Incidental Mutation 'R7664:Acaca'
ID 591807
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
MMRRC Submission 045704-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7664 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 84129672-84401651 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84245349 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 510 (T510I)
Ref Sequence ENSEMBL: ENSMUSP00000020843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201]
AlphaFold Q5SWU9
Predicted Effect probably damaging
Transcript: ENSMUST00000020843
AA Change: T510I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: T510I

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: T510I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: T510I

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (83/84)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik A T 8: 3,386,390 (GRCm38) E228V probably damaging Het
Akap12 G T 10: 4,353,748 (GRCm38) W291L probably damaging Het
Akip1 A T 7: 109,708,980 (GRCm38) I152F probably benign Het
Alpk2 T A 18: 65,307,002 (GRCm38) Y440F probably benign Het
Aox3 A G 1: 58,119,539 (GRCm38) T90A probably damaging Het
B4galnt4 A G 7: 141,067,713 (GRCm38) K405E probably damaging Het
BC034090 T C 1: 155,241,631 (GRCm38) E247G probably damaging Het
Camkk2 A T 5: 122,756,582 (GRCm38) F216I unknown Het
Carm1 A C 9: 21,586,990 (GRCm38) K430T probably benign Het
Ccdc13 A G 9: 121,814,213 (GRCm38) V374A probably benign Het
Cdh26 T A 2: 178,470,042 (GRCm38) M465K probably benign Het
Ceacam10 A T 7: 24,778,332 (GRCm38) M91L probably benign Het
Chrnb1 T C 11: 69,787,024 (GRCm38) T301A possibly damaging Het
Clec4a3 A G 6: 122,966,422 (GRCm38) D101G probably benign Het
Cmss1 G A 16: 57,317,947 (GRCm38) P59S probably benign Het
Crhr1 T A 11: 104,169,142 (GRCm38) F138L probably benign Het
Cxcl5 A T 5: 90,760,031 (GRCm38) I107F probably damaging Het
Cxcr1 A G 1: 74,192,675 (GRCm38) S63P probably damaging Het
Cxcr5 A G 9: 44,513,310 (GRCm38) L350P probably benign Het
D5Ertd579e A T 5: 36,614,617 (GRCm38) H811Q probably benign Het
Ddx46 T G 13: 55,659,051 (GRCm38) I499S probably damaging Het
Ddx51 T G 5: 110,656,919 (GRCm38) probably null Het
Dnaja1 C T 4: 40,724,090 (GRCm38) P84S probably benign Het
Dnajc27 A G 12: 4,103,132 (GRCm38) K203E possibly damaging Het
Fam107b T A 2: 3,570,710 (GRCm38) C24S probably damaging Het
Fancg T C 4: 43,010,066 (GRCm38) K11R probably benign Het
Fnip1 T C 11: 54,466,125 (GRCm38) L44P probably damaging Het
Fthl17b C T X: 8,962,804 (GRCm38) R9Q possibly damaging Het
Fthl17b C T X: 8,962,808 (GRCm38) V8M possibly damaging Het
Heca A T 10: 17,902,370 (GRCm38) L493Q probably damaging Het
Hrh2 C T 13: 54,214,856 (GRCm38) P284S probably damaging Het
Ifnar1 C G 16: 91,495,194 (GRCm38) A141G probably damaging Het
Igkv6-32 T A 6: 70,074,298 (GRCm38) T25S probably damaging Het
Inppl1 T C 7: 101,830,097 (GRCm38) H525R probably damaging Het
Itga2b A G 11: 102,460,840 (GRCm38) L553P probably damaging Het
Itgbl1 A G 14: 123,846,550 (GRCm38) Y280C probably damaging Het
Kap T C 6: 133,851,957 (GRCm38) I54V probably benign Het
Kcnh4 G T 11: 100,750,322 (GRCm38) L434M probably damaging Het
Klhl14 T C 18: 21,554,649 (GRCm38) D572G probably damaging Het
Klhl41 T A 2: 69,670,717 (GRCm38) L174Q probably damaging Het
Lrp2 T G 2: 69,506,732 (GRCm38) H1232P probably damaging Het
Lyar A G 5: 38,230,817 (GRCm38) E229G probably benign Het
Mark4 A T 7: 19,443,226 (GRCm38) L226Q probably damaging Het
Mcm8 A G 2: 132,843,533 (GRCm38) K823R probably damaging Het
Mfsd6 A T 1: 52,709,053 (GRCm38) S218T probably benign Het
Mlip A T 9: 77,138,546 (GRCm38) I884N possibly damaging Het
Mmrn1 A G 6: 60,976,705 (GRCm38) T657A probably benign Het
Morc2b A G 17: 33,136,402 (GRCm38) Y799H probably benign Het
Muc16 A T 9: 18,607,722 (GRCm38) I6304N probably benign Het
Mug1 C A 6: 121,861,220 (GRCm38) H470N possibly damaging Het
Naaladl2 T C 3: 24,058,139 (GRCm38) Y593C probably damaging Het
Ncor1 T C 11: 62,398,328 (GRCm38) E341G probably damaging Het
Nrg1 G T 8: 32,009,141 (GRCm38) probably null Het
Nudt3 A G 17: 27,623,175 (GRCm38) L4P probably benign Het
Odf2l T A 3: 145,148,584 (GRCm38) H493Q probably benign Het
Ost4 A C 5: 30,907,663 (GRCm38) probably null Het
Patj A T 4: 98,496,950 (GRCm38) Q840L possibly damaging Het
Pcdh20 T A 14: 88,469,367 (GRCm38) T166S probably benign Het
Pcdhb4 T A 18: 37,309,240 (GRCm38) D534E probably damaging Het
Pik3ap1 T C 19: 41,321,630 (GRCm38) D417G possibly damaging Het
Ppwd1 A T 13: 104,220,290 (GRCm38) V239E probably damaging Het
Prdm9 T A 17: 15,555,571 (GRCm38) Y206F probably damaging Het
Ranbp6 A G 19: 29,812,076 (GRCm38) V292A possibly damaging Het
Rgs21 T A 1: 144,541,249 (GRCm38) M22L probably benign Het
Rnf17 A T 14: 56,438,878 (GRCm38) I399F probably damaging Het
Rph3a T A 5: 120,961,276 (GRCm38) Q184L probably benign Het
Scrn3 T C 2: 73,319,370 (GRCm38) Y137H possibly damaging Het
Sec14l4 C A 11: 4,044,178 (GRCm38) Y342* probably null Het
Serpinb11 G A 1: 107,379,988 (GRCm38) G383D probably damaging Het
Sf3b1 A G 1: 54,987,467 (GRCm38) V1261A probably damaging Het
Sh3tc2 C T 18: 62,014,971 (GRCm38) Q1251* probably null Het
Skor1 A T 9: 63,141,763 (GRCm38) D845E probably benign Het
Slc39a7 A G 17: 34,029,577 (GRCm38) L364P probably damaging Het
Snrpn T C 7: 59,987,491 (GRCm38) I26V probably benign Het
Snx5 A T 2: 144,258,004 (GRCm38) probably null Het
Spag9 T C 11: 94,102,160 (GRCm38) probably null Het
Srrm2 T C 17: 23,820,981 (GRCm38) S2200P probably damaging Het
Stx11 T C 10: 12,941,326 (GRCm38) E218G probably damaging Het
Tmem151b T C 17: 45,545,935 (GRCm38) N193S probably damaging Het
Tmem87b A T 2: 128,849,054 (GRCm38) D525V possibly damaging Het
Ubtfl1 A T 9: 18,409,486 (GRCm38) R103S possibly damaging Het
Vmn1r196 T A 13: 22,293,762 (GRCm38) D190E probably damaging Het
Vmn2r67 T A 7: 85,155,811 (GRCm38) D31V probably benign Het
Zbtb22 T A 17: 33,918,579 (GRCm38) M566K probably benign Het
Zfp568 A T 7: 30,022,290 (GRCm38) H220L probably benign Het
Zfp974 A T 7: 27,910,712 (GRCm38) S529R possibly 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
R7078:Acaca UTSW 11 84,263,312 (GRCm38) missense possibly damaging 0.91
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
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'- TTGATAGCTCCCCTCTGTTAAGG -3'
(R):5'- CAAATCACGGATGCTTCCTG -3'

Sequencing Primer
(F):5'- GGGACTGTGGAAAGTGACATGTG -3'
(R):5'- AATCACGGATGCTTCCTGAGTGAC -3'
Posted On 2019-11-12