Mutagenetix > Incidental Mutation

Incidental Mutation 'R4386:Acacb'

326220

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

041680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4386 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 114241921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099642 (fasta)

Gene Model

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

AlphaFold

E9Q4Z2

Predicted Effect

probably null
Transcript: ENSMUST00000031583

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010

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 null
Transcript: ENSMUST00000102582

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010

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

probably null
Transcript: ENSMUST00000102582

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010

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

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	T	7: 119,773,871 (GRCm38)	W199L	probably damaging	Het
Arap1	T	A	7: 101,385,571 (GRCm38)	D236E	probably benign	Het
Arhgap1	T	C	2: 91,668,237 (GRCm38)	Y160H	probably damaging	Het
Arid1b	A	G	17: 4,994,972 (GRCm38)		probably benign	Het
Cdc25a	A	G	9: 109,889,733 (GRCm38)	E334G	probably damaging	Het
Ciz1	C	T	2: 32,370,099 (GRCm38)	T219M	possibly damaging	Het
Cluap1	A	C	16: 3,933,722 (GRCm38)	D315A	possibly damaging	Het
Cps1	T	C	1: 67,170,995 (GRCm38)		probably null	Het
Cul2	T	C	18: 3,434,856 (GRCm38)	S668P	probably damaging	Het
Fah	T	A	7: 84,599,136 (GRCm38)	T125S	probably damaging	Het
Fam129c	A	G	8: 71,607,511 (GRCm38)		probably benign	Het
Fam221a	G	A	6: 49,378,432 (GRCm38)	C156Y	probably damaging	Het
Gm6158	G	T	14: 24,070,294 (GRCm38)		noncoding transcript	Het
Hbq1b	T	A	11: 32,287,295 (GRCm38)	V63E	probably damaging	Het
Ighv6-5	G	A	12: 114,416,717 (GRCm38)	T79I	possibly damaging	Het
Kif12	G	A	4: 63,171,218 (GRCm38)	T99M	probably damaging	Het
Kif1a	T	A	1: 93,068,550 (GRCm38)	K298M	probably damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lama1	A	G	17: 67,773,712 (GRCm38)	Q1245R	probably benign	Het
March4	G	A	1: 72,428,814 (GRCm38)	P353L	probably benign	Het
Nadk	A	T	4: 155,582,575 (GRCm38)		probably benign	Het
Ncoa2	T	C	1: 13,177,165 (GRCm38)	T345A	probably damaging	Het
Nsun6	T	A	2: 14,996,522 (GRCm38)	M408L	probably benign	Het
Nuak1	T	A	10: 84,394,044 (GRCm38)	E155V	probably damaging	Het
Olfr1395	T	A	11: 49,149,015 (GRCm38)	Y253N	probably damaging	Het
Olfr157	C	T	4: 43,836,124 (GRCm38)	R122H	probably benign	Het
Olfr291	T	C	7: 84,856,548 (GRCm38)	Y60H	probably damaging	Het
Olfr510	T	A	7: 108,668,253 (GRCm38)	V279E	probably damaging	Het
Oosp1	C	T	19: 11,667,794 (GRCm38)	V169I	possibly damaging	Het
Pabpc2	T	C	18: 39,775,185 (GRCm38)	V501A	probably benign	Het
Pik3c2a	A	G	7: 116,354,099 (GRCm38)	V1187A	probably damaging	Het
Pkhd1	A	G	1: 20,414,292 (GRCm38)	V2013A	probably benign	Het
Psmd1	T	A	1: 86,128,192 (GRCm38)	S759T	possibly damaging	Het
Scgb1b2	T	A	7: 31,290,664 (GRCm38)	K86N	possibly damaging	Het
Sdk1	T	C	5: 142,094,626 (GRCm38)	I1291T	probably damaging	Het
Skint5	T	C	4: 113,483,893 (GRCm38)	Y1396C	probably benign	Het
Slc24a3	A	G	2: 145,606,826 (GRCm38)	E380G	probably benign	Het
Spock1	A	G	13: 57,440,450 (GRCm38)	S270P	probably damaging	Het
Tmem128	T	C	5: 38,262,074 (GRCm38)	S57P	probably damaging	Het
Tmem186	G	A	16: 8,636,023 (GRCm38)	R125W	probably benign	Het
Tnfaip3	A	G	10: 19,007,010 (GRCm38)	S220P	probably damaging	Het
Usp45	T	C	4: 21,830,505 (GRCm38)		probably null	Het
Usp5	C	T	6: 124,818,474 (GRCm38)		probably null	Het
Vmn1r35	A	T	6: 66,679,589 (GRCm38)	C32*	probably null	Het
Vmn2r112	T	A	17: 22,601,322 (GRCm38)	F59I	probably benign	Het
Wfdc9	A	T	2: 164,650,538 (GRCm38)	S56R	probably benign	Het
Zfp369	A	G	13: 65,296,992 (GRCm38)	I650V	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGGGAGTTTGAATACCCC -3'
(R):5'- CCAGCCTAGTGCCTGAGAGG -3'

Sequencing Primer
(F):5'- CCCAGAAATGAATTCCCGTCTTGATG -3'
(R):5'- CCTGAGAGGCCCCATGC -3'

Posted On

2015-07-06