Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Acaca'

389457

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

042625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84245264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 482 (S482T)

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: S482T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: S482T

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: S482T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: S482T

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

0.1062

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,791,388	V368A	probably damaging	Het
Adam6b	G	T	12: 113,490,927	G455C	probably damaging	Het
Ahsg	C	A	16: 22,898,900	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,502,193	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,727,720		probably benign	Het
Col12a1	T	C	9: 79,657,367	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,962,620		probably null	Het
Csmd2	G	A	4: 128,059,108	A117T	probably damaging	Het
Csmd3	T	C	15: 47,629,287	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,552,884	N342D	probably benign	Het
Dennd5a	A	T	7: 109,899,797	I953N	probably damaging	Het
Dmwd	T	C	7: 19,080,294	S290P	probably damaging	Het
Dsc1	T	A	18: 20,095,027	Y424F	possibly damaging	Het
Far2	C	A	6: 148,173,441	L391M	probably benign	Het
Foxd3	G	A	4: 99,657,090	G156S	probably damaging	Het
Galk2	A	T	2: 125,929,575	E173D	probably benign	Het
Hcar1	T	C	5: 123,879,669		probably benign	Het
Hsd17b11	C	T	5: 104,018,221	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,861,874	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,109,405	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,401,910		probably benign	Het
Kif21a	T	A	15: 90,968,358	R890W	probably null	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Magel2	A	T	7: 62,379,868	H840L	unknown	Het
Mrgpra4	A	G	7: 47,981,569	F95L	probably benign	Het
Myo7b	A	G	18: 31,971,387	L1436P	probably damaging	Het
Nf1	C	T	11: 79,444,150	P943S	probably damaging	Het
Obscn	T	A	11: 59,061,676	R4153*	probably null	Het
Olfr1026	C	A	2: 85,923,547	S93Y	probably damaging	Het
Oosp2	T	C	19: 11,651,535	I67M	probably damaging	Het
Pcdh9	T	A	14: 93,326,849	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,448,806	S322P	probably damaging	Het
Pde2a	A	G	7: 101,502,024	D285G	probably benign	Het
Pde5a	G	T	3: 122,852,587	G809V	probably damaging	Het
Pde5a	G	C	3: 122,852,586	G809R	probably damaging	Het
Pphln1	T	C	15: 93,452,129	V120A	probably benign	Het
Rictor	T	C	15: 6,768,095	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,493,824	D153G	probably damaging	Het
Rmdn3	G	T	2: 119,147,577	A181E	probably damaging	Het
Rnf213	G	A	11: 119,410,807	V369M	probably damaging	Het
Scyl1	T	A	19: 5,759,994	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118		probably null	Het
Sept8	A	G	11: 53,534,438	T53A	probably damaging	Het
Sfpq	A	G	4: 127,023,669		probably benign	Het
Slc35b3	A	G	13: 38,943,158	Y163H	probably damaging	Het
Sra1	A	G	18: 36,678,995		probably null	Het
Sspo	A	T	6: 48,480,823	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,417,543	V218A	possibly damaging	Het
Tgm3	T	C	2: 130,037,484	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,591,384		probably benign	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Trdv2-2	C	A	14: 53,961,425	Y57*	probably null	Het
Trim50	T	C	5: 135,367,293	V365A	possibly damaging	Het
Ubash3b	T	C	9: 41,029,740	Q245R	probably benign	Het
Ulk3	T	A	9: 57,593,764	V338E	possibly damaging	Het
Usf3	A	C	16: 44,216,399	K414T	probably damaging	Het
Usp48	C	T	4: 137,606,757	R161*	probably null	Het
Vps18	A	T	2: 119,293,306	D238V	probably benign	Het
Zfp354c	T	C	11: 50,815,039	E403G	probably benign	Het
Zscan18	A	G	7: 12,774,145	V476A	probably 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
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	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
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'- GGGAATGATCCTAGCAAATAACCC -3'
(R):5'- CGGTCCAAGACTTCAAAAGC -3'

Sequencing Primer
(F):5'- CCTAGCAAATAACCCTTAGCATTGTG -3'
(R):5'- GGTCCAAGACTTCAAAAGCATGTC -3'

Posted On

2016-06-06