Incidental Mutation 'R1989:Acaca'
ID 223067
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 040001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1989 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 84020498-84292477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84153355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 921 (M921T)
Ref Sequence ENSEMBL: ENSMUSP00000099490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201]
AlphaFold Q5SWU9
Predicted Effect probably damaging
Transcript: ENSMUST00000020843
AA Change: M921T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: M921T

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 damaging
Transcript: ENSMUST00000103201
AA Change: M921T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: M921T

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,394 (GRCm39) D216V possibly damaging Het
Actn2 A T 13: 12,355,276 (GRCm39) W36R probably benign Het
Adcy9 A T 16: 4,116,591 (GRCm39) V643D probably damaging Het
Agbl4 A T 4: 111,423,879 (GRCm39) T302S possibly damaging Het
Akap13 A G 7: 75,354,264 (GRCm39) N1795S probably benign Het
Ang T A 14: 51,339,008 (GRCm39) C50S probably damaging Het
Anxa13 T A 15: 58,205,344 (GRCm39) noncoding transcript Het
Asxl3 T C 18: 22,585,420 (GRCm39) V115A probably damaging Het
B4galt5 A T 2: 167,146,923 (GRCm39) W304R probably damaging Het
Bptf T C 11: 106,965,652 (GRCm39) K1118E probably damaging Het
Cacna1b T C 2: 24,611,386 (GRCm39) Y335C probably damaging Het
Catsperb A T 12: 101,568,970 (GRCm39) I881F probably damaging Het
Ccn1 A T 3: 145,353,498 (GRCm39) Y355N probably benign Het
Chrm5 A G 2: 112,310,597 (GRCm39) V173A probably damaging Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Cyp2f2 A G 7: 26,828,628 (GRCm39) D90G probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
E2f8 T C 7: 48,523,028 (GRCm39) E349G probably benign Het
Ebf1 T C 11: 44,512,793 (GRCm39) M134T probably damaging Het
Fn1 T C 1: 71,690,784 (GRCm39) H59R probably damaging Het
Focad T C 4: 88,151,021 (GRCm39) probably null Het
Gabra1 A T 11: 42,045,842 (GRCm39) D89E probably damaging Het
Hip1r G T 5: 124,127,761 (GRCm39) V90F probably damaging Het
Ifi213 C A 1: 173,396,374 (GRCm39) probably null Het
Kcnj9 A G 1: 172,153,716 (GRCm39) I136T probably benign Het
Kmt2c A G 5: 25,703,542 (GRCm39) S3P possibly damaging Het
Lrrc4b GAGAAG GAG 7: 44,111,654 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,931,432 (GRCm39) S43L probably damaging Het
Macf1 A G 4: 123,391,519 (GRCm39) probably null Het
Mad1l1 A G 5: 140,289,425 (GRCm39) S167P probably benign Het
Maml3 G T 3: 51,605,179 (GRCm39) A64D probably damaging Het
Mgat4c T C 10: 102,214,020 (GRCm39) M1T probably null Het
Mkrn2os G T 6: 115,566,311 (GRCm39) T88K probably damaging Het
Mob3c T C 4: 115,688,754 (GRCm39) Y96H probably damaging Het
Mpo T A 11: 87,694,298 (GRCm39) I96N probably damaging Het
Mup17 T A 4: 61,511,860 (GRCm39) Y138F probably benign Het
Myh8 A G 11: 67,183,550 (GRCm39) I754V probably benign Het
Naa30 T A 14: 49,415,597 (GRCm39) L289* probably null Het
Nap1l4 A C 7: 143,080,921 (GRCm39) F292V probably damaging Het
Nek5 T A 8: 22,601,185 (GRCm39) N129Y probably damaging Het
Nlrp9a A G 7: 26,273,338 (GRCm39) E880G probably benign Het
Nsun6 G T 2: 15,042,995 (GRCm39) N155K probably benign Het
Or2aj5 A T 16: 19,425,407 (GRCm39) Y4N probably benign Het
Or4c102 T A 2: 88,422,943 (GRCm39) I265K probably damaging Het
Or4f62 T A 2: 111,986,722 (GRCm39) I142N probably benign Het
Or52a33 A T 7: 103,288,702 (GRCm39) I215K probably damaging Het
Or52ad1 T A 7: 102,995,316 (GRCm39) Y273F possibly damaging Het
Or5p5 A T 7: 107,413,907 (GRCm39) I39L probably benign Het
Or8d23 T C 9: 38,842,171 (GRCm39) S235P possibly damaging Het
Palm3 G A 8: 84,756,651 (GRCm39) S721N possibly damaging Het
Ppp2r5d C T 17: 46,995,025 (GRCm39) V559M probably benign Het
Ptgfr A T 3: 151,540,976 (GRCm39) Y177* probably null Het
Rnase10 A T 14: 51,247,095 (GRCm39) I121L probably benign Het
Sall2 G A 14: 52,551,896 (GRCm39) P431L probably damaging Het
Sbf2 A G 7: 109,948,130 (GRCm39) V1194A possibly damaging Het
Scimp T C 11: 70,682,402 (GRCm39) K105E possibly damaging Het
Scrt2 A T 2: 151,924,007 (GRCm39) D13V probably damaging Het
Snx19 A G 9: 30,339,404 (GRCm39) S181G possibly damaging Het
Spata2 G A 2: 167,326,234 (GRCm39) T195M possibly damaging Het
Sptbn4 A G 7: 27,067,127 (GRCm39) V614A probably damaging Het
Srpk2 G A 5: 23,723,421 (GRCm39) A565V probably damaging Het
Stard9 A G 2: 120,531,887 (GRCm39) I2715V probably benign Het
Sval1 A G 6: 41,932,425 (GRCm39) T92A possibly damaging Het
Synrg T C 11: 83,910,781 (GRCm39) probably null Het
Tlr12 T C 4: 128,510,862 (GRCm39) T463A probably benign Het
Tnxb A G 17: 34,902,351 (GRCm39) H945R probably benign Het
Tnxb A T 17: 34,912,859 (GRCm39) D1791V probably damaging Het
Topaz1 C T 9: 122,579,190 (GRCm39) T700I possibly damaging Het
Trappc8 A G 18: 20,978,708 (GRCm39) V796A probably benign Het
Trpm1 A T 7: 63,858,780 (GRCm39) probably null Het
Ttll4 G T 1: 74,724,527 (GRCm39) V566L possibly damaging Het
Ttn T A 2: 76,581,285 (GRCm39) N23203Y probably damaging Het
Ttn A T 2: 76,601,131 (GRCm39) Y18781N probably damaging Het
Tuba3a T C 6: 125,258,216 (GRCm39) N258S probably damaging Het
Upk1b A T 16: 38,604,603 (GRCm39) W141R possibly damaging Het
Vars1 T C 17: 35,230,814 (GRCm39) F567L possibly damaging Het
Vcpip1 G C 1: 9,815,788 (GRCm39) A865G probably benign Het
Vmn2r22 A T 6: 123,614,500 (GRCm39) F363L probably damaging Het
Vmn2r66 A T 7: 84,661,201 (GRCm39) F10I probably benign Het
Wbp2 C T 11: 115,971,047 (GRCm39) probably null Het
Yy1 T C 12: 108,772,534 (GRCm39) L270P probably damaging Het
Zan A T 5: 137,418,268 (GRCm39) C2943* probably null Het
Zfp51 T A 17: 21,676,582 (GRCm39) Y18N possibly damaging 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
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
R6246:Acaca UTSW 11 84,206,796 (GRCm39) missense probably benign 0.08
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'- CACTGTAGTGCTGGAGACTCAG -3'
(R):5'- AAGGATTCAATGCTTTCGGTGG -3'

Sequencing Primer
(F):5'- AGTGCTGGAGACTCAGGATCTG -3'
(R):5'- GCTTTCGGTGGTAAAATCACAGAC -3'
Posted On 2014-08-25