Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01782:Acacb'

153940

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01782

Quality Score

Status

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114200520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 764 (G764W)

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: G764W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: G764W

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: G764W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: G764W

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: ENSMUST00000143276

Coding Region Coverage

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. 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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	C	9: 63,616,713 (GRCm38)	V34A	probably benign	Het
Adam34l	T	A	8: 43,626,735 (GRCm38)	T151S	probably benign	Het
Ankib1	A	G	5: 3,727,607 (GRCm38)	C428R	probably damaging	Het
Card11	A	G	5: 140,927,726 (GRCm38)	M1T	probably null	Het
Ccdc62	T	A	5: 123,954,576 (GRCm38)	N541K	possibly damaging	Het
Cep290	C	T	10: 100,545,125 (GRCm38)	Q1742*	probably null	Het
Cyp2c23	T	C	19: 44,029,115 (GRCm38)	T25A	possibly damaging	Het
Dtx2	C	A	5: 136,010,127 (GRCm38)	Y13*	probably null	Het
Dync1h1	T	C	12: 110,614,940 (GRCm38)	I273T	probably damaging	Het
Etfb	A	G	7: 43,454,542 (GRCm38)	T134A	probably damaging	Het
Fig4	A	C	10: 41,270,400 (GRCm38)	L182R	probably benign	Het
Gm10220	A	T	5: 26,117,023 (GRCm38)	L217Q	probably damaging	Het
Gm4871	T	G	5: 145,030,360 (GRCm38)		probably benign	Het
Gm5464	T	C	14: 66,869,388 (GRCm38)		probably benign	Het
Lurap1	A	G	4: 116,144,503 (GRCm38)		probably benign	Het
Mmp17	T	A	5: 129,602,141 (GRCm38)	V368E	probably damaging	Het
Mrpl22	T	A	11: 58,171,844 (GRCm38)		probably null	Het
Nisch	G	A	14: 31,176,639 (GRCm38)		probably benign	Het
Odf4	A	T	11: 68,926,633 (GRCm38)	H76Q	probably damaging	Het
Or2t48	T	A	11: 58,529,159 (GRCm38)	M276L	probably benign	Het
Or6c207	C	T	10: 129,269,039 (GRCm38)	V95I	probably benign	Het
Orc1	T	C	4: 108,606,268 (GRCm38)	S661P	possibly damaging	Het
Otud4	T	G	8: 79,673,011 (GRCm38)	F784V	possibly damaging	Het
Prkch	A	G	12: 73,759,662 (GRCm38)	D561G	probably damaging	Het
Pttg1ip	T	C	10: 77,581,929 (GRCm38)		probably null	Het
Ranbp2	A	G	10: 58,478,309 (GRCm38)	K1617R	probably damaging	Het
Rarb	T	G	14: 16,434,180 (GRCm38)	S333R	probably damaging	Het
Rps6ka2	A	G	17: 7,236,124 (GRCm38)	K99E	probably benign	Het
Sel1l2	A	T	2: 140,243,935 (GRCm38)	W542R	probably damaging	Het
Sema3g	G	T	14: 31,227,791 (GRCm38)	R643L	probably damaging	Het
Sltm	T	A	9: 70,573,641 (GRCm38)	D258E	probably damaging	Het
Stx18	G	A	5: 38,106,611 (GRCm38)	V80I	possibly damaging	Het
Taar2	A	T	10: 23,941,144 (GRCm38)	N194I	probably damaging	Het
Ube2r2	T	C	4: 41,174,129 (GRCm38)		probably null	Het
Unk	C	A	11: 116,058,379 (GRCm38)	N645K	probably benign	Het
Vmn1r73	A	G	7: 11,756,738 (GRCm38)	K161R	probably benign	Het
Vps13a	T	C	19: 16,754,337 (GRCm38)	D137G	probably damaging	Het
Xrra1	A	G	7: 99,875,194 (GRCm38)	T104A	possibly damaging	Het
Zfp410	T	A	12: 84,327,274 (GRCm38)		probably benign	Het
Zfp764l1	T	C	7: 127,393,304 (GRCm38)	T45A	probably benign	Het

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
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
I0000:Acacb	UTSW	5	114,238,655 (GRCm38)	missense	probably damaging	0.99
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

2014-02-04