Incidental Mutation 'R7396:Acacb'
ID 573809
Institutional Source Beutler Lab
Gene Symbol Acacb
Ensembl Gene ENSMUSG00000042010
Gene Name acetyl-Coenzyme A carboxylase beta
Synonyms Acc2, Accb
MMRRC Submission 045478-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7396 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114284748-114388822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114351722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1153 (D1153G)
Ref Sequence ENSEMBL: ENSMUSP00000031583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031583] [ENSMUST00000102582]
AlphaFold E9Q4Z2
Predicted Effect possibly damaging
Transcript: ENSMUST00000031583
AA Change: D1153G

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: D1153G

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 possibly damaging
Transcript: ENSMUST00000102582
AA Change: D1153G

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: D1153G

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
Meta Mutation Damage Score 0.5461 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (79/79)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
Abcb5 A G 12: 118,831,609 (GRCm39) Y1248H probably damaging Het
Acsm3 T A 7: 119,373,052 (GRCm39) L185H probably damaging Het
Actr1a G A 19: 46,368,068 (GRCm39) T293I probably benign Het
Adig T C 2: 158,347,836 (GRCm39) L50P unknown Het
Ankrd28 A G 14: 31,424,159 (GRCm39) S994P probably benign Het
Ankrd35 T A 3: 96,590,813 (GRCm39) D366E probably damaging Het
Aqr A T 2: 113,950,427 (GRCm39) Y927* probably null Het
Asxl2 T A 12: 3,492,529 (GRCm39) I38N probably damaging Het
Atp9b T C 18: 80,780,057 (GRCm39) I1092V Het
B4galnt1 A G 10: 127,007,485 (GRCm39) E462G possibly damaging Het
BC048671 T A 6: 90,280,273 (GRCm39) V63E probably damaging Het
Bod1l A G 5: 41,988,889 (GRCm39) V406A probably damaging Het
Btn1a1 T G 13: 23,645,668 (GRCm39) I234L probably benign Het
Camk2b A C 11: 5,928,432 (GRCm39) S436A probably benign Het
Cc2d1a A T 8: 84,870,374 (GRCm39) probably null Het
Ces1b G T 8: 93,789,757 (GRCm39) N390K probably benign Het
Chpf T C 1: 75,451,927 (GRCm39) Q671R probably benign Het
Cspg4b T A 13: 113,455,524 (GRCm39) S523R Het
Dbr1 C A 9: 99,465,443 (GRCm39) N340K probably damaging Het
Dram1 T A 10: 88,176,507 (GRCm39) T73S probably benign Het
Efemp1 A T 11: 28,817,501 (GRCm39) R39S possibly damaging Het
Eif2b5 T G 16: 20,324,887 (GRCm39) I515S possibly damaging Het
Eif2d A T 1: 131,094,111 (GRCm39) N434I probably benign Het
Ercc6 C T 14: 32,291,762 (GRCm39) T1042I probably benign Het
Etl4 C T 2: 20,803,449 (GRCm39) P1057L possibly damaging Het
Fbxw16 T A 9: 109,278,091 (GRCm39) N29I probably damaging Het
Fbxw18 T C 9: 109,517,954 (GRCm39) D344G probably benign Het
Fgf15 G T 7: 144,453,542 (GRCm39) V172L probably benign Het
Fmod T C 1: 133,967,978 (GRCm39) V6A probably benign Het
Furin C A 7: 80,047,862 (GRCm39) R86L probably benign Het
Gabrr1 T C 4: 33,160,207 (GRCm39) V297A probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Helb T C 10: 119,925,476 (GRCm39) D967G probably benign Het
Hmcn1 T C 1: 150,439,382 (GRCm39) T5601A possibly damaging Het
Hsbp1l1 G T 18: 80,276,634 (GRCm39) P70Q not run Het
Hsd17b1 T C 11: 100,970,033 (GRCm39) V155A probably damaging Het
Ireb2 T A 9: 54,789,617 (GRCm39) M97K possibly damaging Het
Kcnj6 C A 16: 94,563,306 (GRCm39) L397F probably benign Het
Lcorl A T 5: 46,014,801 (GRCm39) probably null Het
Lgi2 A T 5: 52,695,753 (GRCm39) I402N probably damaging Het
Lrat T A 3: 82,810,590 (GRCm39) R144* probably null Het
Mfhas1 G T 8: 36,057,353 (GRCm39) L609F probably damaging Het
Mink1 T A 11: 70,495,994 (GRCm39) I398K possibly damaging Het
Muc5ac A T 7: 141,362,152 (GRCm39) D1821V unknown Het
Myh2 T C 11: 67,085,554 (GRCm39) probably null Het
Ncor1 T C 11: 62,234,044 (GRCm39) E386G probably damaging Het
Ndufaf3 C T 9: 108,443,802 (GRCm39) V76M probably damaging Het
Neurod4 T C 10: 130,106,891 (GRCm39) T128A probably damaging Het
Ogfod1 T A 8: 94,765,615 (GRCm39) D59E probably benign Het
Or2j6 C T 7: 139,980,476 (GRCm39) R161H probably benign Het
Or2w1b T C 13: 21,300,477 (GRCm39) V205A probably benign Het
Or52n2b C T 7: 104,565,558 (GRCm39) S315N probably benign Het
Pcdh15 T A 10: 74,466,522 (GRCm39) V1513D probably benign Het
Pclo C A 5: 14,589,902 (GRCm39) T734K unknown Het
Phc2 A G 4: 128,641,954 (GRCm39) R759G probably benign Het
Plch1 A T 3: 63,606,375 (GRCm39) N1176K probably benign Het
Plec T A 15: 76,059,089 (GRCm39) Y3616F probably damaging Het
Ptpn11 G T 5: 121,282,707 (GRCm39) T426N probably benign Het
Rictor A G 15: 6,816,462 (GRCm39) T1245A not run Het
Rilp T C 11: 75,401,712 (GRCm39) V164A probably damaging Het
Rnf39 A T 17: 37,257,971 (GRCm39) T168S probably damaging Het
Rptor C G 11: 119,763,181 (GRCm39) Q922E probably benign Het
Sall1 A T 8: 89,759,396 (GRCm39) L236Q probably damaging Het
Skint7 A G 4: 111,845,324 (GRCm39) T379A probably benign Het
Spata22 C A 11: 73,236,702 (GRCm39) T336N probably damaging Het
Spata31 T C 13: 65,068,547 (GRCm39) S232P probably benign Het
Spink5 T A 18: 44,110,722 (GRCm39) C98S possibly damaging Het
Stard6 T C 18: 70,633,506 (GRCm39) V171A possibly damaging Het
Tex9 A T 9: 72,388,072 (GRCm39) probably null Het
Traf7 T C 17: 24,728,519 (GRCm39) D621G probably damaging Het
Trak1 C T 9: 121,277,973 (GRCm39) T353M possibly damaging Het
Trim68 A T 7: 102,327,569 (GRCm39) Y461* probably null Het
Usp1 A G 4: 98,814,688 (GRCm39) probably benign Het
Vmn2r42 T A 7: 8,195,641 (GRCm39) I502F probably benign Het
Wbp4 C A 14: 79,714,261 (GRCm39) G84C probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp787 A G 7: 6,135,106 (GRCm39) *382Q probably null Het
Zfp831 G T 2: 174,487,002 (GRCm39) C559F possibly damaging Het
Zgpat G C 2: 181,007,882 (GRCm39) A140P probably benign Het
Zscan4e T A 7: 11,041,002 (GRCm39) Y290F probably benign 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
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
R9008:Acacb UTSW 5 114,386,815 (GRCm39) splice site silent
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'- GTTGCCACAAGTTATGGGC -3'
(R):5'- CTGGACCTTTCTAGAAAATAGTTGGG -3'

Sequencing Primer
(F):5'- CCACAAGTTATGGGCAGAGC -3'
(R):5'- TTCGTGACAGAGAACTTGCC -3'
Posted On 2019-09-13