Incidental Mutation 'R7078:Acaca'
ID 549364
Institutional Source Beutler Lab
Gene Symbol Acaca
Ensembl Gene ENSMUSG00000020532
Gene Name acetyl-Coenzyme A carboxylase alpha
Synonyms LOC327983, Acac, A530025K05Rik, acetyl-CoA carboxylase, Acc1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7078 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 84129672-84401651 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84263312 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 953 (R953Q)
Ref Sequence ENSEMBL: ENSMUSP00000020843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201]
AlphaFold Q5SWU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000020843
AA Change: R953Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: R953Q

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 possibly damaging
Transcript: ENSMUST00000103201
AA Change: R953Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: R953Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A T 19: 20,602,070 (GRCm38) H20L probably benign Het
Ankrd52 T A 10: 128,383,657 (GRCm38) C487S probably benign Het
Ap1s3 T C 1: 79,625,128 (GRCm38) E54G probably benign Het
Arglu1 A C 8: 8,667,361 (GRCm38) M236R probably benign Het
Baz1b T A 5: 135,217,439 (GRCm38) F581I probably benign Het
Bbox1 T G 2: 110,292,539 (GRCm38) D135A probably benign Het
Bcl2l14 T A 6: 134,423,823 (GRCm38) V69E probably damaging Het
Brinp3 C T 1: 146,514,889 (GRCm38) Q58* probably null Het
Ccnb1ip1 T A 14: 50,792,267 (GRCm38) K113* probably null Het
Cep128 T C 12: 91,234,104 (GRCm38) I830M probably damaging Het
Ces2f C T 8: 104,954,652 (GRCm38) T541I probably damaging Het
Chsy3 C A 18: 59,176,077 (GRCm38) P134Q possibly damaging Het
Cobl T G 11: 12,378,271 (GRCm38) T112P probably damaging Het
Cplane2 A T 4: 141,219,848 (GRCm38) Y180F probably benign Het
Dcc T A 18: 71,547,398 (GRCm38) K589I probably benign Het
Depdc1b T A 13: 108,386,971 (GRCm38) I460K possibly damaging Het
Dlst T C 12: 85,110,931 (GRCm38) F12S probably benign Het
Dnah1 G C 14: 31,297,110 (GRCm38) F1342L probably damaging Het
Dtnb A G 12: 3,748,480 (GRCm38) Q438R possibly damaging Het
Dusp4 C A 8: 34,807,911 (GRCm38) S61R probably damaging Het
E130308A19Rik A G 4: 59,737,688 (GRCm38) Y433C probably damaging Het
Ebf2 T C 14: 67,423,958 (GRCm38) S512P probably benign Het
Elapor2 A G 5: 9,410,709 (GRCm38) N210S probably benign Het
Eya1 C T 1: 14,231,412 (GRCm38) probably null Het
Fsd1 G A 17: 55,993,876 (GRCm38) R245H probably damaging Het
Fzr1 T A 10: 81,368,629 (GRCm38) D379V probably damaging Het
Gk2 T A 5: 97,456,336 (GRCm38) E214D probably benign Het
Gm10837 C G 14: 122,490,730 (GRCm38) A6G unknown Het
Gmnc A T 16: 26,960,522 (GRCm38) V251E probably benign Het
Golga3 A G 5: 110,193,087 (GRCm38) Q549R probably damaging Het
Gsdmd T G 15: 75,864,355 (GRCm38) V111G probably damaging Het
Gtf3c1 T C 7: 125,645,742 (GRCm38) T1707A possibly damaging Het
Gucy2c C T 6: 136,697,939 (GRCm38) V1049M probably benign Het
Gucy2g A G 19: 55,241,151 (GRCm38) V29A probably damaging Het
Hecw1 A T 13: 14,434,459 (GRCm38) M1K probably null Het
Hmcn1 T C 1: 150,860,367 (GRCm38) D117G probably damaging Het
Ifnab T A 4: 88,691,113 (GRCm38) T39S possibly damaging Het
Lcorl A G 5: 45,747,224 (GRCm38) Y171H probably damaging Het
Ly6g6c C T 17: 35,069,461 (GRCm38) P103L probably damaging Het
Macf1 T G 4: 123,432,143 (GRCm38) E5189A probably damaging Het
Mapkap1 A G 2: 34,563,139 (GRCm38) E348G probably damaging Het
Med25 G T 7: 44,884,901 (GRCm38) A280D probably damaging Het
Mep1b C A 18: 21,100,051 (GRCm38) A703E probably benign Het
Morn5 T A 2: 36,054,978 (GRCm38) N71K probably benign Het
Mtmr10 T A 7: 64,320,627 (GRCm38) Y373N possibly damaging Het
Myo1d C T 11: 80,674,634 (GRCm38) E426K probably damaging Het
Ncbp1 G C 4: 46,155,756 (GRCm38) V302L probably benign Het
Notch4 A G 17: 34,582,546 (GRCm38) T1123A possibly damaging Het
Nudt18 T A 14: 70,579,012 (GRCm38) M88K possibly damaging Het
Or12k8 A G 2: 37,085,596 (GRCm38) S51P possibly damaging Het
Or5b100-ps1 A T 19: 13,016,733 (GRCm38) D170V possibly damaging Het
Or6d12 T A 6: 116,516,671 (GRCm38) L298Q probably damaging Het
Or8g4 A T 9: 39,750,491 (GRCm38) Y35F possibly damaging Het
Pdcd6ip T C 9: 113,659,885 (GRCm38) N694S probably benign Het
Pecam1 T A 11: 106,688,947 (GRCm38) T430S probably benign Het
Plaa T G 4: 94,574,051 (GRCm38) T530P probably benign Het
Ppfia3 G T 7: 45,360,595 (GRCm38) Q95K probably damaging Het
Ppp4r2 T C 6: 100,866,313 (GRCm38) S331P probably benign Het
Prg4 T C 1: 150,458,263 (GRCm38) T117A possibly damaging Het
Prrc2b A T 2: 32,213,519 (GRCm38) D1003V probably benign Het
Ptk2 G A 15: 73,221,809 (GRCm38) P854S possibly damaging Het
Rasef T C 4: 73,780,389 (GRCm38) I12V probably benign Het
Robo2 T G 16: 74,352,616 (GRCm38) Y108S probably damaging Het
Rp1 T A 1: 4,206,791 (GRCm38) E762V unknown Het
Rsrc1 T C 3: 66,994,654 (GRCm38) S46P unknown Het
Rttn A T 18: 89,009,422 (GRCm38) T554S probably benign Het
Sall3 C T 18: 80,974,099 (GRCm38) V205M probably damaging Het
Scn3a C A 2: 65,497,600 (GRCm38) V849L probably damaging Het
Sec23a A G 12: 58,992,283 (GRCm38) C277R probably benign Het
Sf3b3 C T 8: 110,813,007 (GRCm38) A1075T possibly damaging Het
Sfxn5 T C 6: 85,332,384 (GRCm38) D113G unknown Het
Slc22a22 C T 15: 57,263,480 (GRCm38) M64I probably benign Het
Slc5a11 C T 7: 123,258,446 (GRCm38) P253S probably damaging Het
Smarcd3 A G 5: 24,593,069 (GRCm38) F449S probably damaging Het
Sspo C T 6: 48,460,379 (GRCm38) T1357M probably damaging Het
Styx C T 14: 45,372,416 (GRCm38) T179I probably benign Het
Syt7 A T 19: 10,435,599 (GRCm38) T297S probably benign Het
Tbx19 T A 1: 165,160,566 (GRCm38) probably benign Het
Tg T A 15: 66,673,543 (GRCm38) V149E probably damaging Het
Tgfbr3l T A 8: 4,249,238 (GRCm38) L35Q probably damaging Het
Tmem161b C A 13: 84,222,418 (GRCm38) probably benign Het
Tmem219 T A 7: 126,891,803 (GRCm38) T161S probably damaging Het
Tox2 T A 2: 163,320,581 (GRCm38) L68H Het
Trim5 T A 7: 104,278,474 (GRCm38) D153V possibly damaging Het
Ttn A T 2: 76,751,809 (GRCm38) N22913K probably damaging Het
Ttn T C 2: 76,750,307 (GRCm38) Y23414C probably damaging Het
Ubr2 A C 17: 46,955,853 (GRCm38) M1124R possibly damaging Het
Vmn2r75 A G 7: 86,166,360 (GRCm38) S99P probably damaging Het
Wdr83 T C 8: 85,076,051 (GRCm38) D219G probably damaging Het
Wdr90 C T 17: 25,849,649 (GRCm38) V1285M probably damaging Het
Zmynd15 A T 11: 70,460,755 (GRCm38) L62F probably damaging Het
Other mutations in Acaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Acaca APN 11 84,278,917 (GRCm38) missense probably damaging 1.00
IGL01134:Acaca APN 11 84,251,279 (GRCm38) missense probably benign 0.22
IGL01446:Acaca APN 11 84,260,631 (GRCm38) missense probably damaging 1.00
IGL01591:Acaca APN 11 84,243,320 (GRCm38) missense probably damaging 1.00
IGL01663:Acaca APN 11 84,277,802 (GRCm38) missense possibly damaging 0.85
IGL01767:Acaca APN 11 84,320,542 (GRCm38) missense probably benign 0.01
IGL02206:Acaca APN 11 84,260,747 (GRCm38) nonsense probably null
IGL02335:Acaca APN 11 84,214,258 (GRCm38) missense possibly damaging 0.84
IGL02477:Acaca APN 11 84,307,168 (GRCm38) splice site probably benign
IGL02515:Acaca APN 11 84,262,403 (GRCm38) missense probably benign
IGL02651:Acaca APN 11 84,245,204 (GRCm38) splice site probably benign
IGL02805:Acaca APN 11 84,223,133 (GRCm38) splice site probably benign
IGL03328:Acaca APN 11 84,320,529 (GRCm38) missense probably benign 0.00
effervescence UTSW 11 84,262,474 (GRCm38) missense probably benign 0.41
fizz UTSW 11 84,245,856 (GRCm38) missense probably damaging 0.98
greenhouse UTSW 11 84,338,356 (GRCm38) missense probably damaging 1.00
Serene UTSW 11 84,311,409 (GRCm38) splice site probably null
Tranquil UTSW 11 84,280,461 (GRCm38) missense probably damaging 1.00
vitamin UTSW 11 84,280,435 (GRCm38) missense possibly damaging 0.78
ANU05:Acaca UTSW 11 84,315,852 (GRCm38) missense probably damaging 1.00
R0385:Acaca UTSW 11 84,231,748 (GRCm38) missense probably benign 0.01
R0518:Acaca UTSW 11 84,290,286 (GRCm38) critical splice acceptor site probably null
R0536:Acaca UTSW 11 84,280,516 (GRCm38) splice site probably benign
R0962:Acaca UTSW 11 84,311,303 (GRCm38) missense probably damaging 1.00
R0968:Acaca UTSW 11 84,239,033 (GRCm38) nonsense probably null
R1123:Acaca UTSW 11 84,264,080 (GRCm38) missense probably benign 0.09
R1452:Acaca UTSW 11 84,295,059 (GRCm38) splice site probably benign
R1478:Acaca UTSW 11 84,372,627 (GRCm38) missense probably damaging 1.00
R1500:Acaca UTSW 11 84,293,984 (GRCm38) missense probably benign 0.00
R1512:Acaca UTSW 11 84,195,469 (GRCm38) missense probably benign 0.00
R1657:Acaca UTSW 11 84,264,084 (GRCm38) missense probably benign 0.09
R1681:Acaca UTSW 11 84,226,185 (GRCm38) missense probably damaging 1.00
R1682:Acaca UTSW 11 84,392,217 (GRCm38) missense probably benign 0.23
R1688:Acaca UTSW 11 84,238,896 (GRCm38) missense probably damaging 1.00
R1755:Acaca UTSW 11 84,276,564 (GRCm38) frame shift probably null
R1775:Acaca UTSW 11 84,300,422 (GRCm38) missense possibly damaging 0.56
R1793:Acaca UTSW 11 84,338,393 (GRCm38) missense probably damaging 1.00
R1793:Acaca UTSW 11 84,315,969 (GRCm38) missense probably damaging 0.98
R1855:Acaca UTSW 11 84,371,554 (GRCm38) missense probably damaging 0.96
R1881:Acaca UTSW 11 84,300,471 (GRCm38) splice site probably benign
R1881:Acaca UTSW 11 84,270,387 (GRCm38) nonsense probably null
R1989:Acaca UTSW 11 84,262,529 (GRCm38) missense probably damaging 0.98
R2147:Acaca UTSW 11 84,276,536 (GRCm38) missense probably benign 0.03
R2215:Acaca UTSW 11 84,363,793 (GRCm38) missense probably damaging 1.00
R2238:Acaca UTSW 11 84,391,505 (GRCm38) splice site probably benign
R2252:Acaca UTSW 11 84,371,532 (GRCm38) missense probably damaging 0.99
R2316:Acaca UTSW 11 84,294,983 (GRCm38) missense possibly damaging 0.69
R2316:Acaca UTSW 11 84,264,080 (GRCm38) missense probably benign 0.16
R2337:Acaca UTSW 11 84,257,197 (GRCm38) missense possibly damaging 0.93
R2697:Acaca UTSW 11 84,364,413 (GRCm38) missense probably damaging 1.00
R3551:Acaca UTSW 11 84,261,624 (GRCm38) missense probably damaging 1.00
R3552:Acaca UTSW 11 84,261,624 (GRCm38) missense probably damaging 1.00
R3748:Acaca UTSW 11 84,311,409 (GRCm38) splice site probably null
R3844:Acaca UTSW 11 84,364,413 (GRCm38) missense probably damaging 1.00
R3873:Acaca UTSW 11 84,312,721 (GRCm38) unclassified probably benign
R4152:Acaca UTSW 11 84,292,926 (GRCm38) missense possibly damaging 0.88
R4406:Acaca UTSW 11 84,280,449 (GRCm38) missense probably benign 0.35
R4448:Acaca UTSW 11 84,262,492 (GRCm38) missense probably damaging 1.00
R4642:Acaca UTSW 11 84,280,461 (GRCm38) missense probably damaging 1.00
R4696:Acaca UTSW 11 84,280,435 (GRCm38) missense possibly damaging 0.78
R4707:Acaca UTSW 11 84,312,854 (GRCm38) missense probably damaging 0.96
R4710:Acaca UTSW 11 84,392,337 (GRCm38) missense possibly damaging 0.84
R4775:Acaca UTSW 11 84,243,339 (GRCm38) missense probably damaging 1.00
R4821:Acaca UTSW 11 84,294,987 (GRCm38) missense possibly damaging 0.69
R4883:Acaca UTSW 11 84,251,290 (GRCm38) missense probably benign 0.01
R4988:Acaca UTSW 11 84,263,295 (GRCm38) missense probably damaging 1.00
R5034:Acaca UTSW 11 84,245,264 (GRCm38) missense probably benign 0.00
R5255:Acaca UTSW 11 84,311,307 (GRCm38) missense probably damaging 1.00
R5294:Acaca UTSW 11 84,391,519 (GRCm38) missense probably benign 0.01
R5350:Acaca UTSW 11 84,215,873 (GRCm38) missense probably damaging 0.99
R5437:Acaca UTSW 11 84,346,820 (GRCm38) splice site probably null
R5664:Acaca UTSW 11 84,243,384 (GRCm38) missense probably damaging 1.00
R5665:Acaca UTSW 11 84,245,294 (GRCm38) nonsense probably null
R5959:Acaca UTSW 11 84,215,966 (GRCm38) missense probably damaging 1.00
R6011:Acaca UTSW 11 84,245,744 (GRCm38) missense probably benign 0.44
R6027:Acaca UTSW 11 84,398,177 (GRCm38) missense probably benign
R6246:Acaca UTSW 11 84,315,970 (GRCm38) missense probably benign 0.08
R6313:Acaca UTSW 11 84,292,929 (GRCm38) missense probably benign 0.00
R6450:Acaca UTSW 11 84,280,468 (GRCm38) missense probably damaging 0.98
R6623:Acaca UTSW 11 84,371,499 (GRCm38) critical splice acceptor site probably null
R6736:Acaca UTSW 11 84,238,838 (GRCm38) missense probably benign 0.05
R6752:Acaca UTSW 11 84,195,483 (GRCm38) missense probably benign 0.44
R6807:Acaca UTSW 11 84,391,530 (GRCm38) missense probably benign
R6826:Acaca UTSW 11 84,195,536 (GRCm38) missense probably damaging 1.00
R7035:Acaca UTSW 11 84,238,943 (GRCm38) missense probably damaging 1.00
R7088:Acaca UTSW 11 84,278,957 (GRCm38) critical splice donor site probably null
R7201:Acaca UTSW 11 84,262,474 (GRCm38) missense probably benign 0.41
R7261:Acaca UTSW 11 84,368,700 (GRCm38) missense probably damaging 1.00
R7399:Acaca UTSW 11 84,260,679 (GRCm38) missense possibly damaging 0.89
R7421:Acaca UTSW 11 84,363,736 (GRCm38) missense possibly damaging 0.64
R7443:Acaca UTSW 11 84,315,793 (GRCm38) missense probably benign 0.02
R7453:Acaca UTSW 11 84,245,310 (GRCm38) missense probably benign
R7471:Acaca UTSW 11 84,277,782 (GRCm38) splice site probably null
R7519:Acaca UTSW 11 84,245,856 (GRCm38) missense probably damaging 0.98
R7537:Acaca UTSW 11 84,260,634 (GRCm38) missense probably damaging 1.00
R7574:Acaca UTSW 11 84,261,588 (GRCm38) missense probably benign
R7633:Acaca UTSW 11 84,372,639 (GRCm38) missense probably benign 0.26
R7643:Acaca UTSW 11 84,338,356 (GRCm38) missense probably damaging 1.00
R7664:Acaca UTSW 11 84,245,349 (GRCm38) missense probably damaging 1.00
R7675:Acaca UTSW 11 84,315,916 (GRCm38) missense probably benign 0.04
R7676:Acaca UTSW 11 84,294,987 (GRCm38) missense possibly damaging 0.69
R7729:Acaca UTSW 11 84,371,513 (GRCm38) missense probably damaging 0.98
R7867:Acaca UTSW 11 84,249,524 (GRCm38) missense possibly damaging 0.88
R7898:Acaca UTSW 11 84,364,449 (GRCm38) critical splice donor site probably null
R7909:Acaca UTSW 11 84,245,235 (GRCm38) missense possibly damaging 0.56
R7915:Acaca UTSW 11 84,276,588 (GRCm38) missense probably benign
R7956:Acaca UTSW 11 84,320,580 (GRCm38) missense probably damaging 0.98
R8000:Acaca UTSW 11 84,392,231 (GRCm38) missense possibly damaging 0.88
R8038:Acaca UTSW 11 84,215,904 (GRCm38) missense probably damaging 1.00
R8545:Acaca UTSW 11 84,345,968 (GRCm38) missense probably damaging 1.00
R8722:Acaca UTSW 11 84,338,457 (GRCm38) missense possibly damaging 0.85
R9005:Acaca UTSW 11 84,371,584 (GRCm38) missense probably damaging 0.99
R9130:Acaca UTSW 11 84,311,319 (GRCm38) missense probably damaging 1.00
R9397:Acaca UTSW 11 84,368,725 (GRCm38) missense probably damaging 1.00
R9489:Acaca UTSW 11 84,293,016 (GRCm38) missense probably benign 0.01
R9540:Acaca UTSW 11 84,243,411 (GRCm38) missense probably damaging 1.00
R9593:Acaca UTSW 11 84,380,513 (GRCm38) nonsense probably null
R9605:Acaca UTSW 11 84,293,016 (GRCm38) missense probably benign 0.01
R9634:Acaca UTSW 11 84,293,990 (GRCm38) missense probably benign 0.00
R9720:Acaca UTSW 11 84,263,357 (GRCm38) missense probably damaging 1.00
RF014:Acaca UTSW 11 84,231,724 (GRCm38) missense probably benign 0.01
X0027:Acaca UTSW 11 84,292,895 (GRCm38) missense probably benign 0.01
X0060:Acaca UTSW 11 84,264,104 (GRCm38) missense probably benign
X0067:Acaca UTSW 11 84,368,737 (GRCm38) nonsense probably null
Z1176:Acaca UTSW 11 84,260,720 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCAGACCCAGGGTTTGTC -3'
(R):5'- TTTGGGGCCATAATAACTGACAGAG -3'

Sequencing Primer
(F):5'- CCAGGGTTTGTCATGGTGTAACC -3'
(R):5'- GTGAGTTCAGTCACAGATCTAAGTAG -3'
Posted On 2019-05-15