Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Acacb'

734803

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 #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114284748-114388822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114387578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2415 (V2415A)

Ref Sequence

ENSEMBL: ENSMUSP00000031583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031583] [ENSMUST00000044790] [ENSMUST00000102582]

AlphaFold

E9Q4Z2

Predicted Effect

probably benign
Transcript: ENSMUST00000031583
AA Change: V2415A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: V2415A

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 benign
Transcript: ENSMUST00000044790

SMART Domains

Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
FH	195	287	2.15e-46	SMART
low complexity region	386	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102582
AA Change: V2415A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: V2415A

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Galnt6	C	A	15: 100,595,859 (GRCm39)	V390L	probably damaging	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mideas	T	A	12: 84,220,576 (GRCm39)	Q126L	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Myzap	A	T	9: 71,487,082 (GRCm39)	M15K	probably benign	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Prkch	T	A	12: 73,744,744 (GRCm39)	N252K	possibly damaging	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Rnf32	T	C	5: 29,429,125 (GRCm39)	I234T	probably damaging	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,977,252 (GRCm39)	N417S	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	probably benign	Het

Other mutations in Acacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Acacb	APN	5	114,338,350 (GRCm39)	missense	probably damaging	1.00
IGL01291:Acacb	APN	5	114,363,931 (GRCm39)	missense	probably benign	0.03
IGL01301:Acacb	APN	5	114,384,559 (GRCm39)	missense	probably benign
IGL01633:Acacb	APN	5	114,356,919 (GRCm39)	splice site	probably benign
IGL01736:Acacb	APN	5	114,326,503 (GRCm39)	missense	possibly damaging	0.96
IGL01782:Acacb	APN	5	114,338,581 (GRCm39)	missense	probably damaging	1.00
IGL01924:Acacb	APN	5	114,362,047 (GRCm39)	splice site	probably benign
IGL01933:Acacb	APN	5	114,322,251 (GRCm39)	splice site	probably benign
IGL02028:Acacb	APN	5	114,304,076 (GRCm39)	missense	probably damaging	1.00
IGL02045:Acacb	APN	5	114,378,721 (GRCm39)	missense	possibly damaging	0.95
IGL02346:Acacb	APN	5	114,376,760 (GRCm39)	missense	probably damaging	1.00
IGL02421:Acacb	APN	5	114,361,939 (GRCm39)	missense	probably benign	0.00
IGL02445:Acacb	APN	5	114,383,198 (GRCm39)	missense	probably damaging	1.00
IGL02491:Acacb	APN	5	114,330,166 (GRCm39)	missense	probably damaging	1.00
IGL02598:Acacb	APN	5	114,384,098 (GRCm39)	missense	probably damaging	1.00
IGL02700:Acacb	APN	5	114,356,942 (GRCm39)	missense	probably damaging	1.00
IGL02730:Acacb	APN	5	114,304,210 (GRCm39)	splice site	probably benign
IGL03110:Acacb	APN	5	114,333,295 (GRCm39)	missense	probably damaging	0.96
IGL03125:Acacb	APN	5	114,342,866 (GRCm39)	missense	possibly damaging	0.49
IGL03263:Acacb	APN	5	114,351,754 (GRCm39)	missense	probably damaging	1.00
IGL03324:Acacb	APN	5	114,363,915 (GRCm39)	nonsense	probably null
acetone	UTSW	5	114,364,918 (GRCm39)	nonsense	probably null
anabolism	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
ANU05:Acacb	UTSW	5	114,363,931 (GRCm39)	missense	probably benign	0.03
ANU18:Acacb	UTSW	5	114,384,559 (GRCm39)	missense	probably benign
BB001:Acacb	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
BB011:Acacb	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
I0000:Acacb	UTSW	5	114,376,716 (GRCm39)	missense	probably damaging	0.99
R0001:Acacb	UTSW	5	114,342,894 (GRCm39)	splice site	probably benign
R0219:Acacb	UTSW	5	114,371,005 (GRCm39)	missense	possibly damaging	0.79
R0234:Acacb	UTSW	5	114,347,878 (GRCm39)	missense	probably damaging	0.99
R0234:Acacb	UTSW	5	114,347,878 (GRCm39)	missense	probably damaging	0.99
R0278:Acacb	UTSW	5	114,371,320 (GRCm39)	nonsense	probably null
R0607:Acacb	UTSW	5	114,338,362 (GRCm39)	missense	probably damaging	1.00
R0964:Acacb	UTSW	5	114,367,813 (GRCm39)	missense	possibly damaging	0.64
R1116:Acacb	UTSW	5	114,349,017 (GRCm39)	missense	probably damaging	1.00
R1196:Acacb	UTSW	5	114,383,153 (GRCm39)	missense	probably benign	0.00
R1204:Acacb	UTSW	5	114,328,214 (GRCm39)	missense	probably damaging	1.00
R1387:Acacb	UTSW	5	114,338,573 (GRCm39)	missense	probably benign
R1415:Acacb	UTSW	5	114,303,982 (GRCm39)	missense	probably benign
R1475:Acacb	UTSW	5	114,333,313 (GRCm39)	missense	possibly damaging	0.87
R1497:Acacb	UTSW	5	114,334,868 (GRCm39)	missense	probably damaging	1.00
R1520:Acacb	UTSW	5	114,340,001 (GRCm39)	missense	possibly damaging	0.67
R1591:Acacb	UTSW	5	114,341,484 (GRCm39)	missense	possibly damaging	0.87
R1644:Acacb	UTSW	5	114,333,346 (GRCm39)	missense	probably damaging	1.00
R1732:Acacb	UTSW	5	114,328,148 (GRCm39)	missense	possibly damaging	0.63
R1783:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R1784:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R1834:Acacb	UTSW	5	114,373,536 (GRCm39)	missense	probably damaging	1.00
R1858:Acacb	UTSW	5	114,334,770 (GRCm39)	missense	probably benign	0.13
R1886:Acacb	UTSW	5	114,357,020 (GRCm39)	missense	probably damaging	1.00
R1901:Acacb	UTSW	5	114,303,795 (GRCm39)	nonsense	probably null
R1902:Acacb	UTSW	5	114,303,795 (GRCm39)	nonsense	probably null
R1903:Acacb	UTSW	5	114,303,795 (GRCm39)	nonsense	probably null
R1924:Acacb	UTSW	5	114,368,781 (GRCm39)	missense	possibly damaging	0.67
R1934:Acacb	UTSW	5	114,336,343 (GRCm39)	missense	probably benign	0.27
R2051:Acacb	UTSW	5	114,383,951 (GRCm39)	missense	probably damaging	1.00
R2132:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R2133:Acacb	UTSW	5	114,347,828 (GRCm39)	frame shift	probably null
R2260:Acacb	UTSW	5	114,354,978 (GRCm39)	missense	probably damaging	0.99
R2967:Acacb	UTSW	5	114,304,131 (GRCm39)	missense	possibly damaging	0.81
R3421:Acacb	UTSW	5	114,350,697 (GRCm39)	splice site	probably null
R3729:Acacb	UTSW	5	114,345,409 (GRCm39)	missense	probably damaging	0.99
R4206:Acacb	UTSW	5	114,351,712 (GRCm39)	missense	probably benign
R4245:Acacb	UTSW	5	114,368,845 (GRCm39)	missense	probably damaging	0.97
R4386:Acacb	UTSW	5	114,379,982 (GRCm39)	critical splice acceptor site	probably null
R4439:Acacb	UTSW	5	114,384,557 (GRCm39)	missense	possibly damaging	0.50
R4577:Acacb	UTSW	5	114,364,892 (GRCm39)	missense	probably damaging	1.00
R4658:Acacb	UTSW	5	114,338,625 (GRCm39)	missense	probably damaging	0.96
R4688:Acacb	UTSW	5	114,342,824 (GRCm39)	missense	probably benign	0.01
R4720:Acacb	UTSW	5	114,367,975 (GRCm39)	missense	possibly damaging	0.73
R4898:Acacb	UTSW	5	114,370,999 (GRCm39)	missense	probably benign	0.04
R5044:Acacb	UTSW	5	114,304,088 (GRCm39)	missense	probably benign	0.03
R5070:Acacb	UTSW	5	114,384,089 (GRCm39)	missense	possibly damaging	0.46
R5294:Acacb	UTSW	5	114,380,013 (GRCm39)	missense	probably damaging	1.00
R5350:Acacb	UTSW	5	114,382,612 (GRCm39)	missense	probably damaging	1.00
R5401:Acacb	UTSW	5	114,347,914 (GRCm39)	missense	possibly damaging	0.80
R5531:Acacb	UTSW	5	114,342,767 (GRCm39)	missense	possibly damaging	0.92
R5542:Acacb	UTSW	5	114,333,798 (GRCm39)	missense	probably damaging	1.00
R5751:Acacb	UTSW	5	114,368,893 (GRCm39)	missense	possibly damaging	0.79
R5821:Acacb	UTSW	5	114,322,167 (GRCm39)	missense	possibly damaging	0.69
R5893:Acacb	UTSW	5	114,367,912 (GRCm39)	missense	probably benign	0.01
R5911:Acacb	UTSW	5	114,370,951 (GRCm39)	missense	probably damaging	0.97
R5944:Acacb	UTSW	5	114,384,041 (GRCm39)	missense	probably damaging	1.00
R5973:Acacb	UTSW	5	114,364,928 (GRCm39)	missense	probably damaging	1.00
R6027:Acacb	UTSW	5	114,303,661 (GRCm39)	missense	probably benign	0.43
R6103:Acacb	UTSW	5	114,383,942 (GRCm39)	missense	probably damaging	1.00
R6139:Acacb	UTSW	5	114,350,713 (GRCm39)	missense	probably damaging	1.00
R6292:Acacb	UTSW	5	114,338,312 (GRCm39)	missense	probably damaging	1.00
R6368:Acacb	UTSW	5	114,354,884 (GRCm39)	missense	probably damaging	0.98
R6429:Acacb	UTSW	5	114,366,652 (GRCm39)	missense	probably damaging	1.00
R6942:Acacb	UTSW	5	114,330,024 (GRCm39)	critical splice donor site	probably null
R7138:Acacb	UTSW	5	114,345,387 (GRCm39)	missense	probably benign	0.12
R7241:Acacb	UTSW	5	114,383,161 (GRCm39)	missense	possibly damaging	0.94
R7254:Acacb	UTSW	5	114,347,812 (GRCm39)	critical splice acceptor site	probably null
R7396:Acacb	UTSW	5	114,351,722 (GRCm39)	missense	possibly damaging	0.87
R7439:Acacb	UTSW	5	114,333,703 (GRCm39)	missense	possibly damaging	0.84
R7484:Acacb	UTSW	5	114,356,923 (GRCm39)	missense	probably damaging	1.00
R7585:Acacb	UTSW	5	114,384,073 (GRCm39)	missense	probably damaging	0.99
R7712:Acacb	UTSW	5	114,303,799 (GRCm39)	missense	probably benign	0.13
R7868:Acacb	UTSW	5	114,386,288 (GRCm39)	missense	probably benign	0.22
R7873:Acacb	UTSW	5	114,361,339 (GRCm39)	missense	possibly damaging	0.88
R7924:Acacb	UTSW	5	114,383,281 (GRCm39)	missense	possibly damaging	0.63
R7940:Acacb	UTSW	5	114,304,108 (GRCm39)	missense	possibly damaging	0.77
R7951:Acacb	UTSW	5	114,326,401 (GRCm39)	missense	probably damaging	1.00
R7960:Acacb	UTSW	5	114,368,922 (GRCm39)	missense	probably benign	0.00
R7972:Acacb	UTSW	5	114,364,918 (GRCm39)	nonsense	probably null
R8007:Acacb	UTSW	5	114,356,935 (GRCm39)	missense	probably damaging	0.97
R8022:Acacb	UTSW	5	114,361,915 (GRCm39)	missense	probably benign
R8030:Acacb	UTSW	5	114,371,228 (GRCm39)	missense	probably damaging	1.00
R8241:Acacb	UTSW	5	114,333,297 (GRCm39)	missense	possibly damaging	0.49
R8264:Acacb	UTSW	5	114,345,427 (GRCm39)	missense	probably benign	0.00
R8292:Acacb	UTSW	5	114,338,555 (GRCm39)	critical splice acceptor site	probably null
R8678:Acacb	UTSW	5	114,340,032 (GRCm39)	nonsense	probably null
R8693:Acacb	UTSW	5	114,364,844 (GRCm39)	missense	probably damaging	0.99
R8697:Acacb	UTSW	5	114,351,441 (GRCm39)	missense	probably damaging	0.96
R8772:Acacb	UTSW	5	114,322,179 (GRCm39)	missense	possibly damaging	0.73
R8918:Acacb	UTSW	5	114,333,315 (GRCm39)	missense	probably damaging	1.00
R9008:Acacb	UTSW	5	114,386,815 (GRCm39)	splice site	silent
R9044:Acacb	UTSW	5	114,373,578 (GRCm39)	missense	probably benign	0.00
R9165:Acacb	UTSW	5	114,354,744 (GRCm39)	missense	probably benign	0.01
R9231:Acacb	UTSW	5	114,349,153 (GRCm39)	missense	probably benign	0.01
R9440:Acacb	UTSW	5	114,384,085 (GRCm39)	missense	possibly damaging	0.56
R9444:Acacb	UTSW	5	114,384,020 (GRCm39)	missense	probably damaging	0.99
R9562:Acacb	UTSW	5	114,371,397 (GRCm39)	missense	probably damaging	0.99
V1662:Acacb	UTSW	5	114,376,769 (GRCm39)	missense	probably damaging	1.00
Z1176:Acacb	UTSW	5	114,387,009 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCCGTGTAGGATTGTCTGTC -3'
(R):5'- AAAATAAGCCCGTGTCCCTCG -3'

Sequencing Primer
(F):5'- GTGTAGGATTGTCTGTCCCCTC -3'
(R):5'- TGTCCCTCGAAGGCCTG -3'

Posted On

2022-11-14