (GRCm39) missense probably benign 0.01
R9634:Acaca UTSW 11 84,184,816 (GRCm39) missense probably benign 0.00
R9720:Acaca UTSW 11 84,154,183 (GRCm39) missense probably damaging 1.00
RF014:Acaca UTSW 11 84,122,550 (GRCm39) missense probably benign 0.01
X0027:Acaca UTSW 11 84,183,721 (GRCm39) missense probably benign 0.01
X0060:Acaca UTSW 11 84,154,930 (GRCm39) missense probably benign
X0067:Acaca UTSW 11 84,259,563 (GRCm39) nonsense probably null
Z1176:Acaca UTSW 11 84,151,546 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGCGCTATGGAAGTCGGC -3'
(R):5'- AAGTAGCACAAGAACCCTGG -3'

Sequencing Primer
(F):5'- CTATGGAAATTGCGGGTCCTCC -3'
(R):5'- CACCTGTGGAGTTGGTTCACC -3'
Posted On 2018-02-28