Incidental Mutation 'R9130:Acaca'
ID 693567
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 068928-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9130 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 84020498-84292477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84202145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 1380 (L1380S)
Ref Sequence ENSEMBL: ENSMUSP00000020843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201] [ENSMUST00000183887]
AlphaFold Q5SWU9
Predicted Effect probably damaging
Transcript: ENSMUST00000020843
AA Change: L1380S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: L1380S

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: L1380S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: L1380S

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 damaging
Transcript: ENSMUST00000183887
AA Change: L201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532
AA Change: L201S

DomainStartEndE-ValueType
Pfam:ACC_central 1 228 8.6e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (87/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A G 11: 76,342,753 (GRCm39) C585R possibly damaging Het
Aifm2 A C 10: 61,563,505 (GRCm39) Q125P probably null Het
Ak5 A T 3: 152,178,569 (GRCm39) L482* probably null Het
Aldh3a2 T C 11: 61,139,758 (GRCm39) Q458R probably benign Het
Ank2 G A 3: 126,810,565 (GRCm39) T524I Het
Apoc3 A T 9: 46,146,481 (GRCm39) S25T unknown Het
Ash1l A T 3: 88,965,848 (GRCm39) R2417* probably null Het
Bbs12 A G 3: 37,373,205 (GRCm39) probably benign Het
Birc6 T A 17: 74,919,146 (GRCm39) I1992N Het
Brd9 G A 13: 74,092,906 (GRCm39) V299M probably damaging Het
Brwd1 A T 16: 95,866,130 (GRCm39) N217K probably damaging Het
C3 T C 17: 57,518,678 (GRCm39) Y1235C probably damaging Het
Cacna1c T C 6: 118,590,907 (GRCm39) Y1538C Het
Ccdc172 T A 19: 58,525,779 (GRCm39) H212Q possibly damaging Het
Cdc6 A G 11: 98,802,999 (GRCm39) D313G probably damaging Het
Cyp2e1 T C 7: 140,353,022 (GRCm39) V353A probably damaging Het
Dlg2 G T 7: 92,080,258 (GRCm39) V711F probably damaging Het
Dmac2 T C 7: 25,320,448 (GRCm39) F49S probably damaging Het
Dnah7b A G 1: 46,173,674 (GRCm39) K660E probably benign Het
Dusp8 A T 7: 141,642,155 (GRCm39) S106T probably benign Het
Dynll1 T A 5: 115,438,604 (GRCm39) I34F probably benign Het
Epb41l4b A G 4: 57,103,447 (GRCm39) F130L possibly damaging Het
Erc2 T C 14: 27,751,418 (GRCm39) Y705H probably benign Het
Exosc8 T A 3: 54,638,503 (GRCm39) L160F probably damaging Het
F5 A G 1: 164,001,830 (GRCm39) T178A probably benign Het
F7 C A 8: 13,085,059 (GRCm39) P362T probably damaging Het
Fkbp3 T C 12: 65,112,567 (GRCm39) K156E possibly damaging Het
Folh1 G A 7: 86,368,913 (GRCm39) T738I probably benign Het
Gatad2b C T 3: 90,255,936 (GRCm39) A134V probably benign Het
Glud1 T A 14: 34,057,349 (GRCm39) W338R Het
Gm21149 T C 5: 15,680,261 (GRCm39) K62E possibly damaging Het
Gm32742 A G 9: 51,050,049 (GRCm39) Y1517H probably damaging Het
Grik5 G A 7: 24,767,429 (GRCm39) probably benign Het
Gse1 A T 8: 121,295,052 (GRCm39) E391V unknown Het
Gxylt2 C T 6: 100,710,329 (GRCm39) Q157* probably null Het
Hbq1b C T 11: 32,237,092 (GRCm39) T27I probably damaging Het
Hoxd13 T A 2: 74,499,382 (GRCm39) D243E probably benign Het
Hsd3b3 T A 3: 98,651,211 (GRCm39) I80F possibly damaging Het
Hsf2bp A T 17: 32,230,082 (GRCm39) probably benign Het
Itch G A 2: 155,052,045 (GRCm39) probably benign Het
Kat14 T C 2: 144,215,742 (GRCm39) F76L probably benign Het
Kdm6b T C 11: 69,295,424 (GRCm39) T948A unknown Het
Kmt2c A T 5: 25,516,102 (GRCm39) H2580Q probably benign Het
Lrp1 T C 10: 127,382,281 (GRCm39) T3727A probably benign Het
Lrrc8a A G 2: 30,147,042 (GRCm39) I619V possibly damaging Het
Mansc1 C A 6: 134,586,951 (GRCm39) G409W probably damaging Het
Map3k11 C A 19: 5,746,038 (GRCm39) L418I possibly damaging Het
Mettl4 T A 17: 95,042,913 (GRCm39) I308L possibly damaging Het
Myo9a A G 9: 59,739,514 (GRCm39) D742G probably damaging Het
Mypn T C 10: 63,028,652 (GRCm39) Q137R probably benign Het
Neurod4 A T 10: 130,106,427 (GRCm39) Y282* probably null Het
Nup210 A G 6: 91,020,799 (GRCm39) F965S probably benign Het
Oplah T C 15: 76,185,098 (GRCm39) T872A possibly damaging Het
Or1ab2 G T 8: 72,863,697 (GRCm39) G96C probably damaging Het
Or4b12 A G 2: 90,096,358 (GRCm39) C139R probably damaging Het
Or5m8 T G 2: 85,822,819 (GRCm39) Y219* probably null Het
Or6c68 A G 10: 129,157,897 (GRCm39) N135S probably benign Het
Pkn2 A T 3: 142,515,245 (GRCm39) D696E possibly damaging Het
Pla2r1 A T 2: 60,325,729 (GRCm39) probably benign Het
Plpp1 A T 13: 112,988,038 (GRCm39) I54L Het
Ppp4r2 T G 6: 100,842,113 (GRCm39) N191K probably damaging Het
Ptpdc1 G T 13: 48,739,655 (GRCm39) P592Q probably benign Het
Qrich2 A T 11: 116,347,692 (GRCm39) L1044* probably null Het
Rb1cc1 A G 1: 6,315,109 (GRCm39) I421V probably damaging Het
Ripor3 A T 2: 167,823,267 (GRCm39) C881* probably null Het
Rreb1 T C 13: 38,114,282 (GRCm39) F547S probably benign Het
Scel T C 14: 103,770,746 (GRCm39) V60A probably benign Het
Shank3 G A 15: 89,442,419 (GRCm39) A1771T probably benign Het
Slc6a20a A G 9: 123,469,631 (GRCm39) probably null Het
Slfn5 C T 11: 82,851,446 (GRCm39) T581I probably damaging Het
Ssh3 A C 19: 4,314,113 (GRCm39) V412G probably damaging Het
Stx17 T G 4: 48,159,071 (GRCm39) probably benign Het
Sun3 T G 11: 8,968,170 (GRCm39) T274P probably benign Het
Tm9sf1 T C 14: 55,875,464 (GRCm39) T427A probably damaging Het
Tmem114 T A 16: 8,229,983 (GRCm39) I140F Het
Tmem40 T C 6: 115,710,980 (GRCm39) R167G possibly damaging Het
Top3a C A 11: 60,641,401 (GRCm39) probably null Het
Trafd1 A G 5: 121,516,573 (GRCm39) V210A probably benign Het
Trim66 T C 7: 109,076,896 (GRCm39) I348V possibly damaging Het
Ttn G A 2: 76,679,172 (GRCm39) A10850V unknown Het
Unc80 G A 1: 66,677,244 (GRCm39) A2058T possibly damaging Het
Upp2 T C 2: 58,668,020 (GRCm39) Y238H probably damaging Het
Vmn1r224 T A 17: 20,640,242 (GRCm39) I273N probably damaging Het
Vps13c T C 9: 67,836,805 (GRCm39) S1768P probably damaging Het
Zfp26 G A 9: 20,348,723 (GRCm39) H614Y probably damaging Het
Zfp263 C T 16: 3,567,701 (GRCm39) T672I probably benign Het
Zfp641 T A 15: 98,186,732 (GRCm39) Q297L probably benign Het
Zfp944 T C 17: 22,560,031 (GRCm39) E25G probably damaging Het
Zfp994 T C 17: 22,418,981 (GRCm39) E656G unknown Het
Zfyve19 A G 2: 119,045,330 (GRCm39) D206G probably 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
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
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
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'- AAAGGTGTTCGGGCATGTCC -3'
(R):5'- ATACCCACCTTTGTGACCAGATC -3'

Sequencing Primer
(F):5'- TGAAACAGGGTTTAATCCTCCTACC -3'
(R):5'- CACCTTTGTGACCAGATCAGAGTG -3'
Posted On 2022-01-20