Mutagenetix > Incidental Mutations

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

Is this an 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

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]

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

0.358

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

Other mutations in Acaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Acaca	APN	11	84278917	missense	probably damaging	1.00
IGL01134:Acaca	APN	11	84251279	missense	probably benign	0.22
IGL01446:Acaca	APN	11	84260631	missense	probably damaging	1.00
IGL01591:Acaca	APN	11	84243320	missense	probably damaging	1.00
IGL01663:Acaca	APN	11	84277802	missense	possibly damaging	0.85
IGL01767:Acaca	APN	11	84320542	missense	probably benign	0.01
IGL02206:Acaca	APN	11	84260747	nonsense	probably null
IGL02335:Acaca	APN	11	84214258	missense	possibly damaging	0.84
IGL02477:Acaca	APN	11	84307168	splice site	probably benign
IGL02515:Acaca	APN	11	84262403	missense	probably benign
IGL02651:Acaca	APN	11	84245204	splice site	probably benign
IGL02805:Acaca	APN	11	84223133	splice site	probably benign
IGL03328:Acaca	APN	11	84320529	missense	probably benign	0.00
ANU05:Acaca	UTSW	11	84315852	missense	probably damaging	1.00
R0385:Acaca	UTSW	11	84231748	missense	probably benign	0.01
R0518:Acaca	UTSW	11	84290286	critical splice acceptor site	probably null
R0536:Acaca	UTSW	11	84280516	splice site	probably benign
R0962:Acaca	UTSW	11	84311303	missense	probably damaging	1.00
R0968:Acaca	UTSW	11	84239033	nonsense	probably null
R1123:Acaca	UTSW	11	84264080	missense	probably benign	0.09
R1452:Acaca	UTSW	11	84295059	splice site	probably benign
R1478:Acaca	UTSW	11	84372627	missense	probably damaging	1.00
R1500:Acaca	UTSW	11	84293984	missense	probably benign	0.00
R1512:Acaca	UTSW	11	84195469	missense	probably benign	0.00
R1657:Acaca	UTSW	11	84264084	missense	probably benign	0.09
R1681:Acaca	UTSW	11	84226185	missense	probably damaging	1.00
R1682:Acaca	UTSW	11	84392217	missense	probably benign	0.23
R1755:Acaca	UTSW	11	84276564	frame shift	probably null
R1775:Acaca	UTSW	11	84300422	missense	possibly damaging	0.56
R1793:Acaca	UTSW	11	84315969	missense	probably damaging	0.98
R1793:Acaca	UTSW	11	84338393	missense	probably damaging	1.00
R1855:Acaca	UTSW	11	84371554	missense	probably damaging	0.96
R1881:Acaca	UTSW	11	84270387	nonsense	probably null
R1881:Acaca	UTSW	11	84300471	splice site	probably benign
R1989:Acaca	UTSW	11	84262529	missense	probably damaging	0.98
R2147:Acaca	UTSW	11	84276536	missense	probably benign	0.03
R2215:Acaca	UTSW	11	84363793	missense	probably damaging	1.00
R2238:Acaca	UTSW	11	84391505	splice site	probably benign
R2252:Acaca	UTSW	11	84371532	missense	probably damaging	0.99
R2316:Acaca	UTSW	11	84264080	missense	probably benign	0.16
R2316:Acaca	UTSW	11	84294983	missense	possibly damaging	0.69
R2337:Acaca	UTSW	11	84257197	missense	possibly damaging	0.93
R2697:Acaca	UTSW	11	84364413	missense	probably damaging	1.00
R3551:Acaca	UTSW	11	84261624	missense	probably damaging	1.00
R3552:Acaca	UTSW	11	84261624	missense	probably damaging	1.00
R3748:Acaca	UTSW	11	84311409	unclassified	probably null
R3844:Acaca	UTSW	11	84364413	missense	probably damaging	1.00
R3873:Acaca	UTSW	11	84312721	unclassified	probably benign
R4152:Acaca	UTSW	11	84292926	missense	possibly damaging	0.88
R4406:Acaca	UTSW	11	84280449	missense	probably benign	0.35
R4448:Acaca	UTSW	11	84262492	missense	probably damaging	1.00
R4642:Acaca	UTSW	11	84280461	missense	probably damaging	1.00
R4696:Acaca	UTSW	11	84280435	missense	possibly damaging	0.78
R4707:Acaca	UTSW	11	84312854	missense	probably damaging	0.96
R4710:Acaca	UTSW	11	84392337	missense	possibly damaging	0.84
R4775:Acaca	UTSW	11	84243339	missense	probably damaging	1.00
R4821:Acaca	UTSW	11	84294987	missense	possibly damaging	0.69
R4883:Acaca	UTSW	11	84251290	missense	probably benign	0.01
R4988:Acaca	UTSW	11	84263295	missense	probably damaging	1.00
R5034:Acaca	UTSW	11	84245264	missense	probably benign	0.00
R5255:Acaca	UTSW	11	84311307	missense	probably damaging	1.00
R5294:Acaca	UTSW	11	84391519	missense	probably benign	0.01
R5350:Acaca	UTSW	11	84215873	missense	probably damaging	0.99
R5437:Acaca	UTSW	11	84346820	splice site	probably null
R5664:Acaca	UTSW	11	84243384	missense	probably damaging	1.00
R5665:Acaca	UTSW	11	84245294	nonsense	probably null
R5959:Acaca	UTSW	11	84215966	missense	probably damaging	1.00
R6011:Acaca	UTSW	11	84245744	missense	probably benign	0.44
R6027:Acaca	UTSW	11	84398177	missense	probably benign
R6246:Acaca	UTSW	11	84315970	missense	probably benign	0.08
R6313:Acaca	UTSW	11	84292929	missense	probably benign	0.00
R6450:Acaca	UTSW	11	84280468	missense	probably damaging	0.98
R6623:Acaca	UTSW	11	84371499	critical splice acceptor site	probably null
R6736:Acaca	UTSW	11	84238838	missense	probably benign	0.05
R6752:Acaca	UTSW	11	84195483	missense	probably benign	0.44
R6807:Acaca	UTSW	11	84391530	missense	probably benign
R6826:Acaca	UTSW	11	84195536	missense	probably damaging	1.00
X0027:Acaca	UTSW	11	84292895	missense	probably benign	0.01
X0060:Acaca	UTSW	11	84264104	missense	probably benign
X0067:Acaca	UTSW	11	84368737	nonsense	probably null

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