Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Acaca'

189510

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

039721-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84238896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 359 (V359G)

Ref Sequence

ENSEMBL: ENSMUSP00000099490 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000020843
AA Change: V359G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: V359G

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 damaging
Transcript: ENSMUST00000103201
AA Change: V359G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: V359G

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

noncoding transcript
Transcript: ENSMUST00000183548

Meta Mutation Damage Score

0.8200

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,228,609 (GRCm38)	V2113A	probably benign	Het
4930486L24Rik	T	C	13: 60,854,881 (GRCm38)	T20A	probably benign	Het
Adgb	G	A	10: 10,350,317 (GRCm38)	R1359*	probably null	Het
Aggf1	T	C	13: 95,364,767 (GRCm38)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm38)	D418E	probably damaging	Het
Alox8	T	C	11: 69,189,906 (GRCm38)	D203G	probably benign	Het
Ank	A	G	15: 27,557,234 (GRCm38)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,080,834 (GRCm38)		probably null	Het
Arhgap45	A	G	10: 80,029,095 (GRCm38)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,640,300 (GRCm38)	D571G	probably benign	Het
Bdh2	A	T	3: 135,301,638 (GRCm38)	Y223F	possibly damaging	Het
Bin1	G	A	18: 32,424,972 (GRCm38)		probably benign	Het
Bin1	T	C	18: 32,419,935 (GRCm38)		probably benign	Het
Cacna1g	T	A	11: 94,425,953 (GRCm38)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,705,091 (GRCm38)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,569,646 (GRCm38)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,551,036 (GRCm38)	N14S	probably benign	Het
Crybg1	A	T	10: 43,973,798 (GRCm38)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,994,443 (GRCm38)		probably null	Het
Daam1	A	T	12: 71,947,046 (GRCm38)	I408F	unknown	Het
Dsc3	T	A	18: 19,966,227 (GRCm38)	D744V	probably damaging	Het
Eprs	T	C	1: 185,384,896 (GRCm38)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,072,870 (GRCm38)	D417E	unknown	Het
Eya4	A	T	10: 23,123,861 (GRCm38)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,251,919 (GRCm38)		noncoding transcript	Het
Havcr2	T	C	11: 46,479,364 (GRCm38)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,824,966 (GRCm38)		probably null	Het
Ikzf2	T	C	1: 69,542,280 (GRCm38)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 70,819,402 (GRCm38)	G587R	probably damaging	Het
Immt	A	T	6: 71,857,011 (GRCm38)	H208L	probably damaging	Het
Kcnq2	C	T	2: 181,087,033 (GRCm38)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,945,805 (GRCm38)		probably benign	Het
Mc2r	T	A	18: 68,408,019 (GRCm38)	I68F	possibly damaging	Het
Neil3	T	C	8: 53,601,034 (GRCm38)	E320G	probably damaging	Het
Nell2	T	C	15: 95,431,613 (GRCm38)	T276A	probably damaging	Het
Nphp3	T	C	9: 104,003,124 (GRCm38)	L115P	probably damaging	Het
Nras	T	C	3: 103,060,373 (GRCm38)	L95P	probably benign	Het
Ogt	G	A	X: 101,655,690 (GRCm38)	V190I	probably damaging	Het
Olfr1102	A	G	2: 87,002,386 (GRCm38)	Y139C	probably benign	Het
Olfr745	A	T	14: 50,643,248 (GRCm38)	K322N	probably benign	Het
P2ry6	T	A	7: 100,938,384 (GRCm38)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,461,334 (GRCm38)	S153P	probably damaging	Het
Pclo	T	C	5: 14,788,493 (GRCm38)		probably null	Het
Per2	A	G	1: 91,423,829 (GRCm38)	L985P	probably damaging	Het
Phip	T	C	9: 82,871,657 (GRCm38)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 109,623,818 (GRCm38)	S432G	probably benign	Het
Plin4	T	A	17: 56,109,363 (GRCm38)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 33,615,452 (GRCm38)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,586,224 (GRCm38)	E577G	probably benign	Het
Ptprd	G	T	4: 75,982,684 (GRCm38)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,787,345 (GRCm38)	D866G	probably benign	Het
Rdx	T	C	9: 52,060,911 (GRCm38)		probably benign	Het
Rgsl1	C	T	1: 153,804,676 (GRCm38)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,357,934 (GRCm38)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,424 (GRCm38)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,118,643 (GRCm38)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,433,807 (GRCm38)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,715,460 (GRCm38)	S141T	possibly damaging	Het
Tada2a	T	C	11: 84,084,759 (GRCm38)		probably null	Het
Tmem8	C	T	17: 26,118,908 (GRCm38)	A422V	possibly damaging	Het
Tspan10	A	G	11: 120,442,782 (GRCm38)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,795,379 (GRCm38)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,201,103 (GRCm38)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,129,041 (GRCm38)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,520,154 (GRCm38)	N538K	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTTGCTATAACTAAGAATGCAGCACA -3'
(R):5'- TGGTGAAAGAGAAACCCTGTCTCGAA -3'

Sequencing Primer
(F):5'- GACAAAGGCATGGACTATACTTC -3'
(R):5'- CCATACCCATAATAGTACTTGAGCTG -3'

Posted On

2014-05-14