Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Acaca'

233937

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

040150-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84276536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1045 (D1045E)

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: D1045E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: D1045E

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: D1045E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: D1045E

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,751,571	D647G	probably benign	Het
4930523C07Rik	T	A	1: 160,075,433	M91K	probably benign	Het
Abr	T	C	11: 76,455,648	R437G	probably damaging	Het
Adam23	A	T	1: 63,534,362		probably null	Het
Adam34	A	G	8: 43,652,501	Y36H	probably benign	Het
Alg11	G	A	8: 22,065,293	G108D	probably damaging	Het
Alox12e	A	T	11: 70,319,945	I316N	probably damaging	Het
Arid1a	A	T	4: 133,681,366	F1943L	unknown	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC035044	T	C	6: 128,890,904		probably benign	Het
Bcor	G	A	X: 12,057,623	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccnf	A	T	17: 24,230,314		probably null	Het
Cdadc1	A	G	14: 59,597,753		probably null	Het
Cep57l1	A	G	10: 41,740,899	Y131H	probably damaging	Het
Cfap44	A	G	16: 44,451,684	R1267G	probably benign	Het
Chd3	A	T	11: 69,349,028	L1658Q	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chpf2	T	A	5: 24,592,035	F660I	probably damaging	Het
Cmas	T	A	6: 142,771,289	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
D430042O09Rik	T	A	7: 125,865,320	H1286Q	probably damaging	Het
Dennd3	T	G	15: 73,523,487	L143R	probably damaging	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Ergic1	A	G	17: 26,636,050		probably null	Het
Fbxl15	A	T	19: 46,329,188	D103V	probably damaging	Het
Gm4781	C	A	10: 100,396,552		noncoding transcript	Het
Hpca	A	G	4: 129,118,485	I86T	possibly damaging	Het
Lamb3	T	C	1: 193,327,904	V275A	probably benign	Het
Lipe	G	T	7: 25,388,521	A38E	probably benign	Het
Lrrk1	A	T	7: 66,285,411		probably null	Het
Lrsam1	T	C	2: 32,945,879	K292R	probably damaging	Het
Mbtps1	A	T	8: 119,538,859	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063	Y525*	probably null	Het
Mrps14	T	C	1: 160,195,292	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myo15	A	G	11: 60,510,229	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,809,200	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,622,175	F42I	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,479	I77F	probably damaging	Het
Pank1	T	C	19: 34,827,354	H134R	probably benign	Het
Pcdh7	T	A	5: 58,129,116	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,667,605	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Phf2	T	C	13: 48,804,689	K950E	unknown	Het
Pitpnc1	C	T	11: 107,212,518	A252T	probably damaging	Het
Prickle2	A	G	6: 92,425,671	L112P	probably damaging	Het
Prpf8	A	G	11: 75,490,531	I231V	probably benign	Het
Scin	T	A	12: 40,080,985	M310L	probably benign	Het
Serpina3m	T	A	12: 104,389,224	I50N	probably benign	Het
Skint8	C	G	4: 111,937,077	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,183,007	V673M	probably benign	Het
Slc24a5	A	G	2: 125,087,441	D368G	probably damaging	Het
Slc28a1	A	T	7: 81,126,267	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,398,588	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,105,375	Y320H	probably damaging	Het
Syne3	T	A	12: 104,953,098	D512V	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,334,302	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,207,501	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,219,050	I217V	probably benign	Het
Tmem45b	A	G	9: 31,428,981	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,446,022	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,621,142	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,301,794	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,864,330	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,137,598	I82M	probably benign	Het
Vmn2r-ps159	T	C	4: 156,334,719		noncoding transcript	Het
Vps41	G	T	13: 18,839,734		probably null	Het
Wdr66	T	C	5: 123,256,191	V381A	probably benign	Het
Wnt5a	A	G	14: 28,513,317	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,610,444	H731R	probably damaging	Het
Zfp712	T	C	13: 67,041,896	E189G	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
effervescence	UTSW	11	84262474	missense	probably benign	0.41
fizz	UTSW	11	84245856	missense	probably damaging	0.98
greenhouse	UTSW	11	84338356	missense	probably damaging	1.00
Serene	UTSW	11	84311409	splice site	probably null
Tranquil	UTSW	11	84280461	missense	probably damaging	1.00
vitamin	UTSW	11	84280435	missense	possibly damaging	0.78
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
R1688:Acaca	UTSW	11	84238896	missense	probably damaging	1.00
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
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	splice site	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
R7035:Acaca	UTSW	11	84238943	missense	probably damaging	1.00
R7078:Acaca	UTSW	11	84263312	missense	possibly damaging	0.91
R7088:Acaca	UTSW	11	84278957	critical splice donor site	probably null
R7201:Acaca	UTSW	11	84262474	missense	probably benign	0.41
R7261:Acaca	UTSW	11	84368700	missense	probably damaging	1.00
R7399:Acaca	UTSW	11	84260679	missense	possibly damaging	0.89
R7421:Acaca	UTSW	11	84363736	missense	possibly damaging	0.64
R7443:Acaca	UTSW	11	84315793	missense	probably benign	0.02
R7453:Acaca	UTSW	11	84245310	missense	probably benign
R7471:Acaca	UTSW	11	84277782	splice site	probably null
R7519:Acaca	UTSW	11	84245856	missense	probably damaging	0.98
R7537:Acaca	UTSW	11	84260634	missense	probably damaging	1.00
R7574:Acaca	UTSW	11	84261588	missense	probably benign
R7633:Acaca	UTSW	11	84372639	missense	probably benign	0.26
R7643:Acaca	UTSW	11	84338356	missense	probably damaging	1.00
R7664:Acaca	UTSW	11	84245349	missense	probably damaging	1.00
R7675:Acaca	UTSW	11	84315916	missense	probably benign	0.04
R7676:Acaca	UTSW	11	84294987	missense	possibly damaging	0.69
R7729:Acaca	UTSW	11	84371513	missense	probably damaging	0.98
R7867:Acaca	UTSW	11	84249524	missense	possibly damaging	0.88
R7898:Acaca	UTSW	11	84364449	critical splice donor site	probably null
R7909:Acaca	UTSW	11	84245235	missense	possibly damaging	0.56
R7915:Acaca	UTSW	11	84276588	missense	probably benign
R7956:Acaca	UTSW	11	84320580	missense	probably damaging	0.98
R8000:Acaca	UTSW	11	84392231	missense	possibly damaging	0.88
R8038:Acaca	UTSW	11	84215904	missense	probably damaging	1.00
R8545:Acaca	UTSW	11	84345968	missense	probably damaging	1.00
R8722:Acaca	UTSW	11	84338457	missense	possibly damaging	0.85
R9005:Acaca	UTSW	11	84371584	missense	probably damaging	0.99
R9130:Acaca	UTSW	11	84311319	missense	probably damaging	1.00
R9397:Acaca	UTSW	11	84368725	missense	probably damaging	1.00
R9489:Acaca	UTSW	11	84293016	missense	probably benign	0.01
R9540:Acaca	UTSW	11	84243411	missense	probably damaging	1.00
R9593:Acaca	UTSW	11	84380513	nonsense	probably null
R9605:Acaca	UTSW	11	84293016	missense	probably benign	0.01
R9634:Acaca	UTSW	11	84293990	missense	probably benign	0.00
R9720:Acaca	UTSW	11	84263357	missense	probably damaging	1.00
RF014:Acaca	UTSW	11	84231724	missense	probably benign	0.01
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
Z1176:Acaca	UTSW	11	84260720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAAAGAGAGTCTCCCTAAGATG -3'
(R):5'- TGTGTCTAGAACTGCCCAAAC -3'

Sequencing Primer
(F):5'- GGTACAGAAATTCTTCCAGAAATGGC -3'
(R):5'- GAACTGCCCAAACTAAGAAAAATATC -3'

Posted On

2014-10-01