Mutagenetix > Incidental Mutation

Incidental Mutation 'R6429:Acacb'

518421

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

044567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114228591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1565 (E1565K)

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: E1565K

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

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: E1565K

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: E1565K

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

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: E1565K

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,042 (GRCm38)		probably benign	Het
Amy1	T	C	3: 113,569,509 (GRCm38)	N63S	probably damaging	Het
Arhgef15	G	T	11: 68,947,796 (GRCm38)	N591K	probably damaging	Het
AW551984	A	G	9: 39,600,614 (GRCm38)	S34P	probably damaging	Het
C2cd3	A	G	7: 100,432,091 (GRCm38)	D127G	probably damaging	Het
Ccdc87	T	A	19: 4,841,235 (GRCm38)	V585E	probably benign	Het
Cul2	T	C	18: 3,421,345 (GRCm38)	I223T	probably damaging	Het
Dgkq	C	T	5: 108,653,708 (GRCm38)	V495M	probably damaging	Het
Dpp10	A	G	1: 123,367,601 (GRCm38)	I570T	possibly damaging	Het
Dstyk	C	T	1: 132,449,804 (GRCm38)	Q383*	probably null	Het
Emilin2	C	A	17: 71,310,956 (GRCm38)		probably benign	Het
Fnip1	A	G	11: 54,515,567 (GRCm38)	I1163M	probably damaging	Het
Fryl	C	T	5: 73,090,751 (GRCm38)	E1008K	possibly damaging	Het
Gm15448	A	T	7: 3,822,346 (GRCm38)	H432Q	possibly damaging	Het
Gm35315	A	T	5: 110,078,659 (GRCm38)	Y305N	possibly damaging	Het
Grhl3	T	A	4: 135,557,196 (GRCm38)	D195V	probably damaging	Het
Il33	T	C	19: 29,952,000 (GRCm38)	F41S	probably benign	Het
Il4	A	G	11: 53,613,909 (GRCm38)	S15P	possibly damaging	Het
Inf2	C	T	12: 112,604,256 (GRCm38)	P410S	probably benign	Het
Kalrn	T	A	16: 34,332,164 (GRCm38)	D349V	possibly damaging	Het
Krt4	A	G	15: 101,922,794 (GRCm38)	M224T	probably benign	Het
Lrp2	C	T	2: 69,461,287 (GRCm38)	S3516N	probably damaging	Het
Macf1	A	T	4: 123,401,594 (GRCm38)		probably null	Het
Msr1	G	A	8: 39,615,817 (GRCm38)	P213S	probably damaging	Het
Nptx1	G	T	11: 119,544,721 (GRCm38)	C256*	probably null	Het
Nr1d1	T	C	11: 98,772,014 (GRCm38)	Y51C	probably damaging	Het
Olfr1205	G	A	2: 88,831,525 (GRCm38)	R136Q	probably benign	Het
Panx3	T	C	9: 37,661,165 (GRCm38)	D363G	probably damaging	Het
Prkag1	A	G	15: 98,814,523 (GRCm38)	F143L	probably damaging	Het
Ptger4	T	C	15: 5,242,997 (GRCm38)	K72R	possibly damaging	Het
Pvrig	A	G	5: 138,342,050 (GRCm38)	T28A	probably benign	Het
Rhod	C	T	19: 4,426,105 (GRCm38)	C206Y	probably benign	Het
Rngtt	C	A	4: 33,320,606 (GRCm38)	S51*	probably null	Het
Rreb1	T	G	13: 37,932,129 (GRCm38)	S1155A	probably benign	Het
Scn9a	A	C	2: 66,526,963 (GRCm38)	I998S	possibly damaging	Het
Sfmbt1	T	A	14: 30,773,911 (GRCm38)	F50L	probably damaging	Het
Six4	A	T	12: 73,103,473 (GRCm38)	V766D	probably damaging	Het
Smpd1	T	C	7: 105,556,928 (GRCm38)	I421T	probably damaging	Het
Son	T	A	16: 91,658,166 (GRCm38)	M1267K	probably benign	Het
Styk1	T	A	6: 131,310,064 (GRCm38)	D156V	possibly damaging	Het
Supt3	A	G	17: 45,119,143 (GRCm38)	E361G	probably benign	Het
Tbx3	T	A	5: 119,674,191 (GRCm38)	Y185*	probably null	Het
Tmem2	T	C	19: 21,801,908 (GRCm38)	C361R	probably benign	Het
Trpm1	A	T	7: 64,268,504 (GRCm38)	T531S	probably benign	Het
Tspan32	T	A	7: 143,018,742 (GRCm38)	W172R	possibly damaging	Het
Ttc26	T	A	6: 38,398,313 (GRCm38)	S250T	possibly damaging	Het
Urb1	A	T	16: 90,762,430 (GRCm38)		probably null	Het
Vmn2r70	T	A	7: 85,559,068 (GRCm38)	I734F	probably damaging	Het
Vwa7	A	G	17: 35,024,199 (GRCm38)	T618A	probably benign	Het
Wac	T	A	18: 7,920,163 (GRCm38)	V339E	probably damaging	Het
Wrn	G	A	8: 33,342,996 (GRCm38)	T156M	probably damaging	Het
Zeb1	T	A	18: 5,770,498 (GRCm38)	C884S	probably damaging	Het
Zmpste24	A	G	4: 121,095,670 (GRCm38)	V10A	probably damaging	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
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
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'- CCACAGTGTAGATGTCTGAGG -3'
(R):5'- ATCCTAGAACTTGGGCCTGGAG -3'

Sequencing Primer
(F):5'- ACAGCCTCAACAGCTTTCTG -3'
(R):5'- AGGACCGGGAGACTTGACC -3'

Posted On

2018-05-24