Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Acaca'

480123

Institutional Source

Beutler Lab

Gene Symbol

Acaca

Ensembl Gene

ENSMUSG00000020532

Gene Name

acetyl-Coenzyme A carboxylase alpha

Synonyms

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

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6027 (G1)

Quality Score

165.009

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84398177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2299 (V2299A)

Ref Sequence

ENSEMBL: ENSMUSP00000099490 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

probably benign
Transcript: ENSMUST00000020843
AA Change: V2299A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: V2299A

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: V2299A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: V2299A

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

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,165,600 (GRCm38)	D28G	probably benign	Het
Adamts6	G	A	13: 104,479,535 (GRCm38)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,191,025 (GRCm38)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Ank2	T	C	3: 126,997,879 (GRCm38)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,244,667 (GRCm38)	L105F	probably damaging	Het
Asah2	T	C	19: 32,044,951 (GRCm38)	N228D	probably benign	Het
Ash1l	T	C	3: 88,985,019 (GRCm38)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,463,056 (GRCm38)	V693G	probably damaging	Het
Bptf	T	C	11: 107,074,945 (GRCm38)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,656,578 (GRCm38)		probably null	Het
Csmd2	G	A	4: 128,559,946 (GRCm38)	D3475N	unknown	Het
Dctn5	T	C	7: 122,133,341 (GRCm38)		probably benign	Het
Dhrs4	A	G	14: 55,486,123 (GRCm38)	K18E	probably benign	Het
Eci2	A	T	13: 34,985,947 (GRCm38)		probably null	Het
Efcab6	A	G	15: 83,967,721 (GRCm38)	F319L	probably benign	Het
Elane	A	T	10: 79,887,018 (GRCm38)	H86L	probably damaging	Het
Endod1	A	T	9: 14,357,597 (GRCm38)	Y197*	probably null	Het
Eno4	A	G	19: 58,946,830 (GRCm38)	D158G	probably damaging	Het
Fam217a	T	A	13: 34,910,994 (GRCm38)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 86,048,086 (GRCm38)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,073,918 (GRCm38)	A2E	possibly damaging	Het
Gan	A	G	8: 117,158,295 (GRCm38)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,451,611 (GRCm38)	N194K	possibly damaging	Het
Gm15448	T	C	7: 3,824,639 (GRCm38)	Y173C	possibly damaging	Het
Gnptab	A	G	10: 88,433,225 (GRCm38)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,802,895 (GRCm38)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,096,871 (GRCm38)	H56N	probably damaging	Het
Kank3	C	T	17: 33,818,114 (GRCm38)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,483,059 (GRCm38)		probably null	Het
Kif1a	A	T	1: 93,025,643 (GRCm38)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,819,290 (GRCm38)		probably benign	Het
Lypla1	T	C	1: 4,837,076 (GRCm38)		probably null	Het
Man2b1	C	T	8: 85,096,752 (GRCm38)	T905I	probably damaging	Het
Mmp15	C	A	8: 95,372,176 (GRCm38)	H544N	probably benign	Het
Myh7	A	T	14: 54,970,802 (GRCm38)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,713,376 (GRCm38)	A730S	probably benign	Het
Nmur1	G	A	1: 86,387,331 (GRCm38)	Q238*	probably null	Het
Nwd2	C	T	5: 63,808,220 (GRCm38)	P1716S	possibly damaging	Het
Olfr1085	T	G	2: 86,657,804 (GRCm38)	Y218S	probably damaging	Het
Olfr157	A	G	4: 43,835,842 (GRCm38)	V216A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
P2ry6	T	G	7: 100,938,508 (GRCm38)	M215L	probably benign	Het
Parp4	G	A	14: 56,629,158 (GRCm38)	E1060K	probably benign	Het
Pde10a	A	G	17: 8,964,677 (GRCm38)	I822V	possibly damaging	Het
Pkd1l1	C	A	11: 8,916,272 (GRCm38)	G528*	probably null	Het
Ptk2	T	A	15: 73,229,913 (GRCm38)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,222,038 (GRCm38)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,744,074 (GRCm38)	W458R	probably damaging	Het
Ros1	G	T	10: 52,163,968 (GRCm38)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,547,808 (GRCm38)		probably benign	Het
Sarm1	T	A	11: 78,483,558 (GRCm38)	M577L	probably benign	Het
Scin	T	C	12: 40,077,516 (GRCm38)	Y425C	probably damaging	Het
Serpina12	T	A	12: 104,031,077 (GRCm38)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,582,852 (GRCm38)	Y69*	probably null	Het
Skint6	T	C	4: 113,096,564 (GRCm38)		probably null	Het
Slc7a1	A	C	5: 148,333,964 (GRCm38)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,306,178 (GRCm38)	Y933N	probably benign	Het
Sp110	T	C	1: 85,577,318 (GRCm38)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,653,674 (GRCm38)	R114S	probably damaging	Het
Trim11	C	T	11: 58,978,463 (GRCm38)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,487,748 (GRCm38)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,860,436 (GRCm38)	D194E	probably benign	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
IGL02335:Acaca	APN	11	84,214,258 (GRCm38)	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- CGAACAGCGTCTGTACACCAAG -3'
(R):5'- ACGTGGTTTGAGTCTCTGTACC -3'

Sequencing Primer
(F):5'- GCTCTTGGAATACTAGACAATTGGG -3'
(R):5'- AGTCTCTGTACCTAGAGTGAACGC -3'

Posted On

2017-06-26