Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Acacb'

713578

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114246024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 2205 (C2205S)

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: C2205S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: C2205S

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

possibly damaging
Transcript: ENSMUST00000102582
AA Change: C2205S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: C2205S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,280,478 (GRCm38)	T1359M	probably benign	Het
Akap3	A	G	6: 126,864,628 (GRCm38)	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244 (GRCm38)		probably null	Het
Asb4	A	G	6: 5,429,817 (GRCm38)	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715 (GRCm38)	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215 (GRCm38)	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256 (GRCm38)	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994 (GRCm38)	D191V	probably benign	Het
Cfap298	A	T	16: 90,929,944 (GRCm38)	V116E	probably benign	Het
Cfd	T	C	10: 79,890,982 (GRCm38)		probably null	Het
Cnot3	G	A	7: 3,653,561 (GRCm38)	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346 (GRCm38)	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291 (GRCm38)	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384 (GRCm38)	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574 (GRCm38)	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069 (GRCm38)	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077 (GRCm38)	V20A		Het
Gorasp2	T	C	2: 70,711,125 (GRCm38)		probably null	Het
Gpr179	A	G	11: 97,338,489 (GRCm38)	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723 (GRCm38)	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789 (GRCm38)	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588 (GRCm38)	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332 (GRCm38)	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311 (GRCm38)	C171*	probably null	Het
Micall1	C	T	15: 79,126,959 (GRCm38)	P510S		Het
Morc3	A	G	16: 93,853,087 (GRCm38)		probably null	Het
Mrpl28	G	T	17: 26,126,292 (GRCm38)	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430 (GRCm38)	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886 (GRCm38)	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334 (GRCm38)	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057 (GRCm38)		probably benign	Het
Or5p67	A	G	7: 108,322,830 (GRCm38)	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm38)		probably benign	Het
Plxna1	T	C	6: 89,341,930 (GRCm38)	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165 (GRCm38)	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069 (GRCm38)	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297 (GRCm38)	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122 (GRCm38)		probably null	Het
St14	A	G	9: 31,096,549 (GRCm38)	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972 (GRCm38)	L102*	probably null	Het
Tex15	A	G	8: 33,582,245 (GRCm38)	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475 (GRCm38)		probably benign	Het
Trip4	T	C	9: 65,852,952 (GRCm38)		probably null	Het
Ttf1	A	G	2: 29,065,697 (GRCm38)	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371 (GRCm38)	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430 (GRCm38)	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984 (GRCm38)	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724 (GRCm38)	I69V	probably benign	Het
Wdr97	T	C	15: 76,360,864 (GRCm38)	S1176P		Het
Xirp1	G	A	9: 120,018,137 (GRCm38)	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015 (GRCm38)	T266S	possibly 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
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
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'- AAGCAGGCCTCGCTTTGTAG -3'
(R):5'- CGTACATGCCTGTAAAGATCATAGGTC -3'

Sequencing Primer
(F):5'- CAGGCCTCGCTTTGTAGACATG -3'
(R):5'- CCACCTTACATTTTGAGGCAGGG -3'

Posted On

2022-06-15