Mutagenetix > Incidental Mutation

Incidental Mutation 'R6807:Acaca'

533616

Institutional Source

Beutler Lab

Gene Symbol

Acaca

Ensembl Gene

ENSMUSG00000020532

Gene Name

acetyl-Coenzyme A carboxylase alpha

Synonyms

Acc1, LOC327983, Acac, acetyl-CoA carboxylase, A530025K05Rik

MMRRC Submission

044920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84020498-84292477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84282356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2158 (T2158A)

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: T2158A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: T2158A

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: T2158A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: T2158A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.9%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apol7a	T	C	15: 77,277,520 (GRCm39)		probably null	Het
Bicdl1	C	T	5: 115,810,202 (GRCm39)		probably null	Het
Bop1	T	A	15: 76,339,183 (GRCm39)	Q362L	probably damaging	Het
C4b	T	C	17: 34,949,930 (GRCm39)	D1418G	probably benign	Het
Cdh23	A	G	10: 60,214,650 (GRCm39)	V1455A	possibly damaging	Het
Cecr2	T	G	6: 120,711,503 (GRCm39)		probably null	Het
Cer1	T	C	4: 82,801,052 (GRCm39)	S204G	probably benign	Het
Cers3	G	C	7: 66,413,968 (GRCm39)	W15C	probably damaging	Het
Csn1s2a	A	T	5: 87,929,731 (GRCm39)	H110L	probably benign	Het
Dnah10	T	G	5: 124,867,064 (GRCm39)		probably null	Het
Dync2h1	T	C	9: 7,041,718 (GRCm39)	N3315S	probably benign	Het
Dynlrb2	T	C	8: 117,234,299 (GRCm39)	M21T	probably benign	Het
Emilin1	T	A	5: 31,072,871 (GRCm39)	F103I	probably benign	Het
Esrra	T	A	19: 6,889,142 (GRCm39)	M416L	probably benign	Het
Etaa1	C	A	11: 17,902,680 (GRCm39)	V86L	probably benign	Het
Extl3	A	G	14: 65,314,211 (GRCm39)	S324P	probably damaging	Het
Fam90a1a	T	C	8: 22,453,368 (GRCm39)	V241A	probably benign	Het
Fat4	C	A	3: 39,036,589 (GRCm39)	Q3414K	probably benign	Het
Gpr162	C	T	6: 124,838,164 (GRCm39)	R162H	probably damaging	Het
Gpr21	T	A	2: 37,407,974 (GRCm39)	Y173*	probably null	Het
Gprc6a	G	A	10: 51,502,841 (GRCm39)	Q341*	probably null	Het
Herc2	T	A	7: 55,814,670 (GRCm39)	S2674R	probably damaging	Het
Hnrnpdl	A	T	5: 100,186,995 (GRCm39)	H9Q	probably null	Het
Hps1	A	G	19: 42,759,217 (GRCm39)	V125A	possibly damaging	Het
Iba57	G	T	11: 59,049,440 (GRCm39)	P243H	probably damaging	Het
Incenp	G	T	19: 9,855,120 (GRCm39)	A597E	unknown	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Klb	G	A	5: 65,536,877 (GRCm39)	V736M	probably damaging	Het
Krt33a	T	A	11: 99,903,209 (GRCm39)	T278S	possibly damaging	Het
Krt73	T	G	15: 101,704,842 (GRCm39)	E348A	probably damaging	Het
Lig3	T	A	11: 82,674,577 (GRCm39)	D134E	probably benign	Het
Limd2	T	C	11: 106,049,771 (GRCm39)	T73A	probably benign	Het
Lrpprc	A	G	17: 85,056,531 (GRCm39)	S787P	possibly damaging	Het
Macf1	A	G	4: 123,268,208 (GRCm39)	M6735T	probably damaging	Het
Mapkbp1	C	A	2: 119,851,640 (GRCm39)	Q861K	probably damaging	Het
Mc4r	T	A	18: 66,992,927 (GRCm39)	N62I	probably damaging	Het
Metap1d	G	A	2: 71,341,858 (GRCm39)	V151I	probably damaging	Het
Nek2	T	C	1: 191,554,729 (GRCm39)	V147A	probably damaging	Het
Nlrp1b	A	T	11: 71,108,530 (GRCm39)	W324R	probably damaging	Het
Nol4l	G	T	2: 153,325,746 (GRCm39)	S113*	probably null	Het
Oc90	T	A	15: 65,761,463 (GRCm39)	D185V	probably damaging	Het
Or2a52	T	C	6: 43,144,172 (GRCm39)	F60S	probably damaging	Het
Or2v1	G	A	11: 49,025,805 (GRCm39)	R262K	probably damaging	Het
Or4a71	G	A	2: 89,357,932 (GRCm39)	T274M	probably damaging	Het
Or5m13	A	T	2: 85,748,382 (GRCm39)	T38S	possibly damaging	Het
Or5p51	T	A	7: 107,444,797 (GRCm39)	T48S	possibly damaging	Het
Or8g50	A	T	9: 39,648,914 (GRCm39)	K268*	probably null	Het
Pcdha8	A	G	18: 37,127,401 (GRCm39)	T628A	probably damaging	Het
Pcsk5	A	T	19: 17,549,986 (GRCm39)		probably null	Het
Pdgfrb	T	C	18: 61,211,721 (GRCm39)		probably null	Het
Pgm3	A	T	9: 86,438,555 (GRCm39)		probably null	Het
Pin1rt1	T	A	2: 104,545,063 (GRCm39)	Y23F	probably benign	Het
Poli	T	A	18: 70,663,222 (GRCm39)		probably null	Het
Pom121	C	A	5: 135,409,978 (GRCm39)		probably benign	Het
Ppp2r5c	A	G	12: 110,535,456 (GRCm39)	D407G	possibly damaging	Het
Pramel28	A	G	4: 143,691,581 (GRCm39)	S381P	probably damaging	Het
Rgs12	A	G	5: 35,180,515 (GRCm39)	D116G	probably null	Het
Serpina3b	A	T	12: 104,099,251 (GRCm39)	E255D	probably benign	Het
Sft2d1rt	T	C	11: 45,942,859 (GRCm39)	Q88R	probably damaging	Het
Slc46a1	A	G	11: 78,357,790 (GRCm39)	H281R	probably damaging	Het
Spata6	T	C	4: 111,642,012 (GRCm39)	I294T	probably benign	Het
Srgap1	T	A	10: 121,664,631 (GRCm39)		probably null	Het
Stag1	C	T	9: 100,826,903 (GRCm39)	R957C	probably damaging	Het
Stk35	G	A	2: 129,643,573 (GRCm39)	E186K	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,544,478 (GRCm39)	V2165I	probably damaging	Het
Tmem53	T	C	4: 117,125,528 (GRCm39)	S207P	probably benign	Het
Ugt2a3	A	G	5: 87,484,617 (GRCm39)	F136L	probably benign	Het
Unc13d	T	C	11: 115,957,577 (GRCm39)	K795E	probably damaging	Het
Zbtb11	C	A	16: 55,810,865 (GRCm39)	T341K	probably benign	Het

Other mutations in Acaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Acaca	APN	11	84,169,743 (GRCm39)	missense	probably damaging	1.00
IGL01134:Acaca	APN	11	84,142,105 (GRCm39)	missense	probably benign	0.22
IGL01446:Acaca	APN	11	84,151,457 (GRCm39)	missense	probably damaging	1.00
IGL01591:Acaca	APN	11	84,134,146 (GRCm39)	missense	probably damaging	1.00
IGL01663:Acaca	APN	11	84,168,628 (GRCm39)	missense	possibly damaging	0.85
IGL01767:Acaca	APN	11	84,211,368 (GRCm39)	missense	probably benign	0.01
IGL02206:Acaca	APN	11	84,151,573 (GRCm39)	nonsense	probably null
IGL02335:Acaca	APN	11	84,105,084 (GRCm39)	missense	possibly damaging	0.84
IGL02477:Acaca	APN	11	84,197,994 (GRCm39)	splice site	probably benign
IGL02515:Acaca	APN	11	84,153,229 (GRCm39)	missense	probably benign
IGL02651:Acaca	APN	11	84,136,030 (GRCm39)	splice site	probably benign
IGL02805:Acaca	APN	11	84,113,959 (GRCm39)	splice site	probably benign
IGL03328:Acaca	APN	11	84,211,355 (GRCm39)	missense	probably benign	0.00
effervescence	UTSW	11	84,153,300 (GRCm39)	missense	probably benign	0.41
fizz	UTSW	11	84,136,682 (GRCm39)	missense	probably damaging	0.98
greenhouse	UTSW	11	84,229,182 (GRCm39)	missense	probably damaging	1.00
Serene	UTSW	11	84,202,235 (GRCm39)	splice site	probably null
Tranquil	UTSW	11	84,171,287 (GRCm39)	missense	probably damaging	1.00
vitamin	UTSW	11	84,171,261 (GRCm39)	missense	possibly damaging	0.78
ANU05:Acaca	UTSW	11	84,206,678 (GRCm39)	missense	probably damaging	1.00
R0385:Acaca	UTSW	11	84,122,574 (GRCm39)	missense	probably benign	0.01
R0518:Acaca	UTSW	11	84,181,112 (GRCm39)	critical splice acceptor site	probably null
R0536:Acaca	UTSW	11	84,171,342 (GRCm39)	splice site	probably benign
R0962:Acaca	UTSW	11	84,202,129 (GRCm39)	missense	probably damaging	1.00
R0968:Acaca	UTSW	11	84,129,859 (GRCm39)	nonsense	probably null
R1123:Acaca	UTSW	11	84,154,906 (GRCm39)	missense	probably benign	0.09
R1452:Acaca	UTSW	11	84,185,885 (GRCm39)	splice site	probably benign
R1478:Acaca	UTSW	11	84,263,453 (GRCm39)	missense	probably damaging	1.00
R1500:Acaca	UTSW	11	84,184,810 (GRCm39)	missense	probably benign	0.00
R1512:Acaca	UTSW	11	84,086,295 (GRCm39)	missense	probably benign	0.00
R1657:Acaca	UTSW	11	84,154,910 (GRCm39)	missense	probably benign	0.09
R1681:Acaca	UTSW	11	84,117,011 (GRCm39)	missense	probably damaging	1.00
R1682:Acaca	UTSW	11	84,283,043 (GRCm39)	missense	probably benign	0.23
R1688:Acaca	UTSW	11	84,129,722 (GRCm39)	missense	probably damaging	1.00
R1755:Acaca	UTSW	11	84,167,390 (GRCm39)	frame shift	probably null
R1775:Acaca	UTSW	11	84,191,248 (GRCm39)	missense	possibly damaging	0.56
R1793:Acaca	UTSW	11	84,229,219 (GRCm39)	missense	probably damaging	1.00
R1793:Acaca	UTSW	11	84,206,795 (GRCm39)	missense	probably damaging	0.98
R1855:Acaca	UTSW	11	84,262,380 (GRCm39)	missense	probably damaging	0.96
R1881:Acaca	UTSW	11	84,191,297 (GRCm39)	splice site	probably benign
R1881:Acaca	UTSW	11	84,161,213 (GRCm39)	nonsense	probably null
R1989:Acaca	UTSW	11	84,153,355 (GRCm39)	missense	probably damaging	0.98
R2147:Acaca	UTSW	11	84,167,362 (GRCm39)	missense	probably benign	0.03
R2215:Acaca	UTSW	11	84,254,619 (GRCm39)	missense	probably damaging	1.00
R2238:Acaca	UTSW	11	84,282,331 (GRCm39)	splice site	probably benign
R2252:Acaca	UTSW	11	84,262,358 (GRCm39)	missense	probably damaging	0.99
R2316:Acaca	UTSW	11	84,185,809 (GRCm39)	missense	possibly damaging	0.69
R2316:Acaca	UTSW	11	84,154,906 (GRCm39)	missense	probably benign	0.16
R2337:Acaca	UTSW	11	84,148,023 (GRCm39)	missense	possibly damaging	0.93
R2697:Acaca	UTSW	11	84,255,239 (GRCm39)	missense	probably damaging	1.00
R3551:Acaca	UTSW	11	84,152,450 (GRCm39)	missense	probably damaging	1.00
R3552:Acaca	UTSW	11	84,152,450 (GRCm39)	missense	probably damaging	1.00
R3748:Acaca	UTSW	11	84,202,235 (GRCm39)	splice site	probably null
R3844:Acaca	UTSW	11	84,255,239 (GRCm39)	missense	probably damaging	1.00
R3873:Acaca	UTSW	11	84,203,547 (GRCm39)	unclassified	probably benign
R4152:Acaca	UTSW	11	84,183,752 (GRCm39)	missense	possibly damaging	0.88
R4406:Acaca	UTSW	11	84,171,275 (GRCm39)	missense	probably benign	0.35
R4448:Acaca	UTSW	11	84,153,318 (GRCm39)	missense	probably damaging	1.00
R4642:Acaca	UTSW	11	84,171,287 (GRCm39)	missense	probably damaging	1.00
R4696:Acaca	UTSW	11	84,171,261 (GRCm39)	missense	possibly damaging	0.78
R4707:Acaca	UTSW	11	84,203,680 (GRCm39)	missense	probably damaging	0.96
R4710:Acaca	UTSW	11	84,283,163 (GRCm39)	missense	possibly damaging	0.84
R4775:Acaca	UTSW	11	84,134,165 (GRCm39)	missense	probably damaging	1.00
R4821:Acaca	UTSW	11	84,185,813 (GRCm39)	missense	possibly damaging	0.69
R4883:Acaca	UTSW	11	84,142,116 (GRCm39)	missense	probably benign	0.01
R4988:Acaca	UTSW	11	84,154,121 (GRCm39)	missense	probably damaging	1.00
R5034:Acaca	UTSW	11	84,136,090 (GRCm39)	missense	probably benign	0.00
R5255:Acaca	UTSW	11	84,202,133 (GRCm39)	missense	probably damaging	1.00
R5294:Acaca	UTSW	11	84,282,345 (GRCm39)	missense	probably benign	0.01
R5350:Acaca	UTSW	11	84,106,699 (GRCm39)	missense	probably damaging	0.99
R5437:Acaca	UTSW	11	84,237,646 (GRCm39)	splice site	probably null
R5664:Acaca	UTSW	11	84,134,210 (GRCm39)	missense	probably damaging	1.00
R5665:Acaca	UTSW	11	84,136,120 (GRCm39)	nonsense	probably null
R5959:Acaca	UTSW	11	84,106,792 (GRCm39)	missense	probably damaging	1.00
R6011:Acaca	UTSW	11	84,136,570 (GRCm39)	missense	probably benign	0.44
R6027:Acaca	UTSW	11	84,289,003 (GRCm39)	missense	probably benign
R6246:Acaca	UTSW	11	84,206,796 (GRCm39)	missense	probably benign	0.08
R6313:Acaca	UTSW	11	84,183,755 (GRCm39)	missense	probably benign	0.00
R6450:Acaca	UTSW	11	84,171,294 (GRCm39)	missense	probably damaging	0.98
R6623:Acaca	UTSW	11	84,262,325 (GRCm39)	critical splice acceptor site	probably null
R6736:Acaca	UTSW	11	84,129,664 (GRCm39)	missense	probably benign	0.05
R6752:Acaca	UTSW	11	84,086,309 (GRCm39)	missense	probably benign	0.44
R6826:Acaca	UTSW	11	84,086,362 (GRCm39)	missense	probably damaging	1.00
R7035:Acaca	UTSW	11	84,129,769 (GRCm39)	missense	probably damaging	1.00
R7078:Acaca	UTSW	11	84,154,138 (GRCm39)	missense	possibly damaging	0.91
R7088:Acaca	UTSW	11	84,169,783 (GRCm39)	critical splice donor site	probably null
R7201:Acaca	UTSW	11	84,153,300 (GRCm39)	missense	probably benign	0.41
R7261:Acaca	UTSW	11	84,259,526 (GRCm39)	missense	probably damaging	1.00
R7399:Acaca	UTSW	11	84,151,505 (GRCm39)	missense	possibly damaging	0.89
R7421:Acaca	UTSW	11	84,254,562 (GRCm39)	missense	possibly damaging	0.64
R7443:Acaca	UTSW	11	84,206,619 (GRCm39)	missense	probably benign	0.02
R7453:Acaca	UTSW	11	84,136,136 (GRCm39)	missense	probably benign
R7471:Acaca	UTSW	11	84,168,608 (GRCm39)	splice site	probably null
R7519:Acaca	UTSW	11	84,136,682 (GRCm39)	missense	probably damaging	0.98
R7537:Acaca	UTSW	11	84,151,460 (GRCm39)	missense	probably damaging	1.00
R7574:Acaca	UTSW	11	84,152,414 (GRCm39)	missense	probably benign
R7633:Acaca	UTSW	11	84,263,465 (GRCm39)	missense	probably benign	0.26
R7643:Acaca	UTSW	11	84,229,182 (GRCm39)	missense	probably damaging	1.00
R7664:Acaca	UTSW	11	84,136,175 (GRCm39)	missense	probably damaging	1.00
R7675:Acaca	UTSW	11	84,206,742 (GRCm39)	missense	probably benign	0.04
R7676:Acaca	UTSW	11	84,185,813 (GRCm39)	missense	possibly damaging	0.69
R7729:Acaca	UTSW	11	84,262,339 (GRCm39)	missense	probably damaging	0.98
R7867:Acaca	UTSW	11	84,140,350 (GRCm39)	missense	possibly damaging	0.88
R7898:Acaca	UTSW	11	84,255,275 (GRCm39)	critical splice donor site	probably null
R7909:Acaca	UTSW	11	84,136,061 (GRCm39)	missense	possibly damaging	0.56
R7915:Acaca	UTSW	11	84,167,414 (GRCm39)	missense	probably benign
R7956:Acaca	UTSW	11	84,211,406 (GRCm39)	missense	probably damaging	0.98
R8000:Acaca	UTSW	11	84,283,057 (GRCm39)	missense	possibly damaging	0.88
R8038:Acaca	UTSW	11	84,106,730 (GRCm39)	missense	probably damaging	1.00
R8545:Acaca	UTSW	11	84,236,794 (GRCm39)	missense	probably damaging	1.00
R8722:Acaca	UTSW	11	84,229,283 (GRCm39)	missense	possibly damaging	0.85
R9005:Acaca	UTSW	11	84,262,410 (GRCm39)	missense	probably damaging	0.99
R9130:Acaca	UTSW	11	84,202,145 (GRCm39)	missense	probably damaging	1.00
R9397:Acaca	UTSW	11	84,259,551 (GRCm39)	missense	probably damaging	1.00
R9489:Acaca	UTSW	11	84,183,842 (GRCm39)	missense	probably benign	0.01
R9540:Acaca	UTSW	11	84,134,237 (GRCm39)	missense	probably damaging	1.00
R9593:Acaca	UTSW	11	84,271,339 (GRCm39)	nonsense	probably null
R9605:Acaca	UTSW	11	84,183,842 (GRCm39)	missense	probably benign	0.01
R9634:Acaca	UTSW	11	84,184,816 (GRCm39)	missense	probably benign	0.00
R9720:Acaca	UTSW	11	84,154,183 (GRCm39)	missense	probably damaging	1.00
RF014:Acaca	UTSW	11	84,122,550 (GRCm39)	missense	probably benign	0.01
X0027:Acaca	UTSW	11	84,183,721 (GRCm39)	missense	probably benign	0.01
X0060:Acaca	UTSW	11	84,154,930 (GRCm39)	missense	probably benign
X0067:Acaca	UTSW	11	84,259,563 (GRCm39)	nonsense	probably null
Z1176:Acaca	UTSW	11	84,151,546 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTGTGACAAAGTAAGGAC -3'
(R):5'- TAAACCGTGCTGATCTGGCC -3'

Sequencing Primer
(F):5'- GACAGGACTATCATCTCAGAGTCTG -3'
(R):5'- GTGCGCCTATGTCACTTACAAGG -3'

Posted On

2018-09-12