Mutagenetix > Incidental Mutation

Incidental Mutation 'R4406:Acaca'

327671

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

041688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84280449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1170 (L1170F)

Ref Sequence

ENSEMBL: ENSMUSP00000099490 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

probably benign
Transcript: ENSMUST00000020843
AA Change: L1170F

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: L1170F

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: L1170F

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: L1170F

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

Meta Mutation Damage Score

0.1093

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	T	10: 107,053,337 (GRCm38)	D207E	probably damaging	Het
Adgrl1	T	C	8: 83,930,042 (GRCm38)	S325P	probably damaging	Het
Ankrd37	A	G	8: 45,997,094 (GRCm38)		probably benign	Het
Atp13a2	C	T	4: 141,006,476 (GRCm38)	P1059S	probably damaging	Het
Camkv	T	C	9: 107,946,219 (GRCm38)		probably null	Het
Ces1f	T	C	8: 93,263,322 (GRCm38)	T387A	probably benign	Het
Dmxl1	T	A	18: 49,889,553 (GRCm38)	L1653I	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fat2	G	A	11: 55,262,268 (GRCm38)	A3706V	probably benign	Het
Fbln1	T	A	15: 85,231,556 (GRCm38)		probably null	Het
Gm1527	G	A	3: 28,895,725 (GRCm38)	V45M	possibly damaging	Het
Gm5084	A	G	13: 60,212,566 (GRCm38)		noncoding transcript	Het
Itpr1	T	A	6: 108,354,663 (GRCm38)	H194Q	probably damaging	Het
Kif24	A	T	4: 41,393,954 (GRCm38)	L973Q	probably damaging	Het
Lrfn4	T	C	19: 4,613,271 (GRCm38)	T412A	probably benign	Het
Ly75	T	C	2: 60,354,550 (GRCm38)	E420G	probably damaging	Het
Map3k12	T	C	15: 102,505,402 (GRCm38)	T45A	probably damaging	Het
Mib1	A	C	18: 10,763,289 (GRCm38)	K446N	probably damaging	Het
Mrpl4	T	C	9: 21,006,935 (GRCm38)	W146R	probably damaging	Het
Myof	A	G	19: 37,922,978 (GRCm38)	S1502P	probably damaging	Het
Nomo1	A	G	7: 46,056,668 (GRCm38)	N482S	probably benign	Het
Olfr1385	G	A	11: 49,494,917 (GRCm38)	R128H	probably benign	Het
Olfr1411	T	A	1: 92,597,314 (GRCm38)	M265K	possibly damaging	Het
Olfr1446	A	T	19: 12,890,234 (GRCm38)	Y114*	probably null	Het
Olfr1458	A	G	19: 13,102,594 (GRCm38)	S237P	possibly damaging	Het
Olfr935	T	C	9: 38,994,569 (GRCm38)	I289V	possibly damaging	Het
Osbpl10	C	T	9: 115,109,481 (GRCm38)	H70Y	probably damaging	Het
Pdilt	A	C	7: 119,495,009 (GRCm38)	S340A	probably damaging	Het
Ppan	C	A	9: 20,890,992 (GRCm38)	D226E	probably damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Sema3g	G	A	14: 31,228,159 (GRCm38)	V766M	probably benign	Het
Skint6	T	A	4: 113,156,486 (GRCm38)	N356I	probably benign	Het
Slco2b1	A	T	7: 99,664,889 (GRCm38)	S496T	probably benign	Het
Trak1	T	C	9: 121,431,536 (GRCm38)	V11A	probably damaging	Het
Ubqlnl	C	T	7: 104,149,718 (GRCm38)	V191M	probably benign	Het
Umod	G	A	7: 119,466,064 (GRCm38)	P581S	probably damaging	Het
Zfat	A	G	15: 68,180,191 (GRCm38)	S585P	probably benign	Het
Zfp472	C	A	17: 32,978,160 (GRCm38)	T403N	probably benign	Het
Zfp936	A	G	7: 43,190,324 (GRCm38)	Q405R	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTACCTCACGGCAAACTGC -3'
(R):5'- GGTATCAAGAAGCACCTCCTTCAG -3'

Sequencing Primer
(F):5'- TGCCATCTCGGTAACAGATG -3'
(R):5'- AGGGTTCATTCAAGTCTGCC -3'

Posted On

2015-07-07