Mutagenetix > Incidental Mutation

Incidental Mutation 'R7867:Acaca'

607857

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

045919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7867 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84020498-84292477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84140350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 608 (D608V)

Ref Sequence

ENSEMBL: ENSMUSP00000020843 (fasta)

Gene Model

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

AlphaFold

Q5SWU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020843
AA Change: D608V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: D608V

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

possibly damaging
Transcript: ENSMUST00000103201
AA Change: D608V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: D608V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,212,139 (GRCm39)		probably null	Het
Abcf1	C	A	17: 36,272,890 (GRCm39)	K252N	probably damaging	Het
Abi3	C	T	11: 95,724,851 (GRCm39)	A211T	possibly damaging	Het
Akap10	A	G	11: 61,791,272 (GRCm39)	Y396H	probably damaging	Het
Ap3b1	C	G	13: 94,619,771 (GRCm39)	S778W	unknown	Het
Arb2a	T	C	13: 78,050,837 (GRCm39)	M165T	probably benign	Het
Baat	G	A	4: 49,502,925 (GRCm39)	L66F	probably benign	Het
Cachd1	A	G	4: 100,845,759 (GRCm39)	N981S	probably damaging	Het
Cacna1c	C	T	6: 118,753,407 (GRCm39)	R243H		Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cinp	A	G	12: 110,840,557 (GRCm39)	V198A	probably benign	Het
Clec4d	T	C	6: 123,244,123 (GRCm39)		probably null	Het
Cnn3	A	G	3: 121,248,704 (GRCm39)	I204V	probably benign	Het
Cpxm2	C	A	7: 131,650,800 (GRCm39)	G620V	probably damaging	Het
Ctrl	A	C	8: 106,659,497 (GRCm39)	S93A	probably benign	Het
Cyp2d34	A	G	15: 82,501,425 (GRCm39)	V301A	possibly damaging	Het
Dnaaf5	G	T	5: 139,147,565 (GRCm39)	K376N	probably damaging	Het
Eno2	C	T	6: 124,740,137 (GRCm39)	D300N	probably damaging	Het
Entrep3	T	A	3: 89,093,083 (GRCm39)	Y280*	probably null	Het
Fam117b	T	A	1: 60,014,046 (GRCm39)	N440K	probably damaging	Het
Fam131a	A	G	16: 20,514,584 (GRCm39)	S62G	probably benign	Het
Fancm	T	A	12: 65,163,240 (GRCm39)		probably null	Het
Fancm	A	G	12: 65,165,173 (GRCm39)	D1506G	probably benign	Het
Fhad1	C	A	4: 141,632,902 (GRCm39)	V1201L	probably benign	Het
Gdpd4	T	A	7: 97,623,185 (GRCm39)	C265*	probably null	Het
Gm3127	A	T	14: 15,425,888 (GRCm39)	T98S	probably null	Het
Gpsm1	A	T	2: 26,230,448 (GRCm39)	D466V	probably benign	Het
Gramd1a	T	G	7: 30,842,992 (GRCm39)	K76Q	probably damaging	Het
Gstp3	T	C	19: 4,108,808 (GRCm39)	D24G	probably damaging	Het
Kalrn	G	A	16: 33,810,161 (GRCm39)	T2531I	possibly damaging	Het
Klk7	C	A	7: 43,462,333 (GRCm39)	D108E	probably damaging	Het
Klkb1	A	G	8: 45,740,002 (GRCm39)	S97P	probably damaging	Het
Krt13	T	C	11: 100,012,008 (GRCm39)	D105G	probably damaging	Het
Lingo2	T	A	4: 35,709,302 (GRCm39)	H226L	probably benign	Het
Lrba	T	C	3: 86,275,896 (GRCm39)	S1755P	probably damaging	Het
Marf1	A	G	16: 13,946,470 (GRCm39)	V1217A	probably damaging	Het
Mtss1	A	T	15: 58,842,858 (GRCm39)	V118E	possibly damaging	Het
Mug1	T	A	6: 121,850,593 (GRCm39)	D696E	probably benign	Het
Ndufa3	C	T	7: 3,623,003 (GRCm39)	P56L	probably damaging	Het
Nop56	T	A	2: 130,120,205 (GRCm39)	C471S	possibly damaging	Het
Obscn	T	A	11: 58,891,652 (GRCm39)	H6960L	unknown	Het
Or13a22	C	T	7: 140,073,049 (GRCm39)	T166I	probably benign	Het
Pcdhb10	A	C	18: 37,546,619 (GRCm39)	Q565P	probably benign	Het
Pde6g	T	A	11: 120,338,953 (GRCm39)	H79L	possibly damaging	Het
Phrf1	G	T	7: 140,836,524 (GRCm39)	M265I	unknown	Het
Pkd2	T	C	5: 104,630,986 (GRCm39)	F470S	probably damaging	Het
Plekhm1	T	A	11: 103,271,153 (GRCm39)	D446V	probably damaging	Het
Prkaca	A	T	8: 84,721,963 (GRCm39)	T325S	probably benign	Het
Proz	A	T	8: 13,111,027 (GRCm39)		probably benign	Het
Pten	T	C	19: 32,792,894 (GRCm39)	F238L	probably benign	Het
Ptpn21	G	A	12: 98,671,435 (GRCm39)	L198F	probably damaging	Het
Rbm5	A	T	9: 107,628,930 (GRCm39)	S394T	probably benign	Het
Scaf8	T	G	17: 3,227,994 (GRCm39)	S408A	unknown	Het
Slc41a3	T	A	6: 90,617,909 (GRCm39)	F312I	probably damaging	Het
Soat2	T	A	15: 102,059,598 (GRCm39)		probably null	Het
Sorcs1	C	A	19: 50,218,698 (GRCm39)	G595*	probably null	Het
Spopfm1	G	C	3: 94,173,154 (GRCm39)	S50T	probably benign	Het
Stox1	G	T	10: 62,500,723 (GRCm39)	D612E	probably benign	Het
Suco	T	C	1: 161,665,365 (GRCm39)	I530M	possibly damaging	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Thbd	G	A	2: 148,249,664 (GRCm39)	A68V	probably damaging	Het
Tmem109	A	T	19: 10,855,466 (GRCm39)	M4K	unknown	Het
Tmub1	G	C	5: 24,651,664 (GRCm39)	P85R	possibly damaging	Het
Tnk2	A	C	16: 32,500,053 (GRCm39)	Q1039H	probably damaging	Het
Tpm3	T	C	3: 89,993,775 (GRCm39)	L89S	probably damaging	Het
Unc13b	C	T	4: 43,232,573 (GRCm39)	R432*	probably null	Het
Vmn2r59	T	A	7: 41,661,707 (GRCm39)	I703F	probably damaging	Het
Xylt1	T	A	7: 117,074,749 (GRCm39)	I122N	probably benign	Het
Zc3h12c	T	C	9: 52,055,248 (GRCm39)	E187G	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
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
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
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'- TGTGAAAACGAGCAGACTTACG -3'
(R):5'- GTGCTAAAACCAATCTGAATCCTAG -3'

Sequencing Primer
(F):5'- CTGTCCTTCTGCTAAGACTCAAAAAG -3'
(R):5'- GATTTTTCCAGGTAATAAGGAGCC -3'

Posted On

2019-12-20