Mutagenetix > Incidental Mutations

Incidental Mutation 'R0219:Acacb'

33719

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

038468-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114146535-114250761 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114232944 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1749 (M1749K)

Ref Sequence

ENSEMBL: ENSMUSP00000099642 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031583
AA Change: M1749K

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: M1749K

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: M1749K

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: M1749K

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

0.2122

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,886,150		probably benign	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,811,040		probably benign	Het
Ankle2	C	T	5: 110,251,645	R624*	probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Brca2	A	G	5: 150,523,175		probably benign	Het
Ccdc116	T	A	16: 17,141,612	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,696,441		probably benign	Het
Ccdc80	A	G	16: 45,096,483	K534R	probably damaging	Het
Ccna1	T	C	3: 55,050,927	I112V	probably benign	Het
Cdhr1	A	C	14: 37,079,601	L795R	possibly damaging	Het
Cilp	C	A	9: 65,269,590	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,813,669		probably benign	Het
Ddx59	C	A	1: 136,432,309		probably benign	Het
Dgkd	T	C	1: 87,938,274		probably benign	Het
Dicer1	A	G	12: 104,692,125		probably null	Het
Dst	T	G	1: 34,303,478	S5030A	probably damaging	Het
Dysf	G	A	6: 84,129,461		probably benign	Het
Farp1	C	A	14: 121,243,600	P471Q	possibly damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,231,226	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,806,322	V21A	probably benign	Het
Gm9912	T	C	3: 149,185,495	I1V	unknown	Het
Guf1	G	A	5: 69,559,586	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,826,669	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,339,163		probably benign	Het
Iglon5	A	T	7: 43,476,837	V214E	probably damaging	Het
Isx	C	A	8: 74,889,961		probably null	Het
Kank4	T	C	4: 98,778,465	N582D	probably benign	Het
Kcp	T	A	6: 29,495,785	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,373,620	C825R	probably damaging	Het
Krt25	G	A	11: 99,318,059	T315M	probably benign	Het
Lrp5	A	T	19: 3,597,349	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,656,731	D921G	probably damaging	Het
Mrgprx1	C	A	7: 48,021,546	W151L	probably damaging	Het
Mylk3	T	A	8: 85,355,244	D375V	probably damaging	Het
Nav3	C	T	10: 109,866,930		probably null	Het
Ncan	A	G	8: 70,115,334	S43P	probably benign	Het
Necab3	G	T	2: 154,546,093	Q292K	probably benign	Het
Nptx2	T	C	5: 144,548,140	S148P	probably damaging	Het
Olfr414	G	A	1: 174,430,466	V13I	probably benign	Het
Olfr520	A	T	7: 99,735,928	I262L	probably benign	Het
Pde6a	A	G	18: 61,285,935	E794G	possibly damaging	Het
Pus7	T	C	5: 23,775,966	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,654,588		probably benign	Het
Rptor	A	T	11: 119,821,777		probably benign	Het
Sart1	C	A	19: 5,388,396	A78S	probably benign	Het
Shkbp1	T	C	7: 27,352,061	E191G	probably benign	Het
Slc6a18	A	T	13: 73,674,632		probably null	Het
Stxbp5	T	C	10: 9,770,528	T147A	probably benign	Het
Sv2b	A	G	7: 75,157,267		probably null	Het
Syne2	A	T	12: 76,042,004	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,636,839	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,656,457	V814A	probably damaging	Het
Togaram2	T	C	17: 71,714,230		probably benign	Het
Tpr	T	C	1: 150,443,258		probably null	Het
Ttn	T	C	2: 76,900,228		probably benign	Het
Ubr4	T	A	4: 139,430,257	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,764,675	E1987G	probably damaging	Het
Utrn	T	C	10: 12,684,451	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,386,098	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,504,313	V278A	probably damaging	Het
Vps13d	C	T	4: 145,105,909	S2809N	probably benign	Het
Zfp212	G	A	6: 47,926,685	R68H	probably damaging	Het
Zfp442	A	T	2: 150,411,240	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,612,083	S185G	probably damaging	Het
Zfp738	A	G	13: 67,683,389		probably benign	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
ANU05:Acacb	UTSW	5	114225870	missense	probably benign	0.03
ANU18:Acacb	UTSW	5	114246498	missense	probably benign
I0000:Acacb	UTSW	5	114238655	missense	probably damaging	0.99
R0001:Acacb	UTSW	5	114204833	splice site	probably benign
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
R7585:Acacb	UTSW	5	114246012	missense	probably damaging	0.99
R7712:Acacb	UTSW	5	114165738	missense	probably benign	0.13
V1662:Acacb	UTSW	5	114238708	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGATTGAAGACCTGGCACTCTGAC -3'
(R):5'- CCCTATGCCGAAAGAGCCGATTTG -3'

Sequencing Primer
(F):5'- CATGTCACCTCCAACCAGGAAG -3'
(R):5'- GTCCCGGCCTTCTGGATAC -3'

Posted On

2013-05-09