Mutagenetix > Incidental Mutations

Incidental Mutation 'R6450:Acaca'

519366

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6450 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84129672-84401651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84280468 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 5 (V5E)

Ref Sequence

ENSEMBL: ENSMUSP00000139378 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020843
AA Change: V1176E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: V1176E

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: V1176E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: V1176E

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: V5E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139378
Gene: ENSMUSG00000020532
AA Change: V5E

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

Meta Mutation Damage Score

0.6710

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.1%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	G	7: 120,216,226	N232K	probably benign	Het
Adam18	A	T	8: 24,629,675	D529E	probably benign	Het
Adgrb3	T	C	1: 25,420,602	T798A	probably benign	Het
Alyref	T	C	11: 120,596,046	T130A	probably benign	Het
Arhgap24	A	G	5: 102,897,124	S591G	probably benign	Het
Carmil1	C	T	13: 24,036,564	G655E	probably damaging	Het
Cdc42bpg	T	A	19: 6,314,488		probably null	Het
Clec12a	T	A	6: 129,353,403	L48H	probably damaging	Het
Coq2	C	A	5: 100,661,904		probably benign	Het
Crb2	C	A	2: 37,793,826	F1113L	possibly damaging	Het
Ctla4	A	T	1: 60,912,713	M134L	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Efhb	A	G	17: 53,452,604	V290A	possibly damaging	Het
Epha8	T	C	4: 136,931,899	N843S	probably damaging	Het
Eva1a	A	T	6: 82,092,105	I138F	probably damaging	Het
Fat2	T	A	11: 55,289,310	I1402F	probably damaging	Het
Fat3	A	T	9: 15,999,170	H1845Q	possibly damaging	Het
Gimap8	T	A	6: 48,656,451	F401L	probably benign	Het
Gm12394	C	A	4: 42,792,489	G548W	probably damaging	Het
Gpr162	C	T	6: 124,861,189	R166Q	possibly damaging	Het
Hdac4	G	A	1: 91,984,711	P348S	possibly damaging	Het
Hist1h2ae	A	G	13: 23,570,945	V55A	probably damaging	Het
Hmcn2	T	C	2: 31,361,800	V849A	probably benign	Het
Inpp5b	T	A	4: 124,792,252	N696K	probably damaging	Het
Kdm5d	G	T	Y: 927,056	R598L	probably damaging	Homo
Kidins220	T	C	12: 25,057,191	S1548P	probably benign	Het
Kif2b	C	A	11: 91,576,366	V364L	probably damaging	Het
Kitl	A	G	10: 100,087,394	M1V	probably null	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Map6	T	C	7: 99,268,038	I6T	probably damaging	Het
Mastl	T	C	2: 23,120,929	T768A	probably damaging	Het
Mettl16	T	C	11: 74,805,338	V335A	probably benign	Het
Mpl	T	C	4: 118,448,700		probably null	Het
Myo5c	C	T	9: 75,286,578	T1205I	probably benign	Het
Nav2	C	A	7: 49,594,366	L2114I	probably damaging	Het
Neb	T	A	2: 52,194,469	K5330*	probably null	Het
Nfe2l1	C	T	11: 96,827,335	E125K	possibly damaging	Het
Olfr1317	T	A	2: 112,142,380	L145*	probably null	Het
Onecut3	A	G	10: 80,496,088	K361E	probably damaging	Het
Osbpl6	A	G	2: 76,564,830	N370S	possibly damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
P2rx4	A	G	5: 122,727,241	T310A	possibly damaging	Het
Pcdha11	G	T	18: 37,013,162	D769Y	probably damaging	Het
Pcgf6	C	T	19: 47,049,088	R124H	probably benign	Het
Pibf1	T	A	14: 99,137,210	Y362N	probably damaging	Het
Ppm1g	T	C	5: 31,203,124	E422G	probably benign	Het
Prmt8	T	C	6: 127,732,643	I85V	possibly damaging	Het
Prss27	A	T	17: 24,045,014	K225*	probably null	Het
Rai1	A	T	11: 60,186,603	T498S	probably benign	Het
Sbf2	C	A	7: 110,462,863	G23V	probably damaging	Het
Sdha	C	T	13: 74,334,293		probably null	Het
Sgo2a	C	T	1: 58,002,933	Q140*	probably null	Het
Sh3rf3	A	G	10: 58,984,144	D259G	probably damaging	Het
Slc27a3	C	A	3: 90,385,470	D631Y	probably damaging	Het
Slc7a10	T	C	7: 35,186,590	S37P	possibly damaging	Het
Slco6d1	A	G	1: 98,421,467	T88A	probably benign	Het
Smad4	A	T	18: 73,677,746	S56T	possibly damaging	Het
Smarcd1	A	G	15: 99,707,885	I346V	possibly damaging	Het
Spast	C	T	17: 74,368,840	P260S	probably benign	Het
Sprr2i	A	T	3: 92,408,710		probably benign	Het
Sptbn5	A	G	2: 120,047,135		probably benign	Het
Taar9	A	T	10: 24,109,240	Y99N	probably damaging	Het
Trappc10	A	T	10: 78,209,450	M468K	possibly damaging	Het
Trim66	T	C	7: 109,460,738	R814G	probably benign	Het
Tspan31	A	G	10: 127,068,358	C157R	probably damaging	Het
Vmn2r90	A	G	17: 17,733,236	D554G	possibly damaging	Het
Vmn2r91	A	T	17: 18,085,265	D70V	probably damaging	Het
Wdfy4	C	T	14: 33,108,692	G928R	probably damaging	Het
Wdr60	A	T	12: 116,246,727	Y314*	probably null	Het
Zfp346	G	T	13: 55,113,704	K102N	probably damaging	Het
Zmym4	G	A	4: 126,895,306	P1002S	probably damaging	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
greenhouse	UTSW	11	84338356	missense	probably damaging	1.00
Serene	UTSW	11	84311409	splice site	probably null
Tranquil	UTSW	11	84280461	missense	probably damaging	1.00
vitamin	UTSW	11	84280435	missense	possibly damaging	0.78
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	splice site	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
R4696:Acaca	UTSW	11	84280435	missense	possibly damaging	0.78
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
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
R7035:Acaca	UTSW	11	84238943	missense	probably damaging	1.00
R7078:Acaca	UTSW	11	84263312	missense	possibly damaging	0.91
R7088:Acaca	UTSW	11	84278957	critical splice donor site	probably null
R7201:Acaca	UTSW	11	84262474	missense	probably benign	0.41
R7261:Acaca	UTSW	11	84368700	missense	probably damaging	1.00
R7399:Acaca	UTSW	11	84260679	missense	possibly damaging	0.89
R7421:Acaca	UTSW	11	84363736	missense	possibly damaging	0.64
R7443:Acaca	UTSW	11	84315793	missense	probably benign	0.02
R7453:Acaca	UTSW	11	84245310	missense	probably benign
R7471:Acaca	UTSW	11	84277782	splice site	probably null
R7519:Acaca	UTSW	11	84245856	missense	probably damaging	0.98
R7537:Acaca	UTSW	11	84260634	missense	probably damaging	1.00
R7574:Acaca	UTSW	11	84261588	missense	probably benign
R7633:Acaca	UTSW	11	84372639	missense	probably benign	0.26
R7643:Acaca	UTSW	11	84338356	missense	probably damaging	1.00
R7664:Acaca	UTSW	11	84245349	missense	probably damaging	1.00
R7675:Acaca	UTSW	11	84315916	missense	probably benign	0.04
R7676:Acaca	UTSW	11	84294987	missense	possibly damaging	0.69
R7729:Acaca	UTSW	11	84371513	missense	probably damaging	0.98
R7867:Acaca	UTSW	11	84249524	missense	possibly damaging	0.88
R7898:Acaca	UTSW	11	84364449	critical splice donor site	probably null
R7909:Acaca	UTSW	11	84245235	missense	possibly damaging	0.56
R7915:Acaca	UTSW	11	84276588	missense	probably benign
R7956:Acaca	UTSW	11	84320580	missense	probably damaging	0.98
R8000:Acaca	UTSW	11	84392231	missense	possibly damaging	0.88
R8038:Acaca	UTSW	11	84215904	missense	probably damaging	1.00
R8545:Acaca	UTSW	11	84345968	missense	probably damaging	1.00
R8722:Acaca	UTSW	11	84338457	missense	possibly damaging	0.85
RF014:Acaca	UTSW	11	84231724	missense	probably benign	0.01
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
Z1176:Acaca	UTSW	11	84260720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGCTTTAAGGGTCTTGCACC -3'
(R):5'- GGGTTCATTCAAGTCTGCCC -3'

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

Posted On

2018-05-24