Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Acaca'

289698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acaca

Ensembl Gene

ENSMUSG00000020532

Gene Name

acetyl-Coenzyme A carboxylase alpha

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84214258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 147 (T147A)

Ref Sequence

ENSEMBL: ENSMUSP00000116174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201] [ENSMUST00000130012] [ENSMUST00000133811] [ENSMUST00000136463] [ENSMUST00000137500]

AlphaFold

Q5SWU9

Predicted Effect

probably benign
Transcript: ENSMUST00000020843
AA Change: T109A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: T109A

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
AA Change: T109A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: T109A

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: ENSMUST00000130012
AA Change: T109A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117972
Gene: ENSMUSG00000020532
AA Change: T109A

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	116	202	3.3e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133811
AA Change: T147A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116174
Gene: ENSMUSG00000020532
AA Change: T147A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PDB:2YL2\|B	115	157	2e-21	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000136463

Predicted Effect

probably benign
Transcript: ENSMUST00000137500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183548

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	T	9: 99,620,213 (GRCm38)	T142I	probably benign	Het
Aadacl2fm2	G	A	3: 59,743,605 (GRCm38)	M49I	probably benign	Het
Agbl3	A	G	6: 34,799,750 (GRCm38)	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638 (GRCm38)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929 (GRCm38)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134 (GRCm38)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847 (GRCm38)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm38)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769 (GRCm38)		probably benign	Het
Col6a6	C	T	9: 105,784,101 (GRCm38)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077 (GRCm38)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845 (GRCm38)	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834 (GRCm38)		probably null	Het
Dctn2	T	C	10: 127,275,821 (GRCm38)		probably benign	Het
Dnm1l	A	G	16: 16,342,740 (GRCm38)		probably benign	Het
Dpp4	T	C	2: 62,334,644 (GRCm38)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309 (GRCm38)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390 (GRCm38)	W181*	probably null	Het
G2e3	T	A	12: 51,369,158 (GRCm38)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595 (GRCm38)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763 (GRCm38)	I572M	probably benign	Het
Gpatch2l	T	A	12: 86,256,937 (GRCm38)		probably benign	Het
Kcnq4	A	G	4: 120,715,854 (GRCm38)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216 (GRCm38)	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081 (GRCm38)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147 (GRCm38)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782 (GRCm38)	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636 (GRCm38)		probably null	Het
Or10q1	A	G	19: 13,749,934 (GRCm38)	D276G	probably benign	Het
Or11a4	A	G	17: 37,225,326 (GRCm38)	N67S	probably damaging	Het
Or5b94	T	C	19: 12,674,238 (GRCm38)	I11T	probably damaging	Het
Pls1	A	T	9: 95,784,183 (GRCm38)	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512 (GRCm38)	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117 (GRCm38)		probably null	Het
Rrp7a	T	C	15: 83,122,691 (GRCm38)	E15G	probably benign	Het
Scart2	A	T	7: 140,296,540 (GRCm38)	N526Y	probably damaging	Het
Scn1a	T	A	2: 66,277,661 (GRCm38)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215 (GRCm38)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093 (GRCm38)		probably null	Het
Tbxas1	A	G	6: 39,023,080 (GRCm38)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523 (GRCm38)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092 (GRCm38)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543 (GRCm38)	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437 (GRCm38)	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267 (GRCm38)	L34Q	probably damaging	Het

Other mutations in Acaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Acaca	APN	11	84,278,917 (GRCm38)	missense	probably damaging	1.00
IGL01134:Acaca	APN	11	84,251,279 (GRCm38)	missense	probably benign	0.22
IGL01446:Acaca	APN	11	84,260,631 (GRCm38)	missense	probably damaging	1.00
IGL01591:Acaca	APN	11	84,243,320 (GRCm38)	missense	probably damaging	1.00
IGL01663:Acaca	APN	11	84,277,802 (GRCm38)	missense	possibly damaging	0.85
IGL01767:Acaca	APN	11	84,320,542 (GRCm38)	missense	probably benign	0.01
IGL02206:Acaca	APN	11	84,260,747 (GRCm38)	nonsense	probably null
IGL02477:Acaca	APN	11	84,307,168 (GRCm38)	splice site	probably benign
IGL02515:Acaca	APN	11	84,262,403 (GRCm38)	missense	probably benign
IGL02651:Acaca	APN	11	84,245,204 (GRCm38)	splice site	probably benign
IGL02805:Acaca	APN	11	84,223,133 (GRCm38)	splice site	probably benign
IGL03328:Acaca	APN	11	84,320,529 (GRCm38)	missense	probably benign	0.00
effervescence	UTSW	11	84,262,474 (GRCm38)	missense	probably benign	0.41
fizz	UTSW	11	84,245,856 (GRCm38)	missense	probably damaging	0.98
greenhouse	UTSW	11	84,338,356 (GRCm38)	missense	probably damaging	1.00
Serene	UTSW	11	84,311,409 (GRCm38)	splice site	probably null
Tranquil	UTSW	11	84,280,461 (GRCm38)	missense	probably damaging	1.00
vitamin	UTSW	11	84,280,435 (GRCm38)	missense	possibly damaging	0.78
ANU05:Acaca	UTSW	11	84,315,852 (GRCm38)	missense	probably damaging	1.00
R0385:Acaca	UTSW	11	84,231,748 (GRCm38)	missense	probably benign	0.01
R0518:Acaca	UTSW	11	84,290,286 (GRCm38)	critical splice acceptor site	probably null
R0536:Acaca	UTSW	11	84,280,516 (GRCm38)	splice site	probably benign
R0962:Acaca	UTSW	11	84,311,303 (GRCm38)	missense	probably damaging	1.00
R0968:Acaca	UTSW	11	84,239,033 (GRCm38)	nonsense	probably null
R1123:Acaca	UTSW	11	84,264,080 (GRCm38)	missense	probably benign	0.09
R1452:Acaca	UTSW	11	84,295,059 (GRCm38)	splice site	probably benign
R1478:Acaca	UTSW	11	84,372,627 (GRCm38)	missense	probably damaging	1.00
R1500:Acaca	UTSW	11	84,293,984 (GRCm38)	missense	probably benign	0.00
R1512:Acaca	UTSW	11	84,195,469 (GRCm38)	missense	probably benign	0.00
R1657:Acaca	UTSW	11	84,264,084 (GRCm38)	missense	probably benign	0.09
R1681:Acaca	UTSW	11	84,226,185 (GRCm38)	missense	probably damaging	1.00
R1682:Acaca	UTSW	11	84,392,217 (GRCm38)	missense	probably benign	0.23
R1688:Acaca	UTSW	11	84,238,896 (GRCm38)	missense	probably damaging	1.00
R1755:Acaca	UTSW	11	84,276,564 (GRCm38)	frame shift	probably null
R1775:Acaca	UTSW	11	84,300,422 (GRCm38)	missense	possibly damaging	0.56
R1793:Acaca	UTSW	11	84,338,393 (GRCm38)	missense	probably damaging	1.00
R1793:Acaca	UTSW	11	84,315,969 (GRCm38)	missense	probably damaging	0.98
R1855:Acaca	UTSW	11	84,371,554 (GRCm38)	missense	probably damaging	0.96
R1881:Acaca	UTSW	11	84,300,471 (GRCm38)	splice site	probably benign
R1881:Acaca	UTSW	11	84,270,387 (GRCm38)	nonsense	probably null
R1989:Acaca	UTSW	11	84,262,529 (GRCm38)	missense	probably damaging	0.98
R2147:Acaca	UTSW	11	84,276,536 (GRCm38)	missense	probably benign	0.03
R2215:Acaca	UTSW	11	84,363,793 (GRCm38)	missense	probably damaging	1.00
R2238:Acaca	UTSW	11	84,391,505 (GRCm38)	splice site	probably benign
R2252:Acaca	UTSW	11	84,371,532 (GRCm38)	missense	probably damaging	0.99
R2316:Acaca	UTSW	11	84,294,983 (GRCm38)	missense	possibly damaging	0.69
R2316:Acaca	UTSW	11	84,264,080 (GRCm38)	missense	probably benign	0.16
R2337:Acaca	UTSW	11	84,257,197 (GRCm38)	missense	possibly damaging	0.93
R2697:Acaca	UTSW	11	84,364,413 (GRCm38)	missense	probably damaging	1.00
R3551:Acaca	UTSW	11	84,261,624 (GRCm38)	missense	probably damaging	1.00
R3552:Acaca	UTSW	11	84,261,624 (GRCm38)	missense	probably damaging	1.00
R3748:Acaca	UTSW	11	84,311,409 (GRCm38)	splice site	probably null
R3844:Acaca	UTSW	11	84,364,413 (GRCm38)	missense	probably damaging	1.00
R3873:Acaca	UTSW	11	84,312,721 (GRCm38)	unclassified	probably benign
R4152:Acaca	UTSW	11	84,292,926 (GRCm38)	missense	possibly damaging	0.88
R4406:Acaca	UTSW	11	84,280,449 (GRCm38)	missense	probably benign	0.35
R4448:Acaca	UTSW	11	84,262,492 (GRCm38)	missense	probably damaging	1.00
R4642:Acaca	UTSW	11	84,280,461 (GRCm38)	missense	probably damaging	1.00
R4696:Acaca	UTSW	11	84,280,435 (GRCm38)	missense	possibly damaging	0.78
R4707:Acaca	UTSW	11	84,312,854 (GRCm38)	missense	probably damaging	0.96
R4710:Acaca	UTSW	11	84,392,337 (GRCm38)	missense	possibly damaging	0.84
R4775:Acaca	UTSW	11	84,243,339 (GRCm38)	missense	probably damaging	1.00
R4821:Acaca	UTSW	11	84,294,987 (GRCm38)	missense	possibly damaging	0.69
R4883:Acaca	UTSW	11	84,251,290 (GRCm38)	missense	probably benign	0.01
R4988:Acaca	UTSW	11	84,263,295 (GRCm38)	missense	probably damaging	1.00
R5034:Acaca	UTSW	11	84,245,264 (GRCm38)	missense	probably benign	0.00
R5255:Acaca	UTSW	11	84,311,307 (GRCm38)	missense	probably damaging	1.00
R5294:Acaca	UTSW	11	84,391,519 (GRCm38)	missense	probably benign	0.01
R5350:Acaca	UTSW	11	84,215,873 (GRCm38)	missense	probably damaging	0.99
R5437:Acaca	UTSW	11	84,346,820 (GRCm38)	splice site	probably null
R5664:Acaca	UTSW	11	84,243,384 (GRCm38)	missense	probably damaging	1.00
R5665:Acaca	UTSW	11	84,245,294 (GRCm38)	nonsense	probably null
R5959:Acaca	UTSW	11	84,215,966 (GRCm38)	missense	probably damaging	1.00
R6011:Acaca	UTSW	11	84,245,744 (GRCm38)	missense	probably benign	0.44
R6027:Acaca	UTSW	11	84,398,177 (GRCm38)	missense	probably benign
R6246:Acaca	UTSW	11	84,315,970 (GRCm38)	missense	probably benign	0.08
R6313:Acaca	UTSW	11	84,292,929 (GRCm38)	missense	probably benign	0.00
R6450:Acaca	UTSW	11	84,280,468 (GRCm38)	missense	probably damaging	0.98
R6623:Acaca	UTSW	11	84,371,499 (GRCm38)	critical splice acceptor site	probably null
R6736:Acaca	UTSW	11	84,238,838 (GRCm38)	missense	probably benign	0.05
R6752:Acaca	UTSW	11	84,195,483 (GRCm38)	missense	probably benign	0.44
R6807:Acaca	UTSW	11	84,391,530 (GRCm38)	missense	probably benign
R6826:Acaca	UTSW	11	84,195,536 (GRCm38)	missense	probably damaging	1.00
R7035:Acaca	UTSW	11	84,238,943 (GRCm38)	missense	probably damaging	1.00
R7078:Acaca	UTSW	11	84,263,312 (GRCm38)	missense	possibly damaging	0.91
R7088:Acaca	UTSW	11	84,278,957 (GRCm38)	critical splice donor site	probably null
R7201:Acaca	UTSW	11	84,262,474 (GRCm38)	missense	probably benign	0.41
R7261:Acaca	UTSW	11	84,368,700 (GRCm38)	missense	probably damaging	1.00
R7399:Acaca	UTSW	11	84,260,679 (GRCm38)	missense	possibly damaging	0.89
R7421:Acaca	UTSW	11	84,363,736 (GRCm38)	missense	possibly damaging	0.64
R7443:Acaca	UTSW	11	84,315,793 (GRCm38)	missense	probably benign	0.02
R7453:Acaca	UTSW	11	84,245,310 (GRCm38)	missense	probably benign
R7471:Acaca	UTSW	11	84,277,782 (GRCm38)	splice site	probably null
R7519:Acaca	UTSW	11	84,245,856 (GRCm38)	missense	probably damaging	0.98
R7537:Acaca	UTSW	11	84,260,634 (GRCm38)	missense	probably damaging	1.00
R7574:Acaca	UTSW	11	84,261,588 (GRCm38)	missense	probably benign
R7633:Acaca	UTSW	11	84,372,639 (GRCm38)	missense	probably benign	0.26
R7643:Acaca	UTSW	11	84,338,356 (GRCm38)	missense	probably damaging	1.00
R7664:Acaca	UTSW	11	84,245,349 (GRCm38)	missense	probably damaging	1.00
R7675:Acaca	UTSW	11	84,315,916 (GRCm38)	missense	probably benign	0.04
R7676:Acaca	UTSW	11	84,294,987 (GRCm38)	missense	possibly damaging	0.69
R7729:Acaca	UTSW	11	84,371,513 (GRCm38)	missense	probably damaging	0.98
R7867:Acaca	UTSW	11	84,249,524 (GRCm38)	missense	possibly damaging	0.88
R7898:Acaca	UTSW	11	84,364,449 (GRCm38)	critical splice donor site	probably null
R7909:Acaca	UTSW	11	84,245,235 (GRCm38)	missense	possibly damaging	0.56
R7915:Acaca	UTSW	11	84,276,588 (GRCm38)	missense	probably benign
R7956:Acaca	UTSW	11	84,320,580 (GRCm38)	missense	probably damaging	0.98
R8000:Acaca	UTSW	11	84,392,231 (GRCm38)	missense	possibly damaging	0.88
R8038:Acaca	UTSW	11	84,215,904 (GRCm38)	missense	probably damaging	1.00
R8545:Acaca	UTSW	11	84,345,968 (GRCm38)	missense	probably damaging	1.00
R8722:Acaca	UTSW	11	84,338,457 (GRCm38)	missense	possibly damaging	0.85
R9005:Acaca	UTSW	11	84,371,584 (GRCm38)	missense	probably damaging	0.99
R9130:Acaca	UTSW	11	84,311,319 (GRCm38)	missense	probably damaging	1.00
R9397:Acaca	UTSW	11	84,368,725 (GRCm38)	missense	probably damaging	1.00
R9489:Acaca	UTSW	11	84,293,016 (GRCm38)	missense	probably benign	0.01
R9540:Acaca	UTSW	11	84,243,411 (GRCm38)	missense	probably damaging	1.00
R9593:Acaca	UTSW	11	84,380,513 (GRCm38)	nonsense	probably null
R9605:Acaca	UTSW	11	84,293,016 (GRCm38)	missense	probably benign	0.01
R9634:Acaca	UTSW	11	84,293,990 (GRCm38)	missense	probably benign	0.00
R9720:Acaca	UTSW	11	84,263,357 (GRCm38)	missense	probably damaging	1.00
RF014:Acaca	UTSW	11	84,231,724 (GRCm38)	missense	probably benign	0.01
X0027:Acaca	UTSW	11	84,292,895 (GRCm38)	missense	probably benign	0.01
X0060:Acaca	UTSW	11	84,264,104 (GRCm38)	missense	probably benign
X0067:Acaca	UTSW	11	84,368,737 (GRCm38)	nonsense	probably null
Z1176:Acaca	UTSW	11	84,260,720 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16