Mutagenetix > Incidental Mutation

Incidental Mutation 'R7585:Acacb'

587041

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 #

R7585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114246012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2201 (I2201V)

Ref Sequence

ENSEMBL: ENSMUSP00000031583 (fasta)

Gene Model

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

AlphaFold

E9Q4Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031583
AA Change: I2201V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: I2201V

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: I2201V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: I2201V

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,953,353	T64A	probably benign	Het
A930009A15Rik	T	A	10: 115,578,325	V52D	unknown	Het
Aco2	A	C	15: 81,872,484		probably benign	Het
Acod1	C	T	14: 103,054,741	Q234*	probably null	Het
Actr6	T	C	10: 89,725,796	S163G	probably benign	Het
Agmat	T	C	4: 141,749,745	V154A	probably benign	Het
Agrn	T	C	4: 156,170,674	N1584S	probably benign	Het
Alg6	A	T	4: 99,738,134	S60C	probably damaging	Het
Ap5s1	T	C	2: 131,212,562	F98L	probably damaging	Het
Atp6v1f	G	A	6: 29,467,928	V38I	possibly damaging	Het
B3gnt3	T	C	8: 71,693,328	T186A	probably damaging	Het
Brpf1	T	C	6: 113,315,046	V351A	possibly damaging	Het
Cacna1g	A	G	11: 94,473,542	S26P	probably benign	Het
Camta1	G	A	4: 151,144,830	S515L	probably damaging	Het
Ccdc122	C	A	14: 77,091,699	A64E	probably damaging	Het
Ccdc89	C	A	7: 90,427,302	T240K	possibly damaging	Het
Cercam	T	C	2: 29,881,731	L521P	probably damaging	Het
Cfb	T	C	17: 34,857,761	N561S	probably benign	Het
Clk3	T	C	9: 57,761,836	E159G	probably damaging	Het
Cntf	A	T	19: 12,764,223	L91*	probably null	Het
Cntn4	T	A	6: 106,489,611	I158N	probably damaging	Het
Cog5	T	A	12: 31,760,889	I194K	probably damaging	Het
Col22a1	T	A	15: 71,892,205	D66V	probably damaging	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Csmd3	T	C	15: 48,622,075	T145A	possibly damaging	Het
D130043K22Rik	A	G	13: 24,885,585	I876V	probably benign	Het
Dlec1	T	C	9: 119,142,751	S1335P	probably benign	Het
Dnah5	A	T	15: 28,401,868	T3392S	probably benign	Het
Dnal1	A	G	12: 84,124,493	K21E	probably benign	Het
Dspp	T	C	5: 104,175,525	V178A	possibly damaging	Het
Dst	A	G	1: 34,114,015	D119G	possibly damaging	Het
Dyrk4	T	A	6: 126,890,044	I342F	probably damaging	Het
Eif3b	A	G	5: 140,440,002	D649G	probably damaging	Het
Exoc7	T	C	11: 116,300,298	D259G	probably benign	Het
Fancm	T	C	12: 65,106,247	V1159A	possibly damaging	Het
Fat3	T	C	9: 15,998,262	D2148G	probably benign	Het
Fdps	C	A	3: 89,093,806	R300L	probably benign	Het
Gfm2	T	C	13: 97,179,032	L736P	probably benign	Het
Gm11397	G	T	13: 33,404,316	D295Y	probably benign	Het
Gm5538	C	A	3: 59,743,722	D88E	possibly damaging	Het
Grin2b	T	A	6: 135,779,303	T475S	probably damaging	Het
H2-M3	T	G	17: 37,270,708	L87R	probably damaging	Het
Hao1	T	A	2: 134,501,156	I272F	probably damaging	Het
Hapln2	C	T	3: 88,022,673	G299S	probably damaging	Het
Hdac3	A	T	18: 37,945,355	I154N	probably damaging	Het
Herc1	A	G	9: 66,445,547	D2105G	probably damaging	Het
Kcna2	T	C	3: 107,105,342	F413S	probably damaging	Het
Kctd13	A	G	7: 126,929,286	T78A	possibly damaging	Het
Kif20a	A	G	18: 34,625,538	D20G	probably benign	Het
Kif26b	A	T	1: 178,916,496	I1386F	probably benign	Het
Klc4	T	A	17: 46,631,884	M585L	probably benign	Het
Lrp4	A	G	2: 91,492,588	Y1139C	probably damaging	Het
Lrp5	A	T	19: 3,604,094	I1111N	possibly damaging	Het
Lrriq1	A	T	10: 103,214,946	D648E	possibly damaging	Het
Mfsd7a	T	C	5: 108,448,819	T16A	probably benign	Het
Mmp2	G	A	8: 92,836,936	G346D	probably damaging	Het
Mrgpra4	T	A	7: 47,981,629	I75L	probably benign	Het
Muc4	T	A	16: 32,765,702	V537D		Het
Myh2	T	A	11: 67,179,411		probably null	Het
Myrf	T	C	19: 10,216,727	T487A	probably damaging	Het
Nalcn	A	T	14: 123,515,638	L312H	probably damaging	Het
Nop14	G	A	5: 34,644,780	P560L	probably damaging	Het
Nufip1	C	G	14: 76,110,987	P19A	probably benign	Het
Olfr1263	A	T	2: 90,015,049	I40F	probably damaging	Het
Olfr1274-ps	T	A	2: 90,401,023	Y121N	probably damaging	Het
Olfr1415	A	G	1: 92,491,320	V145A	probably benign	Het
Olfr293	T	C	7: 86,664,672	*337Q	probably null	Het
Olfr503	C	A	7: 108,545,391	P289T	probably damaging	Het
Olfr611	C	A	7: 103,517,959	V142L	possibly damaging	Het
Olfr633	A	G	7: 103,947,400	N278S	probably benign	Het
Olfr869	T	C	9: 20,129,011			Het
Oosp3	G	T	19: 11,700,958	M99I	probably benign	Het
Panx2	A	G	15: 89,067,966	K212R	probably damaging	Het
Paxip1	A	C	5: 27,772,004	H353Q	unknown	Het
Pbx4	C	A	8: 69,832,825	D39E	probably damaging	Het
Phc2	G	A	4: 128,711,139	A223T	probably benign	Het
Plcl1	A	G	1: 55,406,449	D21G	probably benign	Het
Plec	G	A	15: 76,173,432	R4102W	probably damaging	Het
Plekhh2	A	G	17: 84,577,180	Y774C	probably benign	Het
Polr2a	A	T	11: 69,740,002	Y1197N	probably damaging	Het
Psmg4	A	T	13: 34,163,212	H46L	probably benign	Het
Ptprk	A	G	10: 28,560,088	Y815C	probably damaging	Het
Qrich2	T	C	11: 116,455,721	I1426V	probably benign	Het
Rbm43	T	C	2: 51,926,751	D68G	probably benign	Het
Rgs6	T	C	12: 83,106,870	S360P	probably damaging	Het
Rp1l1	T	G	14: 64,030,139	L1058R	probably damaging	Het
Rreb1	A	G	13: 37,893,898	S29G	probably benign	Het
Scube1	C	A	15: 83,638,787	R284L	possibly damaging	Het
Slc13a3	T	C	2: 165,430,322	Q267R	probably benign	Het
Slc5a1	A	T	5: 33,160,944	N647I	probably damaging	Het
Sphk2	A	T	7: 45,711,582	S333T	probably benign	Het
Sptan1	A	G	2: 30,000,056	D1050G	probably benign	Het
Tdo2	G	T	3: 81,962,758	A269E	probably damaging	Het
Tnc	A	T	4: 64,020,411	C64S	probably damaging	Het
Trim47	T	A	11: 116,107,557	E360D	probably damaging	Het
Trp53i13	T	A	11: 77,508,303	T374S	possibly damaging	Het
Try5	A	G	6: 41,311,814	L157P	probably benign	Het
Ttn	A	T	2: 76,747,832	V24239D	probably damaging	Het
Ttn	T	C	2: 76,943,323	Y2318C	unknown	Het
Txn1	T	C	4: 57,945,199	D68G	possibly damaging	Het
Upf3a	A	G	8: 13,787,418	D121G	probably damaging	Het
Vmn2r114	T	C	17: 23,291,265	Y747C	probably damaging	Het
Vmn2r68	A	G	7: 85,232,379	W498R	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Zp2	A	T	7: 120,133,944	F591L	probably damaging	Het

Other mutations in Acacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Acacb	APN	5	114200289	missense	probably damaging	1.00
IGL01291:Acacb	APN	5	114225870	missense	probably benign	0.03
IGL01301:Acacb	APN	5	114246498	missense	probably benign
IGL01633:Acacb	APN	5	114218858	splice site	probably benign
IGL01736:Acacb	APN	5	114188442	missense	possibly damaging	0.96
IGL01782:Acacb	APN	5	114200520	missense	probably damaging	1.00
IGL01924:Acacb	APN	5	114223986	splice site	probably benign
IGL01933:Acacb	APN	5	114184190	splice site	probably benign
IGL02028:Acacb	APN	5	114166015	missense	probably damaging	1.00
IGL02045:Acacb	APN	5	114240660	missense	possibly damaging	0.95
IGL02346:Acacb	APN	5	114238699	missense	probably damaging	1.00
IGL02421:Acacb	APN	5	114223878	missense	probably benign	0.00
IGL02445:Acacb	APN	5	114245137	missense	probably damaging	1.00
IGL02491:Acacb	APN	5	114192105	missense	probably damaging	1.00
IGL02598:Acacb	APN	5	114246037	missense	probably damaging	1.00
IGL02700:Acacb	APN	5	114218881	missense	probably damaging	1.00
IGL02730:Acacb	APN	5	114166149	splice site	probably benign
IGL03110:Acacb	APN	5	114195234	missense	probably damaging	0.96
IGL03125:Acacb	APN	5	114204805	missense	possibly damaging	0.49
IGL03263:Acacb	APN	5	114213693	missense	probably damaging	1.00
IGL03324:Acacb	APN	5	114225854	nonsense	probably null
acetone	UTSW	5	114226857	nonsense	probably null
anabolism	UTSW	5	114245220	missense	possibly damaging	0.63
ANU05:Acacb	UTSW	5	114225870	missense	probably benign	0.03
ANU18:Acacb	UTSW	5	114246498	missense	probably benign
BB001:Acacb	UTSW	5	114245220	missense	possibly damaging	0.63
BB011:Acacb	UTSW	5	114245220	missense	possibly damaging	0.63
I0000:Acacb	UTSW	5	114238655	missense	probably damaging	0.99
R0001:Acacb	UTSW	5	114204833	splice site	probably benign
R0219:Acacb	UTSW	5	114232944	missense	possibly damaging	0.79
R0234:Acacb	UTSW	5	114209817	missense	probably damaging	0.99
R0234:Acacb	UTSW	5	114209817	missense	probably damaging	0.99
R0278:Acacb	UTSW	5	114233259	nonsense	probably null
R0607:Acacb	UTSW	5	114200301	missense	probably damaging	1.00
R0964:Acacb	UTSW	5	114229752	missense	possibly damaging	0.64
R1116:Acacb	UTSW	5	114210956	missense	probably damaging	1.00
R1196:Acacb	UTSW	5	114245092	missense	probably benign	0.00
R1204:Acacb	UTSW	5	114190153	missense	probably damaging	1.00
R1387:Acacb	UTSW	5	114200512	missense	probably benign
R1415:Acacb	UTSW	5	114165921	missense	probably benign
R1475:Acacb	UTSW	5	114195252	missense	possibly damaging	0.87
R1497:Acacb	UTSW	5	114196807	missense	probably damaging	1.00
R1520:Acacb	UTSW	5	114201940	missense	possibly damaging	0.67
R1591:Acacb	UTSW	5	114203423	missense	possibly damaging	0.87
R1644:Acacb	UTSW	5	114195285	missense	probably damaging	1.00
R1732:Acacb	UTSW	5	114190087	missense	possibly damaging	0.63
R1783:Acacb	UTSW	5	114209767	frame shift	probably null
R1784:Acacb	UTSW	5	114209767	frame shift	probably null
R1834:Acacb	UTSW	5	114235475	missense	probably damaging	1.00
R1858:Acacb	UTSW	5	114196709	missense	probably benign	0.13
R1886:Acacb	UTSW	5	114218959	missense	probably damaging	1.00
R1901:Acacb	UTSW	5	114165734	nonsense	probably null
R1902:Acacb	UTSW	5	114165734	nonsense	probably null
R1903:Acacb	UTSW	5	114165734	nonsense	probably null
R1924:Acacb	UTSW	5	114230720	missense	possibly damaging	0.67
R1934:Acacb	UTSW	5	114198282	missense	probably benign	0.27
R2051:Acacb	UTSW	5	114245890	missense	probably damaging	1.00
R2132:Acacb	UTSW	5	114209767	frame shift	probably null
R2133:Acacb	UTSW	5	114209767	frame shift	probably null
R2260:Acacb	UTSW	5	114216917	missense	probably damaging	0.99
R2967:Acacb	UTSW	5	114166070	missense	possibly damaging	0.81
R3421:Acacb	UTSW	5	114212636	splice site	probably null
R3729:Acacb	UTSW	5	114207348	missense	probably damaging	0.99
R4206:Acacb	UTSW	5	114213651	missense	probably benign
R4245:Acacb	UTSW	5	114230784	missense	probably damaging	0.97
R4386:Acacb	UTSW	5	114241921	critical splice acceptor site	probably null
R4439:Acacb	UTSW	5	114246496	missense	possibly damaging	0.50
R4577:Acacb	UTSW	5	114226831	missense	probably damaging	1.00
R4658:Acacb	UTSW	5	114200564	missense	probably damaging	0.96
R4688:Acacb	UTSW	5	114204763	missense	probably benign	0.01
R4720:Acacb	UTSW	5	114229914	missense	possibly damaging	0.73
R4898:Acacb	UTSW	5	114232938	missense	probably benign	0.04
R5044:Acacb	UTSW	5	114166027	missense	probably benign	0.03
R5070:Acacb	UTSW	5	114246028	missense	possibly damaging	0.46
R5294:Acacb	UTSW	5	114241952	missense	probably damaging	1.00
R5350:Acacb	UTSW	5	114244551	missense	probably damaging	1.00
R5401:Acacb	UTSW	5	114209853	missense	possibly damaging	0.80
R5531:Acacb	UTSW	5	114204706	missense	possibly damaging	0.92
R5542:Acacb	UTSW	5	114195737	missense	probably damaging	1.00
R5751:Acacb	UTSW	5	114230832	missense	possibly damaging	0.79
R5821:Acacb	UTSW	5	114184106	missense	possibly damaging	0.69
R5893:Acacb	UTSW	5	114229851	missense	probably benign	0.01
R5911:Acacb	UTSW	5	114232890	missense	probably damaging	0.97
R5944:Acacb	UTSW	5	114245980	missense	probably damaging	1.00
R5973:Acacb	UTSW	5	114226867	missense	probably damaging	1.00
R6027:Acacb	UTSW	5	114165600	missense	probably benign	0.43
R6103:Acacb	UTSW	5	114245881	missense	probably damaging	1.00
R6139:Acacb	UTSW	5	114212652	missense	probably damaging	1.00
R6292:Acacb	UTSW	5	114200251	missense	probably damaging	1.00
R6368:Acacb	UTSW	5	114216823	missense	probably damaging	0.98
R6429:Acacb	UTSW	5	114228591	missense	probably damaging	1.00
R6942:Acacb	UTSW	5	114191963	critical splice donor site	probably null
R7138:Acacb	UTSW	5	114207326	missense	probably benign	0.12
R7241:Acacb	UTSW	5	114245100	missense	possibly damaging	0.94
R7254:Acacb	UTSW	5	114209751	critical splice acceptor site	probably null
R7396:Acacb	UTSW	5	114213661	missense	possibly damaging	0.87
R7439:Acacb	UTSW	5	114195642	missense	possibly damaging	0.84
R7484:Acacb	UTSW	5	114218862	missense	probably damaging	1.00
R7712:Acacb	UTSW	5	114165738	missense	probably benign	0.13
R7868:Acacb	UTSW	5	114248227	missense	probably benign	0.22
R7873:Acacb	UTSW	5	114223278	missense	possibly damaging	0.88
R7924:Acacb	UTSW	5	114245220	missense	possibly damaging	0.63
R7940:Acacb	UTSW	5	114166047	missense	possibly damaging	0.77
R7951:Acacb	UTSW	5	114188340	missense	probably damaging	1.00
R7960:Acacb	UTSW	5	114230861	missense	probably benign	0.00
R7972:Acacb	UTSW	5	114226857	nonsense	probably null
R8007:Acacb	UTSW	5	114218874	missense	probably damaging	0.97
R8022:Acacb	UTSW	5	114223854	missense	probably benign
R8030:Acacb	UTSW	5	114233167	missense	probably damaging	1.00
R8241:Acacb	UTSW	5	114195236	missense	possibly damaging	0.49
R8264:Acacb	UTSW	5	114207366	missense	probably benign	0.00
R8292:Acacb	UTSW	5	114200494	critical splice acceptor site	probably null
R8678:Acacb	UTSW	5	114201971	nonsense	probably null
R8693:Acacb	UTSW	5	114226783	missense	probably damaging	0.99
R8697:Acacb	UTSW	5	114213380	missense	probably damaging	0.96
R8772:Acacb	UTSW	5	114184118	missense	possibly damaging	0.73
R8918:Acacb	UTSW	5	114195254	missense	probably damaging	1.00
R9008:Acacb	UTSW	5	114248754	splice site	silent
R9044:Acacb	UTSW	5	114235517	missense	probably benign	0.00
R9165:Acacb	UTSW	5	114216683	missense	probably benign	0.01
R9231:Acacb	UTSW	5	114211092	missense	probably benign	0.01
R9440:Acacb	UTSW	5	114246024	missense	possibly damaging	0.56
R9444:Acacb	UTSW	5	114245959	missense	probably damaging	0.99
R9562:Acacb	UTSW	5	114233336	missense	probably damaging	0.99
R9794:Acacb	UTSW	5	114249517	missense	probably benign	0.00
V1662:Acacb	UTSW	5	114238708	missense	probably damaging	1.00
Z1176:Acacb	UTSW	5	114248948	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGGAGAATAGCCTGCCCAAG -3'
(R):5'- CGTACATGCCTGTAAAGATCATAGG -3'

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

Posted On

2019-10-24