Mutagenetix > Incidental Mutations

Incidental Mutation 'R4696:Acaca'

355717

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

041946-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84280435 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1165 (V1165A)

Ref Sequence

ENSEMBL: ENSMUSP00000099490 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020843
AA Change: V1165A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: V1165A

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: V1165A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: V1165A

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 benign
Transcript: ENSMUST00000183887

SMART Domains

Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532

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

Meta Mutation Damage Score

0.45

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

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
1700027J19Rik	G	A	7: 4,151,615	P58L	possibly damaging	Het
Abcc3	T	C	11: 94,350,991	S1405G	probably benign	Het
Acin1	C	A	14: 54,643,017		probably benign	Het
Akr1b8	G	A	6: 34,363,377	V159I	probably benign	Het
Alms1	T	C	6: 85,620,522	Y777H	probably damaging	Het
Cblc	C	A	7: 19,796,482	G101C	probably damaging	Het
Cic	A	G	7: 25,288,483	N1532S	probably benign	Het
Cipc	T	A	12: 86,952,940		probably benign	Het
Clca4b	T	C	3: 144,911,385	I835V	probably benign	Het
Cntrob	C	T	11: 69,320,888	G170D	probably damaging	Het
Col14a1	A	G	15: 55,372,602	Q304R	unknown	Het
Csmd3	T	C	15: 47,913,968	T1181A	probably benign	Het
Dchs1	A	G	7: 105,764,627	F994L	probably damaging	Het
Ddx42	C	A	11: 106,247,703	A776D	probably benign	Het
Ddx58	A	G	4: 40,203,798		probably benign	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dmpk	A	T	7: 19,088,214	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,603,310	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,515,613	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,663,611	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,925,969		probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Eno4	T	C	19: 58,945,636	S90P	probably damaging	Het
Epn2	C	G	11: 61,535,303	A283P	probably damaging	Het
Eya3	T	A	4: 132,670,232	Y67*	probably null	Het
Fat2	T	C	11: 55,285,015	N1624S	probably benign	Het
Fez1	T	A	9: 36,870,470		probably null	Het
Fgfr1	T	C	8: 25,563,488	S260P	probably damaging	Het
Glb1	A	G	9: 114,464,152	S532G	probably benign	Het
Gm15455	A	T	1: 33,837,793		noncoding transcript	Het
Grid2ip	A	G	5: 143,391,376		probably benign	Het
Guca2b	C	A	4: 119,656,799	G129V	probably damaging	Het
Hes3	T	C	4: 152,287,667	E65G	probably damaging	Het
Itgbl1	T	C	14: 123,966,708	C404R	probably damaging	Het
Kansl1	C	T	11: 104,356,767	V586I	possibly damaging	Het
Krt18	A	G	15: 102,031,858	D390G	probably benign	Het
Laptm5	T	C	4: 130,933,671		probably benign	Het
Lgals3bp	C	T	11: 118,398,151	E116K	probably benign	Het
Lrrc39	C	T	3: 116,570,120	S114F	probably damaging	Het
Mfap3	T	C	11: 57,528,291		probably null	Het
Nphp3	A	G	9: 104,022,732	H481R	probably benign	Het
Ntm	T	C	9: 29,179,205	T73A	possibly damaging	Het
Olfr1026	T	A	2: 85,918,871		probably null	Het
Olfr967	T	A	9: 39,750,728	M114K	probably damaging	Het
Pbk	G	A	14: 65,811,937	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,884,946	E74G	probably benign	Het
R3hdm1	G	T	1: 128,236,766		probably benign	Het
Rap1gds1	T	C	3: 138,927,614	T599A	probably damaging	Het
Rims1	A	T	1: 22,288,612	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,303,112	R721*	probably null	Het
Slc17a1	T	C	13: 23,880,717	I388T	probably damaging	Het
Sprn	A	C	7: 140,153,556		probably benign	Het
Tango6	T	C	8: 106,700,231	V459A	possibly damaging	Het
Tert	C	T	13: 73,627,820	T230I	probably benign	Het
Thada	T	C	17: 84,426,186	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trip11	A	T	12: 101,885,290	N838K	possibly damaging	Het
Ttn	A	G	2: 76,767,653	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,408,672	S924T	probably benign	Het
Upb1	A	G	10: 75,415,027	E110G	probably benign	Het
Vegfa	C	T	17: 46,028,346		probably null	Het
Vmn1r231	T	C	17: 20,890,639	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,339,302	I130F	probably benign	Het
Wscd2	T	A	5: 113,551,179	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612	T193A	probably benign	Het
Zfp467	A	G	6: 48,439,357		probably benign	Het
Zfp619	T	C	7: 39,536,988	L814P	probably benign	Het

Other mutations in Acaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Acaca	APN	11	84278917	missense	probably damaging	1.00
IGL01134:Acaca	APN	11	84251279	missense	probably benign	0.22
IGL01446:Acaca	APN	11	84260631	missense	probably damaging	1.00
IGL01591:Acaca	APN	11	84243320	missense	probably damaging	1.00
IGL01663:Acaca	APN	11	84277802	missense	possibly damaging	0.85
IGL01767:Acaca	APN	11	84320542	missense	probably benign	0.01
IGL02206:Acaca	APN	11	84260747	nonsense	probably null
IGL02335:Acaca	APN	11	84214258	missense	possibly damaging	0.84
IGL02477:Acaca	APN	11	84307168	splice site	probably benign
IGL02515:Acaca	APN	11	84262403	missense	probably benign
IGL02651:Acaca	APN	11	84245204	splice site	probably benign
IGL02805:Acaca	APN	11	84223133	splice site	probably benign
IGL03328:Acaca	APN	11	84320529	missense	probably benign	0.00
ANU05:Acaca	UTSW	11	84315852	missense	probably damaging	1.00
R0385:Acaca	UTSW	11	84231748	missense	probably benign	0.01
R0518:Acaca	UTSW	11	84290286	critical splice acceptor site	probably null
R0536:Acaca	UTSW	11	84280516	splice site	probably benign
R0962:Acaca	UTSW	11	84311303	missense	probably damaging	1.00
R0968:Acaca	UTSW	11	84239033	nonsense	probably null
R1123:Acaca	UTSW	11	84264080	missense	probably benign	0.09
R1452:Acaca	UTSW	11	84295059	splice site	probably benign
R1478:Acaca	UTSW	11	84372627	missense	probably damaging	1.00
R1500:Acaca	UTSW	11	84293984	missense	probably benign	0.00
R1512:Acaca	UTSW	11	84195469	missense	probably benign	0.00
R1657:Acaca	UTSW	11	84264084	missense	probably benign	0.09
R1681:Acaca	UTSW	11	84226185	missense	probably damaging	1.00
R1682:Acaca	UTSW	11	84392217	missense	probably benign	0.23
R1688:Acaca	UTSW	11	84238896	missense	probably damaging	1.00
R1755:Acaca	UTSW	11	84276564	frame shift	probably null
R1775:Acaca	UTSW	11	84300422	missense	possibly damaging	0.56
R1793:Acaca	UTSW	11	84315969	missense	probably damaging	0.98
R1793:Acaca	UTSW	11	84338393	missense	probably damaging	1.00
R1855:Acaca	UTSW	11	84371554	missense	probably damaging	0.96
R1881:Acaca	UTSW	11	84270387	nonsense	probably null
R1881:Acaca	UTSW	11	84300471	splice site	probably benign
R1989:Acaca	UTSW	11	84262529	missense	probably damaging	0.98
R2147:Acaca	UTSW	11	84276536	missense	probably benign	0.03
R2215:Acaca	UTSW	11	84363793	missense	probably damaging	1.00
R2238:Acaca	UTSW	11	84391505	splice site	probably benign
R2252:Acaca	UTSW	11	84371532	missense	probably damaging	0.99
R2316:Acaca	UTSW	11	84264080	missense	probably benign	0.16
R2316:Acaca	UTSW	11	84294983	missense	possibly damaging	0.69
R2337:Acaca	UTSW	11	84257197	missense	possibly damaging	0.93
R2697:Acaca	UTSW	11	84364413	missense	probably damaging	1.00
R3551:Acaca	UTSW	11	84261624	missense	probably damaging	1.00
R3552:Acaca	UTSW	11	84261624	missense	probably damaging	1.00
R3748:Acaca	UTSW	11	84311409	unclassified	probably null
R3844:Acaca	UTSW	11	84364413	missense	probably damaging	1.00
R3873:Acaca	UTSW	11	84312721	unclassified	probably benign
R4152:Acaca	UTSW	11	84292926	missense	possibly damaging	0.88
R4406:Acaca	UTSW	11	84280449	missense	probably benign	0.35
R4448:Acaca	UTSW	11	84262492	missense	probably damaging	1.00
R4642:Acaca	UTSW	11	84280461	missense	probably damaging	1.00
R4707:Acaca	UTSW	11	84312854	missense	probably damaging	0.96
R4710:Acaca	UTSW	11	84392337	missense	possibly damaging	0.84
R4775:Acaca	UTSW	11	84243339	missense	probably damaging	1.00
R4821:Acaca	UTSW	11	84294987	missense	possibly damaging	0.69
R4883:Acaca	UTSW	11	84251290	missense	probably benign	0.01
R4988:Acaca	UTSW	11	84263295	missense	probably damaging	1.00
R5034:Acaca	UTSW	11	84245264	missense	probably benign	0.00
R5255:Acaca	UTSW	11	84311307	missense	probably damaging	1.00
R5294:Acaca	UTSW	11	84391519	missense	probably benign	0.01
R5350:Acaca	UTSW	11	84215873	missense	probably damaging	0.99
R5437:Acaca	UTSW	11	84346820	splice site	probably null
R5664:Acaca	UTSW	11	84243384	missense	probably damaging	1.00
R5665:Acaca	UTSW	11	84245294	nonsense	probably null
R5959:Acaca	UTSW	11	84215966	missense	probably damaging	1.00
R6011:Acaca	UTSW	11	84245744	missense	probably benign	0.44
R6027:Acaca	UTSW	11	84398177	missense	probably benign
R6246:Acaca	UTSW	11	84315970	missense	probably benign	0.08
R6313:Acaca	UTSW	11	84292929	missense	probably benign	0.00
R6450:Acaca	UTSW	11	84280468	missense	probably damaging	0.98
R6623:Acaca	UTSW	11	84371499	critical splice acceptor site	probably null
R6736:Acaca	UTSW	11	84238838	missense	probably benign	0.05
R6752:Acaca	UTSW	11	84195483	missense	probably benign	0.44
R6807:Acaca	UTSW	11	84391530	missense	probably benign
R6826:Acaca	UTSW	11	84195536	missense	probably damaging	1.00
X0027:Acaca	UTSW	11	84292895	missense	probably benign	0.01
X0060:Acaca	UTSW	11	84264104	missense	probably benign
X0067:Acaca	UTSW	11	84368737	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGCTTTAAGGGTCTTGCAC -3'
(R):5'- AGGGTTCATTCAAGTCTGCCC -3'

Sequencing Primer
(F):5'- GCACCCTCTTACCTCACGG -3'
(R):5'- GGGTTCATTCAAGTCTGCCCATTTG -3'

Posted On

2015-10-21