Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Acaca'

405320

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

042877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84391519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2154 (E2154G)

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: E2154G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: E2154G

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: E2154G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: E2154G

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

0.0984

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,152,003 (GRCm38)		noncoding transcript	Het
Acacb	T	C	5: 114,241,952 (GRCm38)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,811,157 (GRCm38)		probably benign	Het
Amn1	T	A	6: 149,185,124 (GRCm38)		probably benign	Het
Arid1a	C	A	4: 133,691,055 (GRCm38)		probably benign	Het
Aste1	T	A	9: 105,402,705 (GRCm38)		probably null	Het
Asxl3	T	A	18: 22,516,439 (GRCm38)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,988,048 (GRCm38)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,628,766 (GRCm38)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,978,602 (GRCm38)	H101R	probably benign	Het
Bicc1	G	A	10: 70,947,900 (GRCm38)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,878,981 (GRCm38)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,610,440 (GRCm38)	E523G	probably benign	Het
Cops6	G	C	5: 138,161,116 (GRCm38)		probably benign	Het
Cp	G	C	3: 19,966,316 (GRCm38)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,873,483 (GRCm38)	M52K	possibly damaging	Het
Dars	A	T	1: 128,364,302 (GRCm38)	F480I	probably benign	Het
Diaph1	T	C	18: 37,897,580 (GRCm38)	M274V	unknown	Het
Diaph1	C	A	18: 37,897,550 (GRCm38)	E284*	probably null	Het
Dock8	G	A	19: 25,061,153 (GRCm38)	V68M	probably benign	Het
Elavl4	A	G	4: 110,211,430 (GRCm38)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,496,439 (GRCm38)		probably benign	Het
Fbxw16	T	C	9: 109,436,644 (GRCm38)	D369G	probably benign	Het
Fgr	A	T	4: 132,997,500 (GRCm38)	D304V	probably benign	Het
Filip1l	G	A	16: 57,570,036 (GRCm38)	S91N	possibly damaging	Het
Gm884	A	G	11: 103,616,231 (GRCm38)		probably benign	Het
Haus8	A	G	8: 71,255,710 (GRCm38)	S103P	unknown	Het
Hscb	A	G	5: 110,834,792 (GRCm38)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 105,523,297 (GRCm38)	M347L	probably benign	Het
Jrk	C	A	15: 74,707,336 (GRCm38)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,121,832 (GRCm38)	Y123*	probably null	Het
Mis18bp1	A	C	12: 65,157,043 (GRCm38)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,409,873 (GRCm38)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,427,794 (GRCm38)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,400,800 (GRCm38)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,517,506 (GRCm38)		probably null	Het
Olfr248	A	T	1: 174,391,225 (GRCm38)	Y52F	probably benign	Het
Olfr692	C	T	7: 105,368,413 (GRCm38)	T20I	probably benign	Het
Olfr748	A	G	14: 50,710,779 (GRCm38)	I150V	probably benign	Het
Olfr748	A	G	14: 50,710,443 (GRCm38)	T38A	possibly damaging	Het
Otud4	A	T	8: 79,672,892 (GRCm38)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,115,568 (GRCm38)	I166N	possibly damaging	Het
Pak2	T	A	16: 32,021,830 (GRCm38)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,639,000 (GRCm38)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,728,111 (GRCm38)		probably null	Het
Peg3	C	A	7: 6,717,849 (GRCm38)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,668,893 (GRCm38)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,478,668 (GRCm38)	F1737L	probably benign	Het
Rex2	A	C	4: 147,057,985 (GRCm38)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003 (GRCm38)		probably null	Het
Rnf39	C	T	17: 36,947,200 (GRCm38)	A86V	probably damaging	Het
Ror1	A	T	4: 100,425,938 (GRCm38)	N400I	probably benign	Het
Slc38a8	C	T	8: 119,494,289 (GRCm38)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,956,310 (GRCm38)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,718,908 (GRCm38)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,008,218 (GRCm38)	F74L	probably benign	Het
Trappc11	G	C	8: 47,530,731 (GRCm38)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,472,488 (GRCm38)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,773,414 (GRCm38)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,777,190 (GRCm38)	V161A	probably benign	Het
Usp24	A	G	4: 106,362,357 (GRCm38)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,651,864 (GRCm38)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,455,113 (GRCm38)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,069,754 (GRCm38)	C517*	probably null	Het
Vps13a	A	T	19: 16,641,667 (GRCm38)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,071,033 (GRCm38)	E283D	probably benign	Het
Xpo5	T	C	17: 46,236,922 (GRCm38)	V896A	probably benign	Het
Zfp2	T	C	11: 50,901,241 (GRCm38)		probably benign	Het
Zgrf1	G	A	3: 127,600,980 (GRCm38)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,979,577 (GRCm38)	D686G	possibly damaging	Het

Other mutations in Acaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Acaca	APN	11	84,278,917 (GRCm38)	missense	probably damaging	1.00
IGL01134:Acaca	APN	11	84,251,279 (GRCm38)	missense	probably benign	0.22
IGL01446:Acaca	APN	11	84,260,631 (GRCm38)	missense	probably damaging	1.00
IGL01591:Acaca	APN	11	84,243,320 (GRCm38)	missense	probably damaging	1.00
IGL01663:Acaca	APN	11	84,277,802 (GRCm38)	missense	possibly damaging	0.85
IGL01767:Acaca	APN	11	84,320,542 (GRCm38)	missense	probably benign	0.01
IGL02206:Acaca	APN	11	84,260,747 (GRCm38)	nonsense	probably null
IGL02335:Acaca	APN	11	84,214,258 (GRCm38)	missense	possibly damaging	0.84
IGL02477:Acaca	APN	11	84,307,168 (GRCm38)	splice site	probably benign
IGL02515:Acaca	APN	11	84,262,403 (GRCm38)	missense	probably benign
IGL02651:Acaca	APN	11	84,245,204 (GRCm38)	splice site	probably benign
IGL02805:Acaca	APN	11	84,223,133 (GRCm38)	splice site	probably benign
IGL03328:Acaca	APN	11	84,320,529 (GRCm38)	missense	probably benign	0.00
effervescence	UTSW	11	84,262,474 (GRCm38)	missense	probably benign	0.41
fizz	UTSW	11	84,245,856 (GRCm38)	missense	probably damaging	0.98
greenhouse	UTSW	11	84,338,356 (GRCm38)	missense	probably damaging	1.00
Serene	UTSW	11	84,311,409 (GRCm38)	splice site	probably null
Tranquil	UTSW	11	84,280,461 (GRCm38)	missense	probably damaging	1.00
vitamin	UTSW	11	84,280,435 (GRCm38)	missense	possibly damaging	0.78
ANU05:Acaca	UTSW	11	84,315,852 (GRCm38)	missense	probably damaging	1.00
R0385:Acaca	UTSW	11	84,231,748 (GRCm38)	missense	probably benign	0.01
R0518:Acaca	UTSW	11	84,290,286 (GRCm38)	critical splice acceptor site	probably null
R0536:Acaca	UTSW	11	84,280,516 (GRCm38)	splice site	probably benign
R0962:Acaca	UTSW	11	84,311,303 (GRCm38)	missense	probably damaging	1.00
R0968:Acaca	UTSW	11	84,239,033 (GRCm38)	nonsense	probably null
R1123:Acaca	UTSW	11	84,264,080 (GRCm38)	missense	probably benign	0.09
R1452:Acaca	UTSW	11	84,295,059 (GRCm38)	splice site	probably benign
R1478:Acaca	UTSW	11	84,372,627 (GRCm38)	missense	probably damaging	1.00
R1500:Acaca	UTSW	11	84,293,984 (GRCm38)	missense	probably benign	0.00
R1512:Acaca	UTSW	11	84,195,469 (GRCm38)	missense	probably benign	0.00
R1657:Acaca	UTSW	11	84,264,084 (GRCm38)	missense	probably benign	0.09
R1681:Acaca	UTSW	11	84,226,185 (GRCm38)	missense	probably damaging	1.00
R1682:Acaca	UTSW	11	84,392,217 (GRCm38)	missense	probably benign	0.23
R1688:Acaca	UTSW	11	84,238,896 (GRCm38)	missense	probably damaging	1.00
R1755:Acaca	UTSW	11	84,276,564 (GRCm38)	frame shift	probably null
R1775:Acaca	UTSW	11	84,300,422 (GRCm38)	missense	possibly damaging	0.56
R1793:Acaca	UTSW	11	84,338,393 (GRCm38)	missense	probably damaging	1.00
R1793:Acaca	UTSW	11	84,315,969 (GRCm38)	missense	probably damaging	0.98
R1855:Acaca	UTSW	11	84,371,554 (GRCm38)	missense	probably damaging	0.96
R1881:Acaca	UTSW	11	84,300,471 (GRCm38)	splice site	probably benign
R1881:Acaca	UTSW	11	84,270,387 (GRCm38)	nonsense	probably null
R1989:Acaca	UTSW	11	84,262,529 (GRCm38)	missense	probably damaging	0.98
R2147:Acaca	UTSW	11	84,276,536 (GRCm38)	missense	probably benign	0.03
R2215:Acaca	UTSW	11	84,363,793 (GRCm38)	missense	probably damaging	1.00
R2238:Acaca	UTSW	11	84,391,505 (GRCm38)	splice site	probably benign
R2252:Acaca	UTSW	11	84,371,532 (GRCm38)	missense	probably damaging	0.99
R2316:Acaca	UTSW	11	84,294,983 (GRCm38)	missense	possibly damaging	0.69
R2316:Acaca	UTSW	11	84,264,080 (GRCm38)	missense	probably benign	0.16
R2337:Acaca	UTSW	11	84,257,197 (GRCm38)	missense	possibly damaging	0.93
R2697:Acaca	UTSW	11	84,364,413 (GRCm38)	missense	probably damaging	1.00
R3551:Acaca	UTSW	11	84,261,624 (GRCm38)	missense	probably damaging	1.00
R3552:Acaca	UTSW	11	84,261,624 (GRCm38)	missense	probably damaging	1.00
R3748:Acaca	UTSW	11	84,311,409 (GRCm38)	splice site	probably null
R3844:Acaca	UTSW	11	84,364,413 (GRCm38)	missense	probably damaging	1.00
R3873:Acaca	UTSW	11	84,312,721 (GRCm38)	unclassified	probably benign
R4152:Acaca	UTSW	11	84,292,926 (GRCm38)	missense	possibly damaging	0.88
R4406:Acaca	UTSW	11	84,280,449 (GRCm38)	missense	probably benign	0.35
R4448:Acaca	UTSW	11	84,262,492 (GRCm38)	missense	probably damaging	1.00
R4642:Acaca	UTSW	11	84,280,461 (GRCm38)	missense	probably damaging	1.00
R4696:Acaca	UTSW	11	84,280,435 (GRCm38)	missense	possibly damaging	0.78
R4707:Acaca	UTSW	11	84,312,854 (GRCm38)	missense	probably damaging	0.96
R4710:Acaca	UTSW	11	84,392,337 (GRCm38)	missense	possibly damaging	0.84
R4775:Acaca	UTSW	11	84,243,339 (GRCm38)	missense	probably damaging	1.00
R4821:Acaca	UTSW	11	84,294,987 (GRCm38)	missense	possibly damaging	0.69
R4883:Acaca	UTSW	11	84,251,290 (GRCm38)	missense	probably benign	0.01
R4988:Acaca	UTSW	11	84,263,295 (GRCm38)	missense	probably damaging	1.00
R5034:Acaca	UTSW	11	84,245,264 (GRCm38)	missense	probably benign	0.00
R5255:Acaca	UTSW	11	84,311,307 (GRCm38)	missense	probably damaging	1.00
R5350:Acaca	UTSW	11	84,215,873 (GRCm38)	missense	probably damaging	0.99
R5437:Acaca	UTSW	11	84,346,820 (GRCm38)	splice site	probably null
R5664:Acaca	UTSW	11	84,243,384 (GRCm38)	missense	probably damaging	1.00
R5665:Acaca	UTSW	11	84,245,294 (GRCm38)	nonsense	probably null
R5959:Acaca	UTSW	11	84,215,966 (GRCm38)	missense	probably damaging	1.00
R6011:Acaca	UTSW	11	84,245,744 (GRCm38)	missense	probably benign	0.44
R6027:Acaca	UTSW	11	84,398,177 (GRCm38)	missense	probably benign
R6246:Acaca	UTSW	11	84,315,970 (GRCm38)	missense	probably benign	0.08
R6313:Acaca	UTSW	11	84,292,929 (GRCm38)	missense	probably benign	0.00
R6450:Acaca	UTSW	11	84,280,468 (GRCm38)	missense	probably damaging	0.98
R6623:Acaca	UTSW	11	84,371,499 (GRCm38)	critical splice acceptor site	probably null
R6736:Acaca	UTSW	11	84,238,838 (GRCm38)	missense	probably benign	0.05
R6752:Acaca	UTSW	11	84,195,483 (GRCm38)	missense	probably benign	0.44
R6807:Acaca	UTSW	11	84,391,530 (GRCm38)	missense	probably benign
R6826:Acaca	UTSW	11	84,195,536 (GRCm38)	missense	probably damaging	1.00
R7035:Acaca	UTSW	11	84,238,943 (GRCm38)	missense	probably damaging	1.00
R7078:Acaca	UTSW	11	84,263,312 (GRCm38)	missense	possibly damaging	0.91
R7088:Acaca	UTSW	11	84,278,957 (GRCm38)	critical splice donor site	probably null
R7201:Acaca	UTSW	11	84,262,474 (GRCm38)	missense	probably benign	0.41
R7261:Acaca	UTSW	11	84,368,700 (GRCm38)	missense	probably damaging	1.00
R7399:Acaca	UTSW	11	84,260,679 (GRCm38)	missense	possibly damaging	0.89
R7421:Acaca	UTSW	11	84,363,736 (GRCm38)	missense	possibly damaging	0.64
R7443:Acaca	UTSW	11	84,315,793 (GRCm38)	missense	probably benign	0.02
R7453:Acaca	UTSW	11	84,245,310 (GRCm38)	missense	probably benign
R7471:Acaca	UTSW	11	84,277,782 (GRCm38)	splice site	probably null
R7519:Acaca	UTSW	11	84,245,856 (GRCm38)	missense	probably damaging	0.98
R7537:Acaca	UTSW	11	84,260,634 (GRCm38)	missense	probably damaging	1.00
R7574:Acaca	UTSW	11	84,261,588 (GRCm38)	missense	probably benign
R7633:Acaca	UTSW	11	84,372,639 (GRCm38)	missense	probably benign	0.26
R7643:Acaca	UTSW	11	84,338,356 (GRCm38)	missense	probably damaging	1.00
R7664:Acaca	UTSW	11	84,245,349 (GRCm38)	missense	probably damaging	1.00
R7675:Acaca	UTSW	11	84,315,916 (GRCm38)	missense	probably benign	0.04
R7676:Acaca	UTSW	11	84,294,987 (GRCm38)	missense	possibly damaging	0.69
R7729:Acaca	UTSW	11	84,371,513 (GRCm38)	missense	probably damaging	0.98
R7867:Acaca	UTSW	11	84,249,524 (GRCm38)	missense	possibly damaging	0.88
R7898:Acaca	UTSW	11	84,364,449 (GRCm38)	critical splice donor site	probably null
R7909:Acaca	UTSW	11	84,245,235 (GRCm38)	missense	possibly damaging	0.56
R7915:Acaca	UTSW	11	84,276,588 (GRCm38)	missense	probably benign
R7956:Acaca	UTSW	11	84,320,580 (GRCm38)	missense	probably damaging	0.98
R8000:Acaca	UTSW	11	84,392,231 (GRCm38)	missense	possibly damaging	0.88
R8038:Acaca	UTSW	11	84,215,904 (GRCm38)	missense	probably damaging	1.00
R8545:Acaca	UTSW	11	84,345,968 (GRCm38)	missense	probably damaging	1.00
R8722:Acaca	UTSW	11	84,338,457 (GRCm38)	missense	possibly damaging	0.85
R9005:Acaca	UTSW	11	84,371,584 (GRCm38)	missense	probably damaging	0.99
R9130:Acaca	UTSW	11	84,311,319 (GRCm38)	missense	probably damaging	1.00
R9397:Acaca	UTSW	11	84,368,725 (GRCm38)	missense	probably damaging	1.00
R9489:Acaca	UTSW	11	84,293,016 (GRCm38)	missense	probably benign	0.01
R9540:Acaca	UTSW	11	84,243,411 (GRCm38)	missense	probably damaging	1.00
R9593:Acaca	UTSW	11	84,380,513 (GRCm38)	nonsense	probably null
R9605:Acaca	UTSW	11	84,293,016 (GRCm38)	missense	probably benign	0.01
R9634:Acaca	UTSW	11	84,293,990 (GRCm38)	missense	probably benign	0.00
R9720:Acaca	UTSW	11	84,263,357 (GRCm38)	missense	probably damaging	1.00
RF014:Acaca	UTSW	11	84,231,724 (GRCm38)	missense	probably benign	0.01
X0027:Acaca	UTSW	11	84,292,895 (GRCm38)	missense	probably benign	0.01
X0060:Acaca	UTSW	11	84,264,104 (GRCm38)	missense	probably benign
X0067:Acaca	UTSW	11	84,368,737 (GRCm38)	nonsense	probably null
Z1176:Acaca	UTSW	11	84,260,720 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGAAGACACGTGGGCTCC -3'
(R):5'- AGCTTGTGCGCCTATGTCAC -3'

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

Posted On

2016-07-22