Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02206:Acaca'

284489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acaca

Ensembl Gene

ENSMUSG00000020532

Gene Name

acetyl-Coenzyme A carboxylase alpha

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02206

Quality Score

Status

Chromosome

Chromosomal Location

84020498-84292477 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 84151573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 824 (K824*)

Ref Sequence

ENSEMBL: ENSMUSP00000099490 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

probably null
Transcript: ENSMUST00000020843
AA Change: K824*

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: K824*

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 null
Transcript: ENSMUST00000103201
AA Change: K824*

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: K824*

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

Coding Region Coverage

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. 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,908,106 (GRCm39)	D96G	probably damaging	Het
Acvr2b	C	T	9: 119,257,064 (GRCm39)	Q98*	probably null	Het
Aldh8a1	T	C	10: 21,271,474 (GRCm39)	V400A	probably benign	Het
Aox1	C	A	1: 58,104,499 (GRCm39)	H559N	probably benign	Het
Arhgef18	T	A	8: 3,495,034 (GRCm39)	I431N	probably benign	Het
Atad5	A	G	11: 79,985,009 (GRCm39)	D32G	probably damaging	Het
Cgas	T	C	9: 78,350,362 (GRCm39)		probably null	Het
Cmtm8	T	C	9: 114,672,967 (GRCm39)	H10R	probably benign	Het
Cnn1	T	G	9: 22,015,674 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Defb23	C	A	2: 152,306,455 (GRCm39)	E20*	probably null	Het
Dennd2a	A	T	6: 39,500,383 (GRCm39)	S61T	probably damaging	Het
Fam13a	A	T	6: 58,964,204 (GRCm39)	I76K	probably benign	Het
Fgd5	A	G	6: 91,964,239 (GRCm39)		probably benign	Het
Flt4	A	T	11: 49,521,217 (GRCm39)	R409W	probably damaging	Het
Gramd1b	T	C	9: 40,211,328 (GRCm39)	T652A	probably benign	Het
Grik1	C	T	16: 87,732,808 (GRCm39)	G703D	probably damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Itpr1	A	G	6: 108,526,781 (GRCm39)	N2743S	probably damaging	Het
Klc1	A	G	12: 111,744,550 (GRCm39)		probably benign	Het
Ndufa9	G	A	6: 126,821,366 (GRCm39)	R75*	probably null	Het
Neurl4	A	G	11: 69,801,166 (GRCm39)	N1181S	probably damaging	Het
Or5an9	T	C	19: 12,187,824 (GRCm39)	I298T	probably damaging	Het
Phf1	A	G	17: 27,155,843 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,376,245 (GRCm39)	I969T	probably benign	Het
Pprc1	G	A	19: 46,060,190 (GRCm39)	R1538Q	probably damaging	Het
Rasd1	C	T	11: 59,854,778 (GRCm39)	G234D	possibly damaging	Het
Rnf152	T	C	1: 105,212,549 (GRCm39)	T3A	probably benign	Het
Rrh	C	T	3: 129,605,346 (GRCm39)	V115I	probably benign	Het
Rundc3a	G	T	11: 102,290,460 (GRCm39)	E217*	probably null	Het
Sae1	A	T	7: 16,064,581 (GRCm39)	V306E	possibly damaging	Het
Serpinb7	T	C	1: 107,363,102 (GRCm39)	S89P	possibly damaging	Het
Serpinb9h	A	G	13: 33,588,182 (GRCm39)	T256A	probably damaging	Het
Sgo2b	T	A	8: 64,394,118 (GRCm39)	T74S	possibly damaging	Het
Slc5a7	T	C	17: 54,604,022 (GRCm39)	D48G	probably damaging	Het
Stn1	T	C	19: 47,504,612 (GRCm39)	M177V	possibly damaging	Het
Tgm1	T	C	14: 55,942,392 (GRCm39)	E653G	possibly damaging	Het
Thsd4	T	C	9: 60,301,398 (GRCm39)	K299R	probably benign	Het
Ttc22	A	G	4: 106,493,186 (GRCm39)	T278A	probably damaging	Het
Ubl4b	G	T	3: 107,462,141 (GRCm39)	Q40K	possibly damaging	Het
Zfp677	A	G	17: 21,613,499 (GRCm39)	D31G	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
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
R0536:Acaca	UTSW	11	84,171,342 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16