Mutagenetix > Incidental Mutation

Incidental Mutation 'R4439:Acacb'

329669

Institutional Source

Beutler Lab

Gene Symbol

Acacb

Ensembl Gene

ENSMUSG00000042010

Gene Name

acetyl-Coenzyme A carboxylase beta

Synonyms

Acc2, Accb

MMRRC Submission

041704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114284748-114388822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114384557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2237 (T2237I)

Ref Sequence

ENSEMBL: ENSMUSP00000099642 (fasta)

Gene Model

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

AlphaFold

E9Q4Z2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031583
AA Change: T2237I

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: T2237I

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: T2237I

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: T2237I

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: ENSMUST00000142489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143276

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

94% (50/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,754,954 (GRCm39)	L684Q	probably damaging	Het
Cfap157	T	A	2: 32,667,877 (GRCm39)	Y488F	probably benign	Het
D630045J12Rik	A	G	6: 38,171,696 (GRCm39)	I824T	probably benign	Het
Eno2	T	C	6: 124,739,922 (GRCm39)		probably benign	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Fpgs	C	T	2: 32,577,513 (GRCm39)	C219Y	probably damaging	Het
Garem2	G	T	5: 30,318,344 (GRCm39)	V106L	possibly damaging	Het
Grk3	A	T	5: 113,094,543 (GRCm39)		probably null	Het
H3c2	A	T	13: 23,936,708 (GRCm39)		probably null	Het
Hint2	T	A	4: 43,654,919 (GRCm39)	Y70F	probably damaging	Het
Ipp	A	G	4: 116,372,274 (GRCm39)	N101S	probably benign	Het
Kcnj1	A	T	9: 32,305,414 (GRCm39)		probably benign	Het
Kcnk4	T	C	19: 6,910,129 (GRCm39)	D44G	probably benign	Het
Kif5c	T	C	2: 49,578,737 (GRCm39)	S122P	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nipbl	T	A	15: 8,368,208 (GRCm39)	K1171N	probably damaging	Het
Or4k39	T	A	2: 111,239,653 (GRCm39)		noncoding transcript	Het
Pcf11	A	C	7: 92,307,225 (GRCm39)	L981R	probably damaging	Het
Pias2	T	A	18: 77,185,399 (GRCm39)	L153H	probably damaging	Het
Pjvk	T	C	2: 76,481,750 (GRCm39)	S68P	probably damaging	Het
Pkd1	T	C	17: 24,804,666 (GRCm39)	V3130A	probably damaging	Het
Plpp4	C	A	7: 128,858,813 (GRCm39)		probably benign	Het
Plxnd1	T	A	6: 115,970,937 (GRCm39)	H277L	probably damaging	Het
Pramel26	A	T	4: 143,538,143 (GRCm39)	V276E	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Rd3l	C	A	12: 111,946,092 (GRCm39)	S63I	possibly damaging	Het
Scfd2	G	C	5: 74,558,368 (GRCm39)	A503G	possibly damaging	Het
Slco4a1	T	C	2: 180,114,455 (GRCm39)	V549A	probably benign	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tnrc6a	A	T	7: 122,751,405 (GRCm39)	K54*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpr	T	A	1: 150,279,712 (GRCm39)	D206E	probably benign	Het
Ugt2b34	A	T	5: 87,040,726 (GRCm39)	F399I	probably damaging	Het
Usp3	A	T	9: 66,425,776 (GRCm39)	D456E	probably benign	Het
Vmn1r60	T	A	7: 5,547,488 (GRCm39)	H204L	probably damaging	Het
Vmn2r97	G	T	17: 19,150,616 (GRCm39)	A488S	probably benign	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr86	T	C	5: 24,935,235 (GRCm39)	D36G	probably damaging	Het
Zc3h4	C	T	7: 16,163,036 (GRCm39)	P479S	unknown	Het
Zfhx4	A	T	3: 5,279,875 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,149 (GRCm39)	C202S	probably damaging	Het
Zfp882	T	A	8: 72,667,453 (GRCm39)	F93L	probably damaging	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
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
R9794:Acacb	UTSW	5	114,387,578 (GRCm39)	missense	probably benign	0.00
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'- ACAGGCATGTACGCAGATAC -3'
(R):5'- TCCTATGTGACCTGGGCATG -3'

Sequencing Primer
(F):5'- GGCATGTACGCAGATACACATAC -3'
(R):5'- GACTTGGGGGTGGAGCC -3'

Posted On

2015-07-21