Mutagenetix > Incidental Mutation

Incidental Mutation 'R5255:Acaca'

399507

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

042826-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84020498-84292477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84202133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 197 (L197Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139378 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000020843
AA Change: L1376Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: L1376Q

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: L1376Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: L1376Q

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 damaging
Transcript: ENSMUST00000183887
AA Change: L197Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532
AA Change: L197Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,629 (GRCm39)		probably null	Het
Abr	T	A	11: 76,346,509 (GRCm39)	E434V	probably damaging	Het
Acot10	A	G	15: 20,666,018 (GRCm39)	I241T	probably benign	Het
Acp6	T	C	3: 97,075,312 (GRCm39)	V182A	probably benign	Het
Ahnak2	G	A	12: 112,739,812 (GRCm39)	T1420I	possibly damaging	Het
Akr1c6	A	T	13: 4,497,018 (GRCm39)	K153N	probably benign	Het
Ank3	T	C	10: 69,721,030 (GRCm39)	L600P	probably damaging	Het
Arhgef1	G	A	7: 24,624,447 (GRCm39)	A824T	probably damaging	Het
B230307C23Rik	T	A	16: 97,809,891 (GRCm39)	N22K	possibly damaging	Het
Btn1a1	A	G	13: 23,648,324 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,404,824 (GRCm39)	T352I	possibly damaging	Het
Ces4a	C	A	8: 105,869,121 (GRCm39)	F185L	probably benign	Het
Clybl	A	C	14: 122,621,691 (GRCm39)	E293A	probably benign	Het
Cobl	A	G	11: 12,325,825 (GRCm39)	W217R	probably damaging	Het
D430041D05Rik	T	C	2: 104,086,945 (GRCm39)	N677S	probably benign	Het
Ddx51	C	A	5: 110,803,908 (GRCm39)	T390N	possibly damaging	Het
Drd5	T	G	5: 38,477,310 (GRCm39)	V101G	probably damaging	Het
Elmo3	C	T	8: 106,033,985 (GRCm39)	P244L	probably benign	Het
Esrrg	G	A	1: 187,878,555 (GRCm39)	R189H	probably damaging	Het
Fxr2	A	G	11: 69,534,667 (GRCm39)	T183A	probably benign	Het
Gjd4	T	C	18: 9,280,613 (GRCm39)	H155R	probably benign	Het
Hivep2	T	A	10: 14,007,011 (GRCm39)		probably null	Het
Ints10	T	C	8: 69,246,624 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,667,209 (GRCm39)	T413A	probably benign	Het
Mapkbp1	T	C	2: 119,847,735 (GRCm39)	V568A	probably damaging	Het
Mobp	A	G	9: 119,997,419 (GRCm39)		probably benign	Het
Mpst	A	G	15: 78,294,708 (GRCm39)	S147G	probably benign	Het
Myo5b	A	T	18: 74,795,741 (GRCm39)	Y559F	possibly damaging	Het
Nceh1	T	C	3: 27,237,288 (GRCm39)	I21T	probably damaging	Het
Or4f7	T	C	2: 111,644,523 (GRCm39)	K183E	probably benign	Het
Phf8-ps	A	T	17: 33,285,739 (GRCm39)	C354*	probably null	Het
Ralgps1	A	T	2: 33,166,171 (GRCm39)	V126E	probably damaging	Het
Rnls	A	G	19: 33,359,823 (GRCm39)	V115A	probably damaging	Het
Scn1a	A	T	2: 66,108,013 (GRCm39)	V1554D	probably damaging	Het
Slc16a11	T	A	11: 70,106,258 (GRCm39)	D165E	probably damaging	Het
Slc16a5	A	G	11: 115,353,501 (GRCm39)	T23A	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc3a1	A	T	17: 85,335,881 (GRCm39)		probably null	Het
Slitrk6	A	T	14: 110,987,185 (GRCm39)	*841K	probably null	Het
Syngr1	A	G	15: 79,975,647 (GRCm39)	Y18C	possibly damaging	Het
Tarbp1	T	G	8: 127,155,709 (GRCm39)	D1343A	probably benign	Het
Vac14	T	A	8: 111,360,961 (GRCm39)	I177N	probably damaging	Het
Vmn1r218	A	T	13: 23,320,881 (GRCm39)	D76V	possibly damaging	Het
Wdr75	T	A	1: 45,838,277 (GRCm39)	I62N	probably damaging	Het
Zfp12	A	T	5: 143,226,134 (GRCm39)	I68L	probably null	Het
Zswim8	T	A	14: 20,771,719 (GRCm39)	Y1551N	probably damaging	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
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
R6807:Acaca	UTSW	11	84,282,356 (GRCm39)	missense	probably benign
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'- AACAAAGGTGTTCGGGCATGTC -3'
(R):5'- TGACCAGATCAGAGTGCCTG -3'

Sequencing Primer
(F):5'- TGAAACAGGGTTTAATCCTCCTACC -3'
(R):5'- TCAGAGTGCCTGATGATCGCAC -3'

Posted On

2016-07-06