Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Acsl3'

192299

Institutional Source

Beutler Lab

Gene Symbol

Acsl3

Ensembl Gene

ENSMUSG00000032883

Gene Name

acyl-CoA synthetase long-chain family member 3

Synonyms

2610510B12Rik, Facl3, C85929

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78657825-78707743 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78705397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000134566] [ENSMUST00000142704]

AlphaFold

Q9CZW4

Predicted Effect

probably benign
Transcript: ENSMUST00000035779

SMART Domains

Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:AMP-binding	113	587	2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134566

SMART Domains

Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	1	435	4.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142704

SMART Domains

Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:AMP-binding	113	587	2.5e-106	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148608

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice exhibit decreased blood percentages of CD4 T cells and B cells, and a decreased IgG1 response to ovalbumin. Male mutant mice exhibit growth retardation, reduced size and reduced total tissue and lean body mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Acsl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Acsl3	APN	1	78699759	missense	possibly damaging	0.79
IGL02201:Acsl3	APN	1	78699153	missense	probably damaging	1.00
IGL03162:Acsl3	APN	1	78699170	critical splice donor site	probably null
R0601:Acsl3	UTSW	1	78696179	missense	probably damaging	1.00
R0658:Acsl3	UTSW	1	78701287	missense	probably damaging	1.00
R1389:Acsl3	UTSW	1	78688282	missense	probably benign
R1468:Acsl3	UTSW	1	78706409	missense	probably benign	0.03
R1468:Acsl3	UTSW	1	78706409	missense	probably benign	0.03
R2083:Acsl3	UTSW	1	78699811	missense	probably damaging	0.99
R2125:Acsl3	UTSW	1	78681961	missense	probably damaging	0.97
R2191:Acsl3	UTSW	1	78699140	missense	probably damaging	1.00
R2299:Acsl3	UTSW	1	78699110	missense	probably damaging	1.00
R2395:Acsl3	UTSW	1	78705368	missense	probably benign	0.00
R2964:Acsl3	UTSW	1	78694294	missense	probably benign	0.01
R3403:Acsl3	UTSW	1	78696122	missense	probably damaging	1.00
R4655:Acsl3	UTSW	1	78690346	missense	probably damaging	1.00
R5537:Acsl3	UTSW	1	78706356	missense	probably damaging	1.00
R5823:Acsl3	UTSW	1	78688286	missense	probably benign
R6239:Acsl3	UTSW	1	78696465	missense	probably benign	0.00
R6376:Acsl3	UTSW	1	78696465	missense	possibly damaging	0.81
R6650:Acsl3	UTSW	1	78681922	missense	probably benign	0.03
R7031:Acsl3	UTSW	1	78688283	missense	probably benign
R7282:Acsl3	UTSW	1	78681992	missense	probably damaging	0.97
R7733:Acsl3	UTSW	1	78688236	critical splice acceptor site	probably null
R7891:Acsl3	UTSW	1	78703588	missense	probably benign	0.02
R7998:Acsl3	UTSW	1	78694271	missense	probably damaging	1.00
R8056:Acsl3	UTSW	1	78681894	missense	probably damaging	1.00
R8083:Acsl3	UTSW	1	78692127	missense	probably damaging	1.00
R8084:Acsl3	UTSW	1	78692127	missense	probably damaging	1.00
R8135:Acsl3	UTSW	1	78696995	missense	probably benign	0.00
R8982:Acsl3	UTSW	1	78699768	missense	probably benign	0.00
R9267:Acsl3	UTSW	1	78696906	missense	probably damaging	1.00
R9380:Acsl3	UTSW	1	78681885	missense	possibly damaging	0.47
X0025:Acsl3	UTSW	1	78692202	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTAAGACGATTAGTAAGCGCAGTACG -3'
(R):5'- ATAGACTCACTGGGCCAGGACACA -3'

Sequencing Primer
(F):5'- AACTTTGGTCCTTGACTAAGTTATCC -3'
(R):5'- caggagacaggaaaaataactaagac -3'

Posted On

2014-05-14