Mutagenetix > Incidental Mutation

Incidental Mutation 'I0000:Acacb'

17661

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

I0000 (G3) of strain 635

Quality Score

Status

Validated

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114238655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1933 (V1933A)

Ref Sequence

ENSEMBL: ENSMUSP00000099642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031583] [ENSMUST00000102582]

AlphaFold

E9Q4Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031583
AA Change: V1933A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: V1933A

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000102582
AA Change: V1933A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: V1933A

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143276

Meta Mutation Damage Score

0.4471

Coding Region Coverage

1x: 90.9%
3x: 86.6%

Validation Efficiency

67% (62/92)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,711,192 (GRCm38)	F467I	probably damaging	Het
Ankrd55	A	T	13: 112,348,725 (GRCm38)		probably benign	Het
Bfsp1	T	C	2: 143,845,968 (GRCm38)	Y179C	probably damaging	Het
Ccdc61	A	G	7: 18,903,549 (GRCm38)	I51T	probably damaging	Het
Ccdc81	A	G	7: 89,898,051 (GRCm38)	L43P	probably damaging	Het
Ddias	A	G	7: 92,866,640 (GRCm38)	V15A	possibly damaging	Het
Dpp6	A	T	5: 27,398,922 (GRCm38)	T62S	probably benign	Het
Ereg	G	A	5: 91,089,209 (GRCm38)	C129Y	probably benign	Het
Fras1	G	A	5: 96,740,829 (GRCm38)	G2745S	probably damaging	Het
Gzf1	C	T	2: 148,686,620 (GRCm38)		probably benign	Het
Herc2	T	A	7: 56,136,729 (GRCm38)		probably benign	Het
Hsd17b4	A	G	18: 50,160,228 (GRCm38)	D278G	probably benign	Homo
Ifitm3	A	G	7: 141,010,528 (GRCm38)	S40P	possibly damaging	Het
Klf5	C	T	14: 99,303,475 (GRCm38)	T307M	probably damaging	Homo
Lnpep	A	T	17: 17,578,971 (GRCm38)	C141S	probably damaging	Homo
Mmp19	A	T	10: 128,798,460 (GRCm38)	D362V	probably benign	Het
Or4a72	T	C	2: 89,575,153 (GRCm38)	Y191C	probably damaging	Het
Pnpla6	G	A	8: 3,542,322 (GRCm38)	A1222T	probably benign	Het
Rbm26	C	A	14: 105,153,567 (GRCm38)	R161L	unknown	Homo
Selenon	G	A	4: 134,542,701 (GRCm38)		probably benign	Het
Septin11	A	G	5: 93,165,259 (GRCm38)	T322A	probably benign	Het
Sh3bp4	T	A	1: 89,137,796 (GRCm38)	D37E	probably benign	Het
Tango2	G	A	16: 18,312,666 (GRCm38)	R80W	possibly damaging	Homo
Tjap1	C	T	17: 46,259,029 (GRCm38)	C345Y	probably damaging	Homo
Wdr62	T	C	7: 30,245,327 (GRCm38)	D455G	probably benign	Het
Zbtb48	A	G	4: 152,019,858 (GRCm38)	I671T	probably benign	Het
Zfp318	T	C	17: 46,399,559 (GRCm38)	L736P	probably damaging	Homo

Other mutations in Acacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Acacb	APN	5	114,200,289 (GRCm38)	missense	probably damaging	1.00
IGL01291:Acacb	APN	5	114,225,870 (GRCm38)	missense	probably benign	0.03
IGL01301:Acacb	APN	5	114,246,498 (GRCm38)	missense	probably benign
IGL01633:Acacb	APN	5	114,218,858 (GRCm38)	splice site	probably benign
IGL01736:Acacb	APN	5	114,188,442 (GRCm38)	missense	possibly damaging	0.96
IGL01782:Acacb	APN	5	114,200,520 (GRCm38)	missense	probably damaging	1.00
IGL01924:Acacb	APN	5	114,223,986 (GRCm38)	splice site	probably benign
IGL01933:Acacb	APN	5	114,184,190 (GRCm38)	splice site	probably benign
IGL02028:Acacb	APN	5	114,166,015 (GRCm38)	missense	probably damaging	1.00
IGL02045:Acacb	APN	5	114,240,660 (GRCm38)	missense	possibly damaging	0.95
IGL02346:Acacb	APN	5	114,238,699 (GRCm38)	missense	probably damaging	1.00
IGL02421:Acacb	APN	5	114,223,878 (GRCm38)	missense	probably benign	0.00
IGL02445:Acacb	APN	5	114,245,137 (GRCm38)	missense	probably damaging	1.00
IGL02491:Acacb	APN	5	114,192,105 (GRCm38)	missense	probably damaging	1.00
IGL02598:Acacb	APN	5	114,246,037 (GRCm38)	missense	probably damaging	1.00
IGL02700:Acacb	APN	5	114,218,881 (GRCm38)	missense	probably damaging	1.00
IGL02730:Acacb	APN	5	114,166,149 (GRCm38)	splice site	probably benign
IGL03110:Acacb	APN	5	114,195,234 (GRCm38)	missense	probably damaging	0.96
IGL03125:Acacb	APN	5	114,204,805 (GRCm38)	missense	possibly damaging	0.49
IGL03263:Acacb	APN	5	114,213,693 (GRCm38)	missense	probably damaging	1.00
IGL03324:Acacb	APN	5	114,225,854 (GRCm38)	nonsense	probably null
acetone	UTSW	5	114,226,857 (GRCm38)	nonsense	probably null
anabolism	UTSW	5	114,245,220 (GRCm38)	missense	possibly damaging	0.63
ANU05:Acacb	UTSW	5	114,225,870 (GRCm38)	missense	probably benign	0.03
ANU18:Acacb	UTSW	5	114,246,498 (GRCm38)	missense	probably benign
BB001:Acacb	UTSW	5	114,245,220 (GRCm38)	missense	possibly damaging	0.63
BB011:Acacb	UTSW	5	114,245,220 (GRCm38)	missense	possibly damaging	0.63
R0001:Acacb	UTSW	5	114,204,833 (GRCm38)	splice site	probably benign
R0219:Acacb	UTSW	5	114,232,944 (GRCm38)	missense	possibly damaging	0.79
R0234:Acacb	UTSW	5	114,209,817 (GRCm38)	missense	probably damaging	0.99
R0234:Acacb	UTSW	5	114,209,817 (GRCm38)	missense	probably damaging	0.99
R0278:Acacb	UTSW	5	114,233,259 (GRCm38)	nonsense	probably null
R0607:Acacb	UTSW	5	114,200,301 (GRCm38)	missense	probably damaging	1.00
R0964:Acacb	UTSW	5	114,229,752 (GRCm38)	missense	possibly damaging	0.64
R1116:Acacb	UTSW	5	114,210,956 (GRCm38)	missense	probably damaging	1.00
R1196:Acacb	UTSW	5	114,245,092 (GRCm38)	missense	probably benign	0.00
R1204:Acacb	UTSW	5	114,190,153 (GRCm38)	missense	probably damaging	1.00
R1387:Acacb	UTSW	5	114,200,512 (GRCm38)	missense	probably benign
R1415:Acacb	UTSW	5	114,165,921 (GRCm38)	missense	probably benign
R1475:Acacb	UTSW	5	114,195,252 (GRCm38)	missense	possibly damaging	0.87
R1497:Acacb	UTSW	5	114,196,807 (GRCm38)	missense	probably damaging	1.00
R1520:Acacb	UTSW	5	114,201,940 (GRCm38)	missense	possibly damaging	0.67
R1591:Acacb	UTSW	5	114,203,423 (GRCm38)	missense	possibly damaging	0.87
R1644:Acacb	UTSW	5	114,195,285 (GRCm38)	missense	probably damaging	1.00
R1732:Acacb	UTSW	5	114,190,087 (GRCm38)	missense	possibly damaging	0.63
R1783:Acacb	UTSW	5	114,209,767 (GRCm38)	frame shift	probably null
R1784:Acacb	UTSW	5	114,209,767 (GRCm38)	frame shift	probably null
R1834:Acacb	UTSW	5	114,235,475 (GRCm38)	missense	probably damaging	1.00
R1858:Acacb	UTSW	5	114,196,709 (GRCm38)	missense	probably benign	0.13
R1886:Acacb	UTSW	5	114,218,959 (GRCm38)	missense	probably damaging	1.00
R1901:Acacb	UTSW	5	114,165,734 (GRCm38)	nonsense	probably null
R1902:Acacb	UTSW	5	114,165,734 (GRCm38)	nonsense	probably null
R1903:Acacb	UTSW	5	114,165,734 (GRCm38)	nonsense	probably null
R1924:Acacb	UTSW	5	114,230,720 (GRCm38)	missense	possibly damaging	0.67
R1934:Acacb	UTSW	5	114,198,282 (GRCm38)	missense	probably benign	0.27
R2051:Acacb	UTSW	5	114,245,890 (GRCm38)	missense	probably damaging	1.00
R2132:Acacb	UTSW	5	114,209,767 (GRCm38)	frame shift	probably null
R2133:Acacb	UTSW	5	114,209,767 (GRCm38)	frame shift	probably null
R2260:Acacb	UTSW	5	114,216,917 (GRCm38)	missense	probably damaging	0.99
R2967:Acacb	UTSW	5	114,166,070 (GRCm38)	missense	possibly damaging	0.81
R3421:Acacb	UTSW	5	114,212,636 (GRCm38)	splice site	probably null
R3729:Acacb	UTSW	5	114,207,348 (GRCm38)	missense	probably damaging	0.99
R4206:Acacb	UTSW	5	114,213,651 (GRCm38)	missense	probably benign
R4245:Acacb	UTSW	5	114,230,784 (GRCm38)	missense	probably damaging	0.97
R4386:Acacb	UTSW	5	114,241,921 (GRCm38)	critical splice acceptor site	probably null
R4439:Acacb	UTSW	5	114,246,496 (GRCm38)	missense	possibly damaging	0.50
R4577:Acacb	UTSW	5	114,226,831 (GRCm38)	missense	probably damaging	1.00
R4658:Acacb	UTSW	5	114,200,564 (GRCm38)	missense	probably damaging	0.96
R4688:Acacb	UTSW	5	114,204,763 (GRCm38)	missense	probably benign	0.01
R4720:Acacb	UTSW	5	114,229,914 (GRCm38)	missense	possibly damaging	0.73
R4898:Acacb	UTSW	5	114,232,938 (GRCm38)	missense	probably benign	0.04
R5044:Acacb	UTSW	5	114,166,027 (GRCm38)	missense	probably benign	0.03
R5070:Acacb	UTSW	5	114,246,028 (GRCm38)	missense	possibly damaging	0.46
R5294:Acacb	UTSW	5	114,241,952 (GRCm38)	missense	probably damaging	1.00
R5350:Acacb	UTSW	5	114,244,551 (GRCm38)	missense	probably damaging	1.00
R5401:Acacb	UTSW	5	114,209,853 (GRCm38)	missense	possibly damaging	0.80
R5531:Acacb	UTSW	5	114,204,706 (GRCm38)	missense	possibly damaging	0.92
R5542:Acacb	UTSW	5	114,195,737 (GRCm38)	missense	probably damaging	1.00
R5751:Acacb	UTSW	5	114,230,832 (GRCm38)	missense	possibly damaging	0.79
R5821:Acacb	UTSW	5	114,184,106 (GRCm38)	missense	possibly damaging	0.69
R5893:Acacb	UTSW	5	114,229,851 (GRCm38)	missense	probably benign	0.01
R5911:Acacb	UTSW	5	114,232,890 (GRCm38)	missense	probably damaging	0.97
R5944:Acacb	UTSW	5	114,245,980 (GRCm38)	missense	probably damaging	1.00
R5973:Acacb	UTSW	5	114,226,867 (GRCm38)	missense	probably damaging	1.00
R6027:Acacb	UTSW	5	114,165,600 (GRCm38)	missense	probably benign	0.43
R6103:Acacb	UTSW	5	114,245,881 (GRCm38)	missense	probably damaging	1.00
R6139:Acacb	UTSW	5	114,212,652 (GRCm38)	missense	probably damaging	1.00
R6292:Acacb	UTSW	5	114,200,251 (GRCm38)	missense	probably damaging	1.00
R6368:Acacb	UTSW	5	114,216,823 (GRCm38)	missense	probably damaging	0.98
R6429:Acacb	UTSW	5	114,228,591 (GRCm38)	missense	probably damaging	1.00
R6942:Acacb	UTSW	5	114,191,963 (GRCm38)	critical splice donor site	probably null
R7138:Acacb	UTSW	5	114,207,326 (GRCm38)	missense	probably benign	0.12
R7241:Acacb	UTSW	5	114,245,100 (GRCm38)	missense	possibly damaging	0.94
R7254:Acacb	UTSW	5	114,209,751 (GRCm38)	critical splice acceptor site	probably null
R7396:Acacb	UTSW	5	114,213,661 (GRCm38)	missense	possibly damaging	0.87
R7439:Acacb	UTSW	5	114,195,642 (GRCm38)	missense	possibly damaging	0.84
R7484:Acacb	UTSW	5	114,218,862 (GRCm38)	missense	probably damaging	1.00
R7585:Acacb	UTSW	5	114,246,012 (GRCm38)	missense	probably damaging	0.99
R7712:Acacb	UTSW	5	114,165,738 (GRCm38)	missense	probably benign	0.13
R7868:Acacb	UTSW	5	114,248,227 (GRCm38)	missense	probably benign	0.22
R7873:Acacb	UTSW	5	114,223,278 (GRCm38)	missense	possibly damaging	0.88
R7924:Acacb	UTSW	5	114,245,220 (GRCm38)	missense	possibly damaging	0.63
R7940:Acacb	UTSW	5	114,166,047 (GRCm38)	missense	possibly damaging	0.77
R7951:Acacb	UTSW	5	114,188,340 (GRCm38)	missense	probably damaging	1.00
R7960:Acacb	UTSW	5	114,230,861 (GRCm38)	missense	probably benign	0.00
R7972:Acacb	UTSW	5	114,226,857 (GRCm38)	nonsense	probably null
R8007:Acacb	UTSW	5	114,218,874 (GRCm38)	missense	probably damaging	0.97
R8022:Acacb	UTSW	5	114,223,854 (GRCm38)	missense	probably benign
R8030:Acacb	UTSW	5	114,233,167 (GRCm38)	missense	probably damaging	1.00
R8241:Acacb	UTSW	5	114,195,236 (GRCm38)	missense	possibly damaging	0.49
R8264:Acacb	UTSW	5	114,207,366 (GRCm38)	missense	probably benign	0.00
R8292:Acacb	UTSW	5	114,200,494 (GRCm38)	critical splice acceptor site	probably null
R8678:Acacb	UTSW	5	114,201,971 (GRCm38)	nonsense	probably null
R8693:Acacb	UTSW	5	114,226,783 (GRCm38)	missense	probably damaging	0.99
R8697:Acacb	UTSW	5	114,213,380 (GRCm38)	missense	probably damaging	0.96
R8772:Acacb	UTSW	5	114,184,118 (GRCm38)	missense	possibly damaging	0.73
R8918:Acacb	UTSW	5	114,195,254 (GRCm38)	missense	probably damaging	1.00
R9008:Acacb	UTSW	5	114,248,754 (GRCm38)	splice site	silent
R9044:Acacb	UTSW	5	114,235,517 (GRCm38)	missense	probably benign	0.00
R9165:Acacb	UTSW	5	114,216,683 (GRCm38)	missense	probably benign	0.01
R9231:Acacb	UTSW	5	114,211,092 (GRCm38)	missense	probably benign	0.01
R9440:Acacb	UTSW	5	114,246,024 (GRCm38)	missense	possibly damaging	0.56
R9444:Acacb	UTSW	5	114,245,959 (GRCm38)	missense	probably damaging	0.99
R9562:Acacb	UTSW	5	114,233,336 (GRCm38)	missense	probably damaging	0.99
R9794:Acacb	UTSW	5	114,249,517 (GRCm38)	missense	probably benign	0.00
V1662:Acacb	UTSW	5	114,238,708 (GRCm38)	missense	probably damaging	1.00
Z1176:Acacb	UTSW	5	114,248,948 (GRCm38)	missense	probably benign	0.02

Posted On

2013-01-31