Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Acly'

593164

Institutional Source

Beutler Lab

Gene Symbol

Acly

Ensembl Gene

ENSMUSG00000020917

Gene Name

ATP citrate lyase

Synonyms

A730098H14Rik

Accession Numbers

NCBI RefSeq: NM_001199296.1, NM_134037.3; MGI: 103251

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100476353-100528000 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 100504854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007131] [ENSMUST00000107385] [ENSMUST00000107389] [ENSMUST00000165111]

AlphaFold

Q91V92

Predicted Effect

probably null
Transcript: ENSMUST00000007131

SMART Domains

Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_2	6	207	2.4e-8	PFAM
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC
Pfam:CoA_binding	484	590	3.9e-14	PFAM
Pfam:Ligase_CoA	650	775	1.2e-16	PFAM
Pfam:Citrate_synt	868	1076	4.8e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107385

SMART Domains

Protein: ENSMUSP00000103008
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_2	6	207	2.1e-6	PFAM
SCOP:d1eucb1	255	417	1e-26	SMART
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107389

SMART Domains

Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:Citrate_bind	244	421	1.7e-94	PFAM
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC
Pfam:CoA_binding	494	600	6.6e-15	PFAM
Pfam:Ligase_CoA	660	785	2.1e-16	PFAM
Pfam:Citrate_synt	879	1085	2e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165111

SMART Domains

Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_2	6	207	2.4e-8	PFAM
low complexity region	441	457	N/A	INTRINSIC
low complexity region	465	475	N/A	INTRINSIC
Pfam:CoA_binding	484	590	3.9e-14	PFAM
Pfam:Ligase_CoA	650	775	1.2e-16	PFAM
Pfam:Citrate_synt	868	1076	4.8e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

Strain: 5287022; 3036686
Lethality: E7-E8
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mutation of this gene results in embryonic lethality. Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

All alleles(37) : Targeted(1) Gene trapped(35) Transgenic(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	probably benign	Het

Other mutations in Acly

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Acly	APN	11	100495910	missense	probably benign	0.00
IGL01661:Acly	APN	11	100514342	splice site	probably benign
IGL02349:Acly	APN	11	100519679	missense	probably benign	0.01
IGL02792:Acly	APN	11	100478410	missense	probably damaging	0.97
IGL03026:Acly	APN	11	100519690	missense	possibly damaging	0.94
IGL03144:Acly	APN	11	100515083	missense	possibly damaging	0.84
IGL03230:Acly	APN	11	100494059	missense	probably damaging	0.99
IGL03266:Acly	APN	11	100483752	missense	probably damaging	1.00
Coyote	UTSW	11	100479255	missense	probably damaging	0.99
lupine	UTSW	11	100515905	missense	probably damaging	1.00
P0014:Acly	UTSW	11	100484604	missense	probably benign	0.03
R0195:Acly	UTSW	11	100512974	missense	possibly damaging	0.56
R0319:Acly	UTSW	11	100504982	missense	probably damaging	1.00
R0598:Acly	UTSW	11	100478390	missense	probably damaging	1.00
R1115:Acly	UTSW	11	100479255	missense	probably damaging	0.99
R1201:Acly	UTSW	11	100493935	missense	probably damaging	1.00
R1498:Acly	UTSW	11	100483801	missense	probably benign	0.27
R1593:Acly	UTSW	11	100481755	missense	possibly damaging	0.74
R1804:Acly	UTSW	11	100515905	missense	probably damaging	1.00
R1817:Acly	UTSW	11	100495891	missense	probably benign	0.00
R1980:Acly	UTSW	11	100495876	missense	possibly damaging	0.87
R1997:Acly	UTSW	11	100519151	missense	probably damaging	1.00
R2125:Acly	UTSW	11	100523496	missense	probably benign	0.01
R3001:Acly	UTSW	11	100504227	missense	possibly damaging	0.91
R3002:Acly	UTSW	11	100504227	missense	possibly damaging	0.91
R3003:Acly	UTSW	11	100504227	missense	possibly damaging	0.91
R5194:Acly	UTSW	11	100523546	missense	probably benign
R5509:Acly	UTSW	11	100514979	missense	probably damaging	0.97
R5594:Acly	UTSW	11	100522120	splice site	probably null
R6077:Acly	UTSW	11	100519757	missense	probably benign
R6310:Acly	UTSW	11	100482220	missense	possibly damaging	0.92
R7099:Acly	UTSW	11	100492291	splice site	probably null
R7148:Acly	UTSW	11	100483782	missense	possibly damaging	0.49
R7149:Acly	UTSW	11	100484625	missense	probably damaging	1.00
R7349:Acly	UTSW	11	100521991	missense	probably benign
R7450:Acly	UTSW	11	100479275	missense	probably damaging	1.00
R7484:Acly	UTSW	11	100495963	missense	probably damaging	1.00
R7728:Acly	UTSW	11	100516797	missense	probably damaging	1.00
R7728:Acly	UTSW	11	100519687	missense	probably benign	0.06
R7750:Acly	UTSW	11	100478013	critical splice donor site	probably null
R8042:Acly	UTSW	11	100514325	missense	probably damaging	1.00
R8221:Acly	UTSW	11	100519750	missense	probably damaging	1.00
R8407:Acly	UTSW	11	100494071	missense	possibly damaging	0.67
R8677:Acly	UTSW	11	100519743	missense	probably damaging	0.96
R8721:Acly	UTSW	11	100521980	critical splice donor site	probably null
R8861:Acly	UTSW	11	100484598	critical splice donor site	probably null
R8894:Acly	UTSW	11	100516813	missense	probably benign	0.21
R9171:Acly	UTSW	11	100516831	missense	probably benign
R9622:Acly	UTSW	11	100504959	missense	probably damaging	1.00
R9632:Acly	UTSW	11	100498246	missense	probably damaging	1.00
R9729:Acly	UTSW	11	100516885	missense	probably benign	0.00
R9784:Acly	UTSW	11	100498286	missense	probably benign	0.03
X0028:Acly	UTSW	11	100495933	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAATATGGGAGCTGATTTTG -3'
(R):5'- TTCTTTTCTTGCAGGGAAGACC -3'

Sequencing Primer
(F):5'- AAGTCCCACTGTTTGCAAGG -3'
(R):5'- TTCTTGCAGGGAAGACCACTGG -3'

Posted On

2019-11-12