Mutagenetix > Incidental Mutation

Incidental Mutation 'R0536:Acaca'

49464

Institutional Source

Beutler Lab

Gene Symbol

Acaca

Ensembl Gene

ENSMUSG00000020532

Gene Name

acetyl-Coenzyme A carboxylase alpha

Synonyms

Acc1, LOC327983, Acac, acetyl-CoA carboxylase, A530025K05Rik

MMRRC Submission

038728-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84020498-84292477 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 84171342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201] [ENSMUST00000183887]

AlphaFold

Q5SWU9

Predicted Effect

probably benign
Transcript: ENSMUST00000020843

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	116	236	4.7e-33	PFAM
Pfam:CPSase_L_D2	272	472	2.5e-55	PFAM
Pfam:ATP-grasp	280	443	4.3e-7	PFAM
Pfam:ATP-grasp_4	282	442	1.9e-11	PFAM
Pfam:Dala_Dala_lig_C	284	440	5.4e-7	PFAM
Biotin_carb_C	506	613	3.76e-24	SMART
low complexity region	708	725	N/A	INTRINSIC
Pfam:Biotin_lipoyl	751	817	9.8e-19	PFAM
Pfam:ACC_central	818	1568	2.1e-288	PFAM
Pfam:Carboxyl_trans	1668	2222	1.6e-185	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103201

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	116	236	6.7e-29	PFAM
Pfam:ATP-grasp_4	239	442	2e-15	PFAM
Pfam:CPSase_L_D2	272	472	3.3e-55	PFAM
Pfam:Dala_Dala_lig_C	279	440	3e-7	PFAM
Pfam:ATP-grasp	281	442	1.1e-6	PFAM
Biotin_carb_C	506	613	3.76e-24	SMART
low complexity region	708	725	N/A	INTRINSIC
Pfam:Biotin_lipoyl	751	817	3.7e-18	PFAM
Pfam:ACC_central	818	1568	3.5e-253	PFAM
Pfam:Carboxyl_trans	1668	2222	2.7e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183887

SMART Domains

Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532

Domain	Start	End	E-Value	Type
Pfam:ACC_central	1	228	8.6e-57	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (29/29)

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. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality before embryo turning with growth arrest at the egg cylinder stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,264,010 (GRCm39)	D84E	probably benign	Het
Akap11	A	G	14: 78,751,464 (GRCm39)	S308P	probably damaging	Het
Atp6v1c2	A	T	12: 17,357,509 (GRCm39)		probably null	Het
AW209491	A	G	13: 14,811,558 (GRCm39)	Y137C	probably damaging	Het
Chst9	G	A	18: 15,628,387 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,223,826 (GRCm39)	T122A	probably damaging	Het
Hoxb5	T	C	11: 96,194,854 (GRCm39)	S139P	possibly damaging	Het
Ikzf4	T	A	10: 128,477,118 (GRCm39)	E64D	probably benign	Het
Kif21a	C	A	15: 90,843,886 (GRCm39)		probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Lama3	C	T	18: 12,658,951 (GRCm39)	R2036C	probably damaging	Het
Lrba	T	A	3: 86,622,839 (GRCm39)	V311D	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mylk	T	C	16: 34,820,757 (GRCm39)	V1903A	possibly damaging	Het
Naa30	C	T	14: 49,410,534 (GRCm39)	A154V	possibly damaging	Het
Or2ag1	T	A	7: 106,313,528 (GRCm39)	Y120F	probably damaging	Het
Or52z12	T	C	7: 103,233,468 (GRCm39)	S80P	probably damaging	Het
Or8g24	G	T	9: 38,989,625 (GRCm39)	Q139K	probably benign	Het
Pgm3	C	T	9: 86,449,589 (GRCm39)	V144M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rgsl1	T	A	1: 153,701,927 (GRCm39)	S211C	probably damaging	Het
Setx	T	C	2: 29,048,260 (GRCm39)	Y1954H	possibly damaging	Het
Sorcs3	C	T	19: 48,791,137 (GRCm39)	Q1162*	probably null	Het
Sptbn2	T	A	19: 4,776,718 (GRCm39)	D255E	probably damaging	Het
Ttc39b	T	C	4: 83,145,435 (GRCm39)	E597G	probably damaging	Het
Vldlr	G	A	19: 27,217,364 (GRCm39)	A436T	probably damaging	Het
Wdr72	G	A	9: 74,064,690 (GRCm39)	G574D	probably damaging	Het
Zzz3	T	G	3: 152,154,465 (GRCm39)	I572S	probably damaging	Het

Other mutations in Acaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Acaca	APN	11	84,169,743 (GRCm39)	missense	probably damaging	1.00
IGL01134:Acaca	APN	11	84,142,105 (GRCm39)	missense	probably benign	0.22
IGL01446:Acaca	APN	11	84,151,457 (GRCm39)	missense	probably damaging	1.00
IGL01591:Acaca	APN	11	84,134,146 (GRCm39)	missense	probably damaging	1.00
IGL01663:Acaca	APN	11	84,168,628 (GRCm39)	missense	possibly damaging	0.85
IGL01767:Acaca	APN	11	84,211,368 (GRCm39)	missense	probably benign	0.01
IGL02206:Acaca	APN	11	84,151,573 (GRCm39)	nonsense	probably null
IGL02335:Acaca	APN	11	84,105,084 (GRCm39)	missense	possibly damaging	0.84
IGL02477:Acaca	APN	11	84,197,994 (GRCm39)	splice site	probably benign
IGL02515:Acaca	APN	11	84,153,229 (GRCm39)	missense	probably benign
IGL02651:Acaca	APN	11	84,136,030 (GRCm39)	splice site	probably benign
IGL02805:Acaca	APN	11	84,113,959 (GRCm39)	splice site	probably benign
IGL03328:Acaca	APN	11	84,211,355 (GRCm39)	missense	probably benign	0.00
effervescence	UTSW	11	84,153,300 (GRCm39)	missense	probably benign	0.41
fizz	UTSW	11	84,136,682 (GRCm39)	missense	probably damaging	0.98
greenhouse	UTSW	11	84,229,182 (GRCm39)	missense	probably damaging	1.00
Serene	UTSW	11	84,202,235 (GRCm39)	splice site	probably null
Tranquil	UTSW	11	84,171,287 (GRCm39)	missense	probably damaging	1.00
vitamin	UTSW	11	84,171,261 (GRCm39)	missense	possibly damaging	0.78
ANU05:Acaca	UTSW	11	84,206,678 (GRCm39)	missense	probably damaging	1.00
R0385:Acaca	UTSW	11	84,122,574 (GRCm39)	missense	probably benign	0.01
R0518:Acaca	UTSW	11	84,181,112 (GRCm39)	critical splice acceptor site	probably null
R0962:Acaca	UTSW	11	84,202,129 (GRCm39)	missense	probably damaging	1.00
R0968:Acaca	UTSW	11	84,129,859 (GRCm39)	nonsense	probably null
R1123:Acaca	UTSW	11	84,154,906 (GRCm39)	missense	probably benign	0.09
R1452:Acaca	UTSW	11	84,185,885 (GRCm39)	splice site	probably benign
R1478:Acaca	UTSW	11	84,263,453 (GRCm39)	missense	probably damaging	1.00
R1500:Acaca	UTSW	11	84,184,810 (GRCm39)	missense	probably benign	0.00
R1512:Acaca	UTSW	11	84,086,295 (GRCm39)	missense	probably benign	0.00
R1657:Acaca	UTSW	11	84,154,910 (GRCm39)	missense	probably benign	0.09
R1681:Acaca	UTSW	11	84,117,011 (GRCm39)	missense	probably damaging	1.00
R1682:Acaca	UTSW	11	84,283,043 (GRCm39)	missense	probably benign	0.23
R1688:Acaca	UTSW	11	84,129,722 (GRCm39)	missense	probably damaging	1.00
R1755:Acaca	UTSW	11	84,167,390 (GRCm39)	frame shift	probably null
R1775:Acaca	UTSW	11	84,191,248 (GRCm39)	missense	possibly damaging	0.56
R1793:Acaca	UTSW	11	84,229,219 (GRCm39)	missense	probably damaging	1.00
R1793:Acaca	UTSW	11	84,206,795 (GRCm39)	missense	probably damaging	0.98
R1855:Acaca	UTSW	11	84,262,380 (GRCm39)	missense	probably damaging	0.96
R1881:Acaca	UTSW	11	84,191,297 (GRCm39)	splice site	probably benign
R1881:Acaca	UTSW	11	84,161,213 (GRCm39)	nonsense	probably null
R1989:Acaca	UTSW	11	84,153,355 (GRCm39)	missense	probably damaging	0.98
R2147:Acaca	UTSW	11	84,167,362 (GRCm39)	missense	probably benign	0.03
R2215:Acaca	UTSW	11	84,254,619 (GRCm39)	missense	probably damaging	1.00
R2238:Acaca	UTSW	11	84,282,331 (GRCm39)	splice site	probably benign
R2252:Acaca	UTSW	11	84,262,358 (GRCm39)	missense	probably damaging	0.99
R2316:Acaca	UTSW	11	84,185,809 (GRCm39)	missense	possibly damaging	0.69
R2316:Acaca	UTSW	11	84,154,906 (GRCm39)	missense	probably benign	0.16
R2337:Acaca	UTSW	11	84,148,023 (GRCm39)	missense	possibly damaging	0.93
R2697:Acaca	UTSW	11	84,255,239 (GRCm39)	missense	probably damaging	1.00
R3551:Acaca	UTSW	11	84,152,450 (GRCm39)	missense	probably damaging	1.00
R3552:Acaca	UTSW	11	84,152,450 (GRCm39)	missense	probably damaging	1.00
R3748:Acaca	UTSW	11	84,202,235 (GRCm39)	splice site	probably null
R3844:Acaca	UTSW	11	84,255,239 (GRCm39)	missense	probably damaging	1.00
R3873:Acaca	UTSW	11	84,203,547 (GRCm39)	unclassified	probably benign
R4152:Acaca	UTSW	11	84,183,752 (GRCm39)	missense	possibly damaging	0.88
R4406:Acaca	UTSW	11	84,171,275 (GRCm39)	missense	probably benign	0.35
R4448:Acaca	UTSW	11	84,153,318 (GRCm39)	missense	probably damaging	1.00
R4642:Acaca	UTSW	11	84,171,287 (GRCm39)	missense	probably damaging	1.00
R4696:Acaca	UTSW	11	84,171,261 (GRCm39)	missense	possibly damaging	0.78
R4707:Acaca	UTSW	11	84,203,680 (GRCm39)	missense	probably damaging	0.96
R4710:Acaca	UTSW	11	84,283,163 (GRCm39)	missense	possibly damaging	0.84
R4775:Acaca	UTSW	11	84,134,165 (GRCm39)	missense	probably damaging	1.00
R4821:Acaca	UTSW	11	84,185,813 (GRCm39)	missense	possibly damaging	0.69
R4883:Acaca	UTSW	11	84,142,116 (GRCm39)	missense	probably benign	0.01
R4988:Acaca	UTSW	11	84,154,121 (GRCm39)	missense	probably damaging	1.00
R5034:Acaca	UTSW	11	84,136,090 (GRCm39)	missense	probably benign	0.00
R5255:Acaca	UTSW	11	84,202,133 (GRCm39)	missense	probably damaging	1.00
R5294:Acaca	UTSW	11	84,282,345 (GRCm39)	missense	probably benign	0.01
R5350:Acaca	UTSW	11	84,106,699 (GRCm39)	missense	probably damaging	0.99
R5437:Acaca	UTSW	11	84,237,646 (GRCm39)	splice site	probably null
R5664:Acaca	UTSW	11	84,134,210 (GRCm39)	missense	probably damaging	1.00
R5665:Acaca	UTSW	11	84,136,120 (GRCm39)	nonsense	probably null
R5959:Acaca	UTSW	11	84,106,792 (GRCm39)	missense	probably damaging	1.00
R6011:Acaca	UTSW	11	84,136,570 (GRCm39)	missense	probably benign	0.44
R6027:Acaca	UTSW	11	84,289,003 (GRCm39)	missense	probably benign
R6246:Acaca	UTSW	11	84,206,796 (GRCm39)	missense	probably benign	0.08
R6313:Acaca	UTSW	11	84,183,755 (GRCm39)	missense	probably benign	0.00
R6450:Acaca	UTSW	11	84,171,294 (GRCm39)	missense	probably damaging	0.98
R6623:Acaca	UTSW	11	84,262,325 (GRCm39)	critical splice acceptor site	probably null
R6736:Acaca	UTSW	11	84,129,664 (GRCm39)	missense	probably benign	0.05
R6752:Acaca	UTSW	11	84,086,309 (GRCm39)	missense	probably benign	0.44
R6807:Acaca	UTSW	11	84,282,356 (GRCm39)	missense	probably benign
R6826:Acaca	UTSW	11	84,086,362 (GRCm39)	missense	probably damaging	1.00
R7035:Acaca	UTSW	11	84,129,769 (GRCm39)	missense	probably damaging	1.00
R7078:Acaca	UTSW	11	84,154,138 (GRCm39)	missense	possibly damaging	0.91
R7088:Acaca	UTSW	11	84,169,783 (GRCm39)	critical splice donor site	probably null
R7201:Acaca	UTSW	11	84,153,300 (GRCm39)	missense	probably benign	0.41
R7261:Acaca	UTSW	11	84,259,526 (GRCm39)	missense	probably damaging	1.00
R7399:Acaca	UTSW	11	84,151,505 (GRCm39)	missense	possibly damaging	0.89
R7421:Acaca	UTSW	11	84,254,562 (GRCm39)	missense	possibly damaging	0.64
R7443:Acaca	UTSW	11	84,206,619 (GRCm39)	missense	probably benign	0.02
R7453:Acaca	UTSW	11	84,136,136 (GRCm39)	missense	probably benign
R7471:Acaca	UTSW	11	84,168,608 (GRCm39)	splice site	probably null
R7519:Acaca	UTSW	11	84,136,682 (GRCm39)	missense	probably damaging	0.98
R7537:Acaca	UTSW	11	84,151,460 (GRCm39)	missense	probably damaging	1.00
R7574:Acaca	UTSW	11	84,152,414 (GRCm39)	missense	probably benign
R7633:Acaca	UTSW	11	84,263,465 (GRCm39)	missense	probably benign	0.26
R7643:Acaca	UTSW	11	84,229,182 (GRCm39)	missense	probably damaging	1.00
R7664:Acaca	UTSW	11	84,136,175 (GRCm39)	missense	probably damaging	1.00
R7675:Acaca	UTSW	11	84,206,742 (GRCm39)	missense	probably benign	0.04
R7676:Acaca	UTSW	11	84,185,813 (GRCm39)	missense	possibly damaging	0.69
R7729:Acaca	UTSW	11	84,262,339 (GRCm39)	missense	probably damaging	0.98
R7867:Acaca	UTSW	11	84,140,350 (GRCm39)	missense	possibly damaging	0.88
R7898:Acaca	UTSW	11	84,255,275 (GRCm39)	critical splice donor site	probably null
R7909:Acaca	UTSW	11	84,136,061 (GRCm39)	missense	possibly damaging	0.56
R7915:Acaca	UTSW	11	84,167,414 (GRCm39)	missense	probably benign
R7956:Acaca	UTSW	11	84,211,406 (GRCm39)	missense	probably damaging	0.98
R8000:Acaca	UTSW	11	84,283,057 (GRCm39)	missense	possibly damaging	0.88
R8038:Acaca	UTSW	11	84,106,730 (GRCm39)	missense	probably damaging	1.00
R8545:Acaca	UTSW	11	84,236,794 (GRCm39)	missense	probably damaging	1.00
R8722:Acaca	UTSW	11	84,229,283 (GRCm39)	missense	possibly damaging	0.85
R9005:Acaca	UTSW	11	84,262,410 (GRCm39)	missense	probably damaging	0.99
R9130:Acaca	UTSW	11	84,202,145 (GRCm39)	missense	probably damaging	1.00
R9397:Acaca	UTSW	11	84,259,551 (GRCm39)	missense	probably damaging	1.00
R9489:Acaca	UTSW	11	84,183,842 (GRCm39)	missense	probably benign	0.01
R9540:Acaca	UTSW	11	84,134,237 (GRCm39)	missense	probably damaging	1.00
R9593:Acaca	UTSW	11	84,271,339 (GRCm39)	nonsense	probably null
R9605:Acaca	UTSW	11	84,183,842 (GRCm39)	missense	probably benign	0.01
R9634:Acaca	UTSW	11	84,184,816 (GRCm39)	missense	probably benign	0.00
R9720:Acaca	UTSW	11	84,154,183 (GRCm39)	missense	probably damaging	1.00
RF014:Acaca	UTSW	11	84,122,550 (GRCm39)	missense	probably benign	0.01
X0027:Acaca	UTSW	11	84,183,721 (GRCm39)	missense	probably benign	0.01
X0060:Acaca	UTSW	11	84,154,930 (GRCm39)	missense	probably benign
X0067:Acaca	UTSW	11	84,259,563 (GRCm39)	nonsense	probably null
Z1176:Acaca	UTSW	11	84,151,546 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGCAAACTGCCATCTCGGTAAC -3'
(R):5'- GCAGGCCAAAGCAGAACTTGTACAC -3'

Sequencing Primer
(F):5'- GCCATCTCGGTAACAGATGTG -3'
(R):5'- ggaaagaaaagagggagggag -3'

Posted On

2013-06-12