Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Acaca'

153356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acaca

Ensembl Gene

ENSMUSG00000020532

Gene Name

acetyl-Coenzyme A carboxylase alpha

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84320542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1560 (Y1560F)

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: Y1560F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: Y1560F

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: Y1560F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: Y1560F

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

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,507,092 (GRCm38)	D31V	probably damaging	Het
Actl7a	A	G	4: 56,743,980 (GRCm38)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,559,814 (GRCm38)	V270A	probably benign	Het
Adgre4	G	A	17: 55,797,740 (GRCm38)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,648,374 (GRCm38)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,041,363 (GRCm38)	V4505A	probably benign	Het
Bnip2	T	A	9: 70,002,116 (GRCm38)		probably benign	Het
Casp16	A	G	17: 23,552,053 (GRCm38)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,718,152 (GRCm38)	T157K	probably benign	Het
Cdh23	A	G	10: 60,315,724 (GRCm38)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465 (GRCm38)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,916,986 (GRCm38)	E72K	probably benign	Het
Cldn23	T	C	8: 35,825,662 (GRCm38)	Y224C	probably damaging	Het
Cry1	C	T	10: 85,146,474 (GRCm38)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,506,982 (GRCm38)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,278,336 (GRCm38)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,468,868 (GRCm38)		probably benign	Het
Dnah10	C	T	5: 124,743,737 (GRCm38)		probably benign	Het
Dock9	T	C	14: 121,622,870 (GRCm38)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,654,936 (GRCm38)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,246,710 (GRCm38)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,384,915 (GRCm38)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,390,421 (GRCm38)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,367,750 (GRCm38)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,939,201 (GRCm38)	T449I	probably benign	Het
Gm43638	T	C	5: 87,465,431 (GRCm38)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,420,564 (GRCm38)		noncoding transcript	Het
Gm8122	T	C	14: 43,232,701 (GRCm38)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,157,635 (GRCm38)	N923Y	probably benign	Het
Il17a	T	A	1: 20,733,640 (GRCm38)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,430,575 (GRCm38)	N330K	probably benign	Het
Kcnj11	T	C	7: 46,099,065 (GRCm38)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,619,176 (GRCm38)	Y272*	probably null	Het
Kndc1	A	T	7: 139,930,046 (GRCm38)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,286,424 (GRCm38)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,491,545 (GRCm38)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,547,272 (GRCm38)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,750,315 (GRCm38)	L270P	probably damaging	Het
Med13	A	T	11: 86,319,783 (GRCm38)	I511N	probably benign	Het
Myo3a	A	T	2: 22,423,222 (GRCm38)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,603,032 (GRCm38)	F151I	probably benign	Het
Or2n1	G	T	17: 38,175,686 (GRCm38)	V201L	probably benign	Het
Or4a68	C	T	2: 89,439,800 (GRCm38)	V160I	probably benign	Het
Or5b97	T	A	19: 12,901,748 (GRCm38)	T11S	probably benign	Het
Or7g27	G	A	9: 19,339,302 (GRCm38)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,237,678 (GRCm38)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,118,055 (GRCm38)	Y127*	probably null	Het
Psg18	A	G	7: 18,353,397 (GRCm38)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,469,574 (GRCm38)	N108K	probably benign	Het
Rictor	A	G	15: 6,777,384 (GRCm38)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,395,639 (GRCm38)	F93S	probably benign	Het
Rxrg	T	A	1: 167,627,315 (GRCm38)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,223,687 (GRCm38)		probably benign	Het
Slc25a27	C	T	17: 43,664,073 (GRCm38)		probably null	Het
Slx4	T	C	16: 3,990,248 (GRCm38)	K481E	probably benign	Het
Snx19	T	C	9: 30,463,264 (GRCm38)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,266,484 (GRCm38)	D262E	probably benign	Het
Tasor2	G	A	13: 3,576,633 (GRCm38)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,856,008 (GRCm38)	P414L	probably damaging	Het
Treml2	T	C	17: 48,302,810 (GRCm38)	V90A	probably benign	Het
Uckl1	C	T	2: 181,569,534 (GRCm38)	V501M	probably damaging	Het
Unc79	C	T	12: 103,141,997 (GRCm38)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,420,037 (GRCm38)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,380,238 (GRCm38)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,954,435 (GRCm38)	D607G	probably benign	Het
Vps13a	C	T	19: 16,663,894 (GRCm38)	G2288D	probably damaging	Het
Znfx1	G	T	2: 167,055,723 (GRCm38)	T427N	probably 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
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
R5294:Acaca	UTSW	11	84,391,519 (GRCm38)	missense	probably benign	0.01
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

Posted On

2014-02-04