Incidental Mutation 'R9008:Acacb'
ID 723627
Institutional Source Beutler Lab
Gene Symbol Acacb
Ensembl Gene ENSMUSG00000042010
Gene Name acetyl-Coenzyme A carboxylase beta
Synonyms Acc2, Accb
MMRRC Submission 068838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9008 (G1)
Quality Score 152.008
Status Validated
Chromosome 5
Chromosomal Location 114284748-114388822 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 114386815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031583] [ENSMUST00000102582]
AlphaFold E9Q4Z2
Predicted Effect silent
Transcript: ENSMUST00000031583
SMART Domains Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 38 60 N/A INTRINSIC
Pfam:CPSase_L_chain 249 369 2.1e-32 PFAM
Pfam:CPSase_L_D2 405 606 3.3e-52 PFAM
Pfam:ATP-grasp_4 413 576 2.1e-9 PFAM
Biotin_carb_C 640 747 9.54e-26 SMART
Pfam:Biotin_lipoyl 885 951 1.9e-17 PFAM
Pfam:ACC_central 952 1678 2.2e-290 PFAM
Pfam:Carboxyl_trans 1770 2324 2.3e-181 PFAM
Predicted Effect silent
Transcript: ENSMUST00000102582
SMART Domains Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 38 60 N/A INTRINSIC
Pfam:CPSase_L_chain 249 369 8.2e-29 PFAM
Pfam:CPSase_L_D2 405 606 3.8e-52 PFAM
Pfam:ATP-grasp_4 409 576 1.4e-12 PFAM
Biotin_carb_C 640 747 9.54e-26 SMART
Pfam:Biotin_lipoyl 885 951 9.1e-17 PFAM
Pfam:ACC_central 952 1678 2.3e-250 PFAM
Pfam:Carboxyl_trans 1770 2324 4.8e-172 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (78/80)
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. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,849,162 (GRCm39) S536R probably damaging Het
Acsm1 T C 7: 119,258,325 (GRCm39) Y473H probably benign Het
Adam30 T A 3: 98,070,034 (GRCm39) C622* probably null Het
Adprs C T 4: 126,210,632 (GRCm39) V283M probably damaging Het
AI606181 G T 19: 41,582,032 (GRCm39) R67S unknown Het
Btbd3 A G 2: 138,125,453 (GRCm39) I212M probably benign Het
C1s1 C T 6: 124,509,499 (GRCm39) probably null Het
C7 T A 15: 5,040,409 (GRCm39) T539S Het
Cd5l A C 3: 87,275,972 (GRCm39) D314A probably damaging Het
Celsr3 T A 9: 108,706,151 (GRCm39) V878E possibly damaging Het
Cfap74 T C 4: 155,503,121 (GRCm39) S38P Het
Chst2 C T 9: 95,288,347 (GRCm39) probably benign Het
Deaf1 T C 7: 140,904,078 (GRCm39) T103A probably damaging Het
Deup1 T A 9: 15,511,140 (GRCm39) D213V probably damaging Het
Dhrs1 A G 14: 55,978,638 (GRCm39) probably null Het
Dnah7a A G 1: 53,701,501 (GRCm39) V218A possibly damaging Het
Dock7 G A 4: 98,833,448 (GRCm39) Q1950* probably null Het
Ehf G A 2: 103,097,173 (GRCm39) R283W Het
Elovl3 A T 19: 46,123,087 (GRCm39) N221I possibly damaging Het
Gm11938 A T 11: 99,493,966 (GRCm39) V43E probably damaging Het
Hmcn1 T C 1: 150,630,795 (GRCm39) probably benign Het
Hnf4g A G 3: 3,708,096 (GRCm39) N115S probably benign Het
Hnrnpr A T 4: 136,056,737 (GRCm39) N246Y probably damaging Het
Itpka A G 2: 119,579,894 (GRCm39) E211G probably damaging Het
Krt78 TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA 15: 101,855,211 (GRCm39) probably benign Het
Lcorl A T 5: 45,931,516 (GRCm39) probably benign Het
Lypd9 T A 11: 58,338,209 (GRCm39) E61V probably benign Het
Mgat5 T C 1: 127,407,308 (GRCm39) I658T probably damaging Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mov10 A G 3: 104,707,332 (GRCm39) Y606H probably benign Het
Naa38 T G 11: 69,287,148 (GRCm39) V76G probably damaging Het
Nelfe C A 17: 35,073,334 (GRCm39) P290T possibly damaging Het
Nfil3 A T 13: 53,121,609 (GRCm39) Y432N probably damaging Het
Nipbl T C 15: 8,356,608 (GRCm39) K1593E probably damaging Het
Nlrc3 G C 16: 3,776,807 (GRCm39) L56V possibly damaging Het
Nlrp1a A T 11: 71,014,735 (GRCm39) F172I possibly damaging Het
Ntn4 T A 10: 93,569,466 (GRCm39) probably benign Het
Nudt2 G A 4: 41,480,288 (GRCm39) R57Q probably damaging Het
Obsl1 A C 1: 75,482,027 (GRCm39) L281W probably benign Het
Olfm4 A T 14: 80,255,607 (GRCm39) N250I unknown Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or2m13 T A 16: 19,226,173 (GRCm39) I198F probably benign Het
Or2r2 T C 6: 42,463,903 (GRCm39) S75G probably damaging Het
Or5p50 A G 7: 107,422,628 (GRCm39) I16T possibly damaging Het
Pappa A T 4: 65,074,426 (GRCm39) T327S probably damaging Het
Pcdhb4 T G 18: 37,440,714 (GRCm39) M8R probably benign Het
Phf21b T A 15: 84,671,563 (GRCm39) I444F probably damaging Het
Pkd1l2 A C 8: 117,769,037 (GRCm39) V1205G probably benign Het
Plec T C 15: 76,060,232 (GRCm39) Y3235C probably damaging Het
Pnmt C T 11: 98,278,832 (GRCm39) T266I possibly damaging Het
Ppfia2 T A 10: 106,655,220 (GRCm39) D262E probably benign Het
Rabggta A T 14: 55,955,913 (GRCm39) L448Q probably damaging Het
Rap1gds1 C T 3: 138,661,177 (GRCm39) R449H probably benign Het
Rictor T A 15: 6,801,610 (GRCm39) probably benign Het
Rttn T C 18: 89,027,556 (GRCm39) F557S probably damaging Het
Ryr3 A G 2: 112,465,748 (GRCm39) C4809R probably damaging Het
Sacs A C 14: 61,441,992 (GRCm39) D1346A probably benign Het
Slain1 T A 14: 103,923,191 (GRCm39) S261T probably damaging Het
Slc22a4 C T 11: 53,881,664 (GRCm39) W351* probably null Het
Smpd3 C T 8: 106,984,058 (GRCm39) G554S probably benign Het
Spag17 C T 3: 99,934,942 (GRCm39) S716F possibly damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Spg11 C T 2: 121,900,413 (GRCm39) M1546I probably benign Het
Spmip11 T G 15: 98,486,493 (GRCm39) S88A possibly damaging Het
Stac3 C T 10: 127,339,454 (GRCm39) L117F probably damaging Het
Surf6 A G 2: 26,782,536 (GRCm39) W264R probably damaging Het
Taar7e T C 10: 23,913,810 (GRCm39) V100A probably damaging Het
Tenm3 T C 8: 48,795,688 (GRCm39) H534R probably damaging Het
Tinagl1 C A 4: 130,067,823 (GRCm39) R57L probably damaging Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Traf6 A G 2: 101,527,333 (GRCm39) Y361C possibly damaging Het
Ttn A T 2: 76,777,334 (GRCm39) probably benign Het
Ufl1 A T 4: 25,254,778 (GRCm39) Y559* probably null Het
Upk1b A T 16: 38,607,570 (GRCm39) N52K probably damaging Het
Uqcrb A G 13: 67,053,363 (GRCm39) S5P probably benign Het
Use1 A G 8: 71,819,688 (GRCm39) Y3C unknown Het
Usp9y T A Y: 1,434,993 (GRCm39) I279L possibly damaging Het
Vmn1r142 A G 7: 21,862,796 (GRCm39) L222P probably damaging Het
Vmn1r184 A C 7: 25,967,177 (GRCm39) N308H probably benign Het
Vmn2r14 C A 5: 109,367,893 (GRCm39) M366I probably benign Het
Vmn2r73 G T 7: 85,521,904 (GRCm39) S145Y probably damaging Het
Wdfy1 A T 1: 79,692,697 (GRCm39) W207R probably damaging Het
Zbtb38 A T 9: 96,569,100 (GRCm39) N661K probably benign Het
Zkscan3 G T 13: 21,572,383 (GRCm39) H416Q possibly damaging Het
Other mutations in Acacb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Acacb APN 5 114,338,350 (GRCm39) missense probably damaging 1.00
IGL01291:Acacb APN 5 114,363,931 (GRCm39) missense probably benign 0.03
IGL01301:Acacb APN 5 114,384,559 (GRCm39) missense probably benign
IGL01633:Acacb APN 5 114,356,919 (GRCm39) splice site probably benign
IGL01736:Acacb APN 5 114,326,503 (GRCm39) missense possibly damaging 0.96
IGL01782:Acacb APN 5 114,338,581 (GRCm39) missense probably damaging 1.00
IGL01924:Acacb APN 5 114,362,047 (GRCm39) splice site probably benign
IGL01933:Acacb APN 5 114,322,251 (GRCm39) splice site probably benign
IGL02028:Acacb APN 5 114,304,076 (GRCm39) missense probably damaging 1.00
IGL02045:Acacb APN 5 114,378,721 (GRCm39) missense possibly damaging 0.95
IGL02346:Acacb APN 5 114,376,760 (GRCm39) missense probably damaging 1.00
IGL02421:Acacb APN 5 114,361,939 (GRCm39) missense probably benign 0.00
IGL02445:Acacb APN 5 114,383,198 (GRCm39) missense probably damaging 1.00
IGL02491:Acacb APN 5 114,330,166 (GRCm39) missense probably damaging 1.00
IGL02598:Acacb APN 5 114,384,098 (GRCm39) missense probably damaging 1.00
IGL02700:Acacb APN 5 114,356,942 (GRCm39) missense probably damaging 1.00
IGL02730:Acacb APN 5 114,304,210 (GRCm39) splice site probably benign
IGL03110:Acacb APN 5 114,333,295 (GRCm39) missense probably damaging 0.96
IGL03125:Acacb APN 5 114,342,866 (GRCm39) missense possibly damaging 0.49
IGL03263:Acacb APN 5 114,351,754 (GRCm39) missense probably damaging 1.00
IGL03324:Acacb APN 5 114,363,915 (GRCm39) nonsense probably null
acetone UTSW 5 114,364,918 (GRCm39) nonsense probably null
anabolism UTSW 5 114,383,281 (GRCm39) missense possibly damaging 0.63
ANU05:Acacb UTSW 5 114,363,931 (GRCm39) missense probably benign 0.03
ANU18:Acacb UTSW 5 114,384,559 (GRCm39) missense probably benign
BB001:Acacb UTSW 5 114,383,281 (GRCm39) missense possibly damaging 0.63
BB011:Acacb UTSW 5 114,383,281 (GRCm39) missense possibly damaging 0.63
I0000:Acacb UTSW 5 114,376,716 (GRCm39) missense probably damaging 0.99
R0001:Acacb UTSW 5 114,342,894 (GRCm39) splice site probably benign
R0219:Acacb UTSW 5 114,371,005 (GRCm39) missense possibly damaging 0.79
R0234:Acacb UTSW 5 114,347,878 (GRCm39) missense probably damaging 0.99
R0234:Acacb UTSW 5 114,347,878 (GRCm39) missense probably damaging 0.99
R0278:Acacb UTSW 5 114,371,320 (GRCm39) nonsense probably null
R0607:Acacb UTSW 5 114,338,362 (GRCm39) missense probably damaging 1.00
R0964:Acacb UTSW 5 114,367,813 (GRCm39) missense possibly damaging 0.64
R1116:Acacb UTSW 5 114,349,017 (GRCm39) missense probably damaging 1.00
R1196:Acacb UTSW 5 114,383,153 (GRCm39) missense probably benign 0.00
R1204:Acacb UTSW 5 114,328,214 (GRCm39) missense probably damaging 1.00
R1387:Acacb UTSW 5 114,338,573 (GRCm39) missense probably benign
R1415:Acacb UTSW 5 114,303,982 (GRCm39) missense probably benign
R1475:Acacb UTSW 5 114,333,313 (GRCm39) missense possibly damaging 0.87
R1497:Acacb UTSW 5 114,334,868 (GRCm39) missense probably damaging 1.00
R1520:Acacb UTSW 5 114,340,001 (GRCm39) missense possibly damaging 0.67
R1591:Acacb UTSW 5 114,341,484 (GRCm39) missense possibly damaging 0.87
R1644:Acacb UTSW 5 114,333,346 (GRCm39) missense probably damaging 1.00
R1732:Acacb UTSW 5 114,328,148 (GRCm39) missense possibly damaging 0.63
R1783:Acacb UTSW 5 114,347,828 (GRCm39) frame shift probably null
R1784:Acacb UTSW 5 114,347,828 (GRCm39) frame shift probably null
R1834:Acacb UTSW 5 114,373,536 (GRCm39) missense probably damaging 1.00
R1858:Acacb UTSW 5 114,334,770 (GRCm39) missense probably benign 0.13
R1886:Acacb UTSW 5 114,357,020 (GRCm39) missense probably damaging 1.00
R1901:Acacb UTSW 5 114,303,795 (GRCm39) nonsense probably null
R1902:Acacb UTSW 5 114,303,795 (GRCm39) nonsense probably null
R1903:Acacb UTSW 5 114,303,795 (GRCm39) nonsense probably null
R1924:Acacb UTSW 5 114,368,781 (GRCm39) missense possibly damaging 0.67
R1934:Acacb UTSW 5 114,336,343 (GRCm39) missense probably benign 0.27
R2051:Acacb UTSW 5 114,383,951 (GRCm39) missense probably damaging 1.00
R2132:Acacb UTSW 5 114,347,828 (GRCm39) frame shift probably null
R2133:Acacb UTSW 5 114,347,828 (GRCm39) frame shift probably null
R2260:Acacb UTSW 5 114,354,978 (GRCm39) missense probably damaging 0.99
R2967:Acacb UTSW 5 114,304,131 (GRCm39) missense possibly damaging 0.81
R3421:Acacb UTSW 5 114,350,697 (GRCm39) splice site probably null
R3729:Acacb UTSW 5 114,345,409 (GRCm39) missense probably damaging 0.99
R4206:Acacb UTSW 5 114,351,712 (GRCm39) missense probably benign
R4245:Acacb UTSW 5 114,368,845 (GRCm39) missense probably damaging 0.97
R4386:Acacb UTSW 5 114,379,982 (GRCm39) critical splice acceptor site probably null
R4439:Acacb UTSW 5 114,384,557 (GRCm39) missense possibly damaging 0.50
R4577:Acacb UTSW 5 114,364,892 (GRCm39) missense probably damaging 1.00
R4658:Acacb UTSW 5 114,338,625 (GRCm39) missense probably damaging 0.96
R4688:Acacb UTSW 5 114,342,824 (GRCm39) missense probably benign 0.01
R4720:Acacb UTSW 5 114,367,975 (GRCm39) missense possibly damaging 0.73
R4898:Acacb UTSW 5 114,370,999 (GRCm39) missense probably benign 0.04
R5044:Acacb UTSW 5 114,304,088 (GRCm39) missense probably benign 0.03
R5070:Acacb UTSW 5 114,384,089 (GRCm39) missense possibly damaging 0.46
R5294:Acacb UTSW 5 114,380,013 (GRCm39) missense probably damaging 1.00
R5350:Acacb UTSW 5 114,382,612 (GRCm39) missense probably damaging 1.00
R5401:Acacb UTSW 5 114,347,914 (GRCm39) missense possibly damaging 0.80
R5531:Acacb UTSW 5 114,342,767 (GRCm39) missense possibly damaging 0.92
R5542:Acacb UTSW 5 114,333,798 (GRCm39) missense probably damaging 1.00
R5751:Acacb UTSW 5 114,368,893 (GRCm39) missense possibly damaging 0.79
R5821:Acacb UTSW 5 114,322,167 (GRCm39) missense possibly damaging 0.69
R5893:Acacb UTSW 5 114,367,912 (GRCm39) missense probably benign 0.01
R5911:Acacb UTSW 5 114,370,951 (GRCm39) missense probably damaging 0.97
R5944:Acacb UTSW 5 114,384,041 (GRCm39) missense probably damaging 1.00
R5973:Acacb UTSW 5 114,364,928 (GRCm39) missense probably damaging 1.00
R6027:Acacb UTSW 5 114,303,661 (GRCm39) missense probably benign 0.43
R6103:Acacb UTSW 5 114,383,942 (GRCm39) missense probably damaging 1.00
R6139:Acacb UTSW 5 114,350,713 (GRCm39) missense probably damaging 1.00
R6292:Acacb UTSW 5 114,338,312 (GRCm39) missense probably damaging 1.00
R6368:Acacb UTSW 5 114,354,884 (GRCm39) missense probably damaging 0.98
R6429:Acacb UTSW 5 114,366,652 (GRCm39) missense probably damaging 1.00
R6942:Acacb UTSW 5 114,330,024 (GRCm39) critical splice donor site probably null
R7138:Acacb UTSW 5 114,345,387 (GRCm39) missense probably benign 0.12
R7241:Acacb UTSW 5 114,383,161 (GRCm39) missense possibly damaging 0.94
R7254:Acacb UTSW 5 114,347,812 (GRCm39) critical splice acceptor site probably null
R7396:Acacb UTSW 5 114,351,722 (GRCm39) missense possibly damaging 0.87
R7439:Acacb UTSW 5 114,333,703 (GRCm39) missense possibly damaging 0.84
R7484:Acacb UTSW 5 114,356,923 (GRCm39) missense probably damaging 1.00
R7585:Acacb UTSW 5 114,384,073 (GRCm39) missense probably damaging 0.99
R7712:Acacb UTSW 5 114,303,799 (GRCm39) missense probably benign 0.13
R7868:Acacb UTSW 5 114,386,288 (GRCm39) missense probably benign 0.22
R7873:Acacb UTSW 5 114,361,339 (GRCm39) missense possibly damaging 0.88
R7924:Acacb UTSW 5 114,383,281 (GRCm39) missense possibly damaging 0.63
R7940:Acacb UTSW 5 114,304,108 (GRCm39) missense possibly damaging 0.77
R7951:Acacb UTSW 5 114,326,401 (GRCm39) missense probably damaging 1.00
R7960:Acacb UTSW 5 114,368,922 (GRCm39) missense probably benign 0.00
R7972:Acacb UTSW 5 114,364,918 (GRCm39) nonsense probably null
R8007:Acacb UTSW 5 114,356,935 (GRCm39) missense probably damaging 0.97
R8022:Acacb UTSW 5 114,361,915 (GRCm39) missense probably benign
R8030:Acacb UTSW 5 114,371,228 (GRCm39) missense probably damaging 1.00
R8241:Acacb UTSW 5 114,333,297 (GRCm39) missense possibly damaging 0.49
R8264:Acacb UTSW 5 114,345,427 (GRCm39) missense probably benign 0.00
R8292:Acacb UTSW 5 114,338,555 (GRCm39) critical splice acceptor site probably null
R8678:Acacb UTSW 5 114,340,032 (GRCm39) nonsense probably null
R8693:Acacb UTSW 5 114,364,844 (GRCm39) missense probably damaging 0.99
R8697:Acacb UTSW 5 114,351,441 (GRCm39) missense probably damaging 0.96
R8772:Acacb UTSW 5 114,322,179 (GRCm39) missense possibly damaging 0.73
R8918:Acacb UTSW 5 114,333,315 (GRCm39) missense probably damaging 1.00
R9044:Acacb UTSW 5 114,373,578 (GRCm39) missense probably benign 0.00
R9165:Acacb UTSW 5 114,354,744 (GRCm39) missense probably benign 0.01
R9231:Acacb UTSW 5 114,349,153 (GRCm39) missense probably benign 0.01
R9440:Acacb UTSW 5 114,384,085 (GRCm39) missense possibly damaging 0.56
R9444:Acacb UTSW 5 114,384,020 (GRCm39) missense probably damaging 0.99
R9562:Acacb UTSW 5 114,371,397 (GRCm39) missense probably damaging 0.99
R9794:Acacb UTSW 5 114,387,578 (GRCm39) missense probably benign 0.00
V1662:Acacb UTSW 5 114,376,769 (GRCm39) missense probably damaging 1.00
Z1176:Acacb UTSW 5 114,387,009 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTGCTGGAATGGAAGACTGC -3'
(R):5'- AGTCCCGCTTCAGATAATTGATG -3'

Sequencing Primer
(F):5'- GAATGGAAGACTGCCCGCAC -3'
(R):5'- TGGCTGACCAGTGCTGTTCC -3'
Posted On 2022-09-08