Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Acaca'

716850

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84293016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1240 (T1240I)

Ref Sequence

ENSEMBL: ENSMUSP00000020843 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

probably benign
Transcript: ENSMUST00000020843
AA Change: T1240I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: T1240I

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: T1240I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: T1240I

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
AA Change: T61I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532
AA Change: T61I

Domain	Start	End	E-Value	Type
Pfam:ACC_central	1	228	8.6e-57	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,854,869	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,145,641	V103I	possibly damaging	Het
9230102O04Rik	CGG	CG	2: 9,883,264		probably null	Het
Adam19	T	C	11: 46,137,622	V694A	probably benign	Het
Adipor1	A	G	1: 134,424,815	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,722,664	T334A	unknown	Het
Bcl11a	T	C	11: 24,164,582	F642L	probably benign	Het
Camk2d	T	C	3: 126,767,560	Y108H	probably damaging	Het
Catsper1	A	G	19: 5,337,757	T355A	probably benign	Het
Ccdc69	T	A	11: 55,055,030	N50I	possibly damaging	Het
Chd8	A	T	14: 52,219,598	L971Q	probably damaging	Het
Chrna10	C	A	7: 102,113,594	A130S	probably benign	Het
Ciao1	G	A	2: 127,245,764	T217I	probably damaging	Het
Cldn1	A	T	16: 26,363,174	I95N	probably damaging	Het
Cluh	C	T	11: 74,667,946	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,777,999	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,790,471	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,215,354	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,256,844	S596P	probably benign	Het
Dagla	A	T	19: 10,255,689	V448D	probably damaging	Het
Ddx59	A	T	1: 136,416,856	E88D	probably benign	Het
Dnhd1	A	G	7: 105,651,597	I54V	probably benign	Het
Dnttip1	A	C	2: 164,751,242	D95A	probably benign	Het
Efna3	T	C	3: 89,315,511	T207A	probably benign	Het
Eprs	A	C	1: 185,407,698	S995R	probably benign	Het
Eprs	G	A	1: 185,407,699	S995N	probably benign	Het
Erbb2	T	C	11: 98,420,920	V94A	possibly damaging	Het
Etl4	A	T	2: 20,766,534	I607F	possibly damaging	Het
Ets2	G	T	16: 95,715,077	E234*	probably null	Het
Fgf6	A	C	6: 127,015,851	Y89S	probably damaging	Het
Fmn2	C	T	1: 174,608,628	Q722*	probably null	Het
Gatsl2	G	T	5: 134,135,697	V166L	probably benign	Het
Gdpd5	A	G	7: 99,453,824	D330G		Het
Glipr1	A	G	10: 111,996,896	S46P	probably damaging	Het
Gnptab	A	G	10: 88,433,130	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,286,044	V47I	probably benign	Het
Heatr5b	T	A	17: 78,753,250	K1999*	probably null	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Kif9	G	A	9: 110,517,642	R616H	probably benign	Het
Krt87	G	T	15: 101,438,603	C56*	probably null	Het
Ldlr	A	G	9: 21,735,330	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,737,217	D998V	probably benign	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mmp9	A	G	2: 164,951,226	N432D	probably benign	Het
Mrc1	A	G	2: 14,319,299	N1149S	probably benign	Het
Mta1	A	T	12: 113,131,465	M448L	probably benign	Het
Myo1c	T	A	11: 75,669,073	V661E	probably benign	Het
Ndc1	T	C	4: 107,390,666		probably null	Het
Npy	A	C	6: 49,827,565	T89P	possibly damaging	Het
Olfr1148	T	G	2: 87,833,134	F32V	probably benign	Het
Olfr596	A	G	7: 103,310,245	I175V	probably benign	Het
Olfr671	A	T	7: 104,975,649	M116K	probably damaging	Het
Olfr870	A	G	9: 20,170,797	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427	H398Q	probably damaging	Het
Pepd	A	C	7: 35,043,793	D419A	probably benign	Het
Pikfyve	A	T	1: 65,264,402	S1694C	probably benign	Het
Polq	A	G	16: 37,022,811	I236V	probably benign	Het
Prkag3	T	G	1: 74,747,219	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,140,402	T31S	probably benign	Het
Ralgapb	C	T	2: 158,426,363	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,661,621	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,729,405	V1074M	probably benign	Het
Scfd2	T	C	5: 74,519,574	D306G	probably damaging	Het
Scg2	A	G	1: 79,435,219	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,319,834	N416S	probably damaging	Het
Serpinb6c	T	A	13: 33,897,438	Q76L	probably null	Het
Setd7	G	A	3: 51,542,718	Q96*	probably null	Het
Sf3b4	C	T	3: 96,173,630	R85W	probably damaging	Het
Sik3	T	A	9: 46,208,819	H735Q	probably benign	Het
Slain1	A	C	14: 103,664,676	T60P		Het
Slc36a3	T	C	11: 55,149,900	E69G	unknown	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spta1	A	G	1: 174,208,314	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,937,600	P904L	probably benign	Het
Stat5b	T	A	11: 100,808,450	H25L	possibly damaging	Het
Synj2	A	G	17: 6,013,519	I513V	probably benign	Het
Tenm2	T	C	11: 36,943,964	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,023	G1058R		Het
Traf3ip2	T	A	10: 39,645,776	D443E	probably benign	Het
Traf6	G	T	2: 101,694,280	C235F	probably damaging	Het
Treh	A	G	9: 44,681,119	D47G	probably damaging	Het
Txndc16	A	T	14: 45,205,342	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,234,805		probably null	Het
Usp25	A	T	16: 77,077,158	I541F	probably damaging	Het
Zfp51	A	G	17: 21,464,029	E302G	probably damaging	Het
Zfp648	A	T	1: 154,204,364	T90S	probably benign	Het
Zfp84	A	G	7: 29,776,839	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,487,211	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,205,179	P142T	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
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
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'- TATCTGCTCTGCAACCTGAC -3'
(R):5'- AAGCTGTATCTCTCTGGCTACC -3'

Sequencing Primer
(F):5'- GACCCCACATGACCGTTTTC -3'
(R):5'- GCTGTATCTCTCTGGCTACCTCATAG -3'

Posted On

2022-07-18