Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Acsl3'

197675

Institutional Source

Beutler Lab

Gene Symbol

Acsl3

Ensembl Gene

ENSMUSG00000032883

Gene Name

acyl-CoA synthetase long-chain family member 3

Synonyms

C85929, 2610510B12Rik, Facl3

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78635600-78685462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78684126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 719 (R719S)

Ref Sequence

ENSEMBL: ENSMUSP00000121695 (fasta)

Gene Model

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

AlphaFold

Q9CZW4

Predicted Effect

probably benign
Transcript: ENSMUST00000035779
AA Change: R719S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883
AA Change: R719S

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
AA Change: R567S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883
AA Change: R567S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142704
AA Change: R719S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883
AA Change: R719S

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

Meta Mutation Damage Score

0.1107

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,246,507 (GRCm39)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,884,540 (GRCm39)		probably benign	Het
5031439G07Rik	G	T	15: 84,837,345 (GRCm39)	P280T	probably damaging	Het
Abca2	C	T	2: 25,331,308 (GRCm39)	S1267L	probably damaging	Het
Adam1a	A	T	5: 121,657,839 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,851 (GRCm39)		probably benign	Het
Adgrf3	G	A	5: 30,407,227 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,488,544 (GRCm39)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,525,752 (GRCm39)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,877,362 (GRCm39)	R291Q	probably benign	Het
Ano2	C	T	6: 125,773,227 (GRCm39)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,606,215 (GRCm39)	I125T	probably benign	Het
Arid1b	A	G	17: 5,293,197 (GRCm39)	D705G	probably damaging	Het
Asb18	T	A	1: 89,924,005 (GRCm39)	N86I	probably damaging	Het
Bicral	A	T	17: 47,135,519 (GRCm39)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,831,192 (GRCm39)	M253V	probably benign	Het
Braf	T	C	6: 39,642,017 (GRCm39)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,777,700 (GRCm39)	P716T	probably benign	Het
C7	T	A	15: 5,041,631 (GRCm39)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 95,632,714 (GRCm39)	K421R	probably benign	Het
Cep89	G	A	7: 35,120,388 (GRCm39)		probably null	Het
Chgb	A	T	2: 132,634,720 (GRCm39)	M221L	probably benign	Het
Chst14	A	G	2: 118,758,145 (GRCm39)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,331,152 (GRCm39)		probably null	Het
Clec12b	A	T	6: 129,357,603 (GRCm39)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,070,459 (GRCm39)	Y187*	probably null	Het
Crbn	T	C	6: 106,767,804 (GRCm39)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,811,762 (GRCm39)	Q201L	probably benign	Het
Ctrb1	G	T	8: 112,416,041 (GRCm39)		probably benign	Het
Cyp2c55	T	A	19: 38,999,525 (GRCm39)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,837,839 (GRCm39)	D414E	probably damaging	Het
Ddx47	T	C	6: 134,988,703 (GRCm39)		probably benign	Het
Dlg1	A	G	16: 31,661,640 (GRCm39)		probably null	Het
Dnah5	C	A	15: 28,230,609 (GRCm39)	S169*	probably null	Het
Dock4	C	A	12: 40,805,809 (GRCm39)	T927K	probably benign	Het
Esrp2	T	G	8: 106,860,453 (GRCm39)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,255,038 (GRCm39)	K418R	probably benign	Het
Fancm	A	T	12: 65,146,067 (GRCm39)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,771,385 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,463,582 (GRCm39)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,753,464 (GRCm39)	D486V	probably damaging	Het
Fech	C	T	18: 64,603,744 (GRCm39)		probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxp1	T	A	6: 98,955,181 (GRCm39)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,440,407 (GRCm39)	I138L	probably benign	Het
Gm12185	T	C	11: 48,806,501 (GRCm39)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,199,024 (GRCm39)		probably benign	Het
Gpd2	A	C	2: 57,245,786 (GRCm39)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,490,385 (GRCm39)	K20N	probably damaging	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hectd4	A	T	5: 121,487,235 (GRCm39)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,823,483 (GRCm39)		probably null	Het
Irx4	G	T	13: 73,413,695 (GRCm39)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,596,245 (GRCm39)		probably benign	Het
Lama3	T	C	18: 12,574,164 (GRCm39)	V582A	probably benign	Het
Ldhd	G	T	8: 112,353,925 (GRCm39)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,817,841 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,670,191 (GRCm39)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 65,909,722 (GRCm39)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,437,986 (GRCm39)	S21L	probably benign	Het
Mctp1	T	C	13: 76,973,392 (GRCm39)	V431A	probably benign	Het
Metap2	C	T	10: 93,707,345 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,920,536 (GRCm39)	K94*	probably null	Het
Micall2	A	G	5: 139,705,097 (GRCm39)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,927,673 (GRCm39)	T95A	possibly damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,873,574 (GRCm39)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,256,414 (GRCm39)	D105E	probably damaging	Het
Nrdc	T	A	4: 108,873,865 (GRCm39)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,777,458 (GRCm39)	I88F	probably damaging	Het
Nup160	A	T	2: 90,530,887 (GRCm39)	H515L	probably benign	Het
Nup205	G	A	6: 35,202,917 (GRCm39)		probably null	Het
Oas1g	G	A	5: 121,020,069 (GRCm39)	T179I	probably benign	Het
Ogfr	A	T	2: 180,236,543 (GRCm39)	E376V	probably damaging	Het
Or2l13	T	G	16: 19,306,378 (GRCm39)	S263R	probably benign	Het
Or4a69	A	T	2: 89,312,855 (GRCm39)	V208D	possibly damaging	Het
Or4c107	T	G	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Or52d1	G	T	7: 103,755,896 (GRCm39)	V137F	possibly damaging	Het
Or5p6	C	T	7: 107,631,595 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,384,188 (GRCm39)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,611,142 (GRCm39)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,290,825 (GRCm39)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,593,565 (GRCm39)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,763,344 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,304,173 (GRCm39)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,202,459 (GRCm39)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,746,220 (GRCm39)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,564,771 (GRCm39)		probably benign	Het
Sf3b3	A	T	8: 111,564,006 (GRCm39)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,239,646 (GRCm39)		probably null	Het
Shkbp1	A	T	7: 27,044,751 (GRCm39)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,021,685 (GRCm39)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,970,656 (GRCm39)	S332P	probably damaging	Het
Slit1	C	A	19: 41,596,823 (GRCm39)	C1092F	probably damaging	Het
Slx9	A	G	10: 77,333,360 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,533,678 (GRCm39)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,305,454 (GRCm39)	V185A	possibly damaging	Het
Taar9	A	T	10: 23,985,382 (GRCm39)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,814 (GRCm39)	E102G	probably damaging	Het
Tex44	A	G	1: 86,354,834 (GRCm39)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,986,665 (GRCm39)	V781I	probably benign	Het
Tonsl	C	T	15: 76,520,761 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,721,463 (GRCm39)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,391,171 (GRCm39)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,596,847 (GRCm39)	K875E	probably damaging	Het
Vapb	C	T	2: 173,603,905 (GRCm39)		probably benign	Het
Vmn1r223	A	G	13: 23,434,038 (GRCm39)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,129,496 (GRCm39)	V796I	probably damaging	Het
Wdr90	A	T	17: 26,073,027 (GRCm39)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,235,571 (GRCm39)	T615S	probably damaging	Het

Other mutations in Acsl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Acsl3	APN	1	78,677,476 (GRCm39)	missense	possibly damaging	0.79
IGL02201:Acsl3	APN	1	78,676,870 (GRCm39)	missense	probably damaging	1.00
IGL03162:Acsl3	APN	1	78,676,887 (GRCm39)	critical splice donor site	probably null
R0601:Acsl3	UTSW	1	78,673,896 (GRCm39)	missense	probably damaging	1.00
R0658:Acsl3	UTSW	1	78,679,004 (GRCm39)	missense	probably damaging	1.00
R1389:Acsl3	UTSW	1	78,665,999 (GRCm39)	missense	probably benign
R1468:Acsl3	UTSW	1	78,684,126 (GRCm39)	missense	probably benign	0.03
R1697:Acsl3	UTSW	1	78,683,114 (GRCm39)	splice site	probably benign
R2083:Acsl3	UTSW	1	78,677,528 (GRCm39)	missense	probably damaging	0.99
R2125:Acsl3	UTSW	1	78,659,678 (GRCm39)	missense	probably damaging	0.97
R2191:Acsl3	UTSW	1	78,676,857 (GRCm39)	missense	probably damaging	1.00
R2299:Acsl3	UTSW	1	78,676,827 (GRCm39)	missense	probably damaging	1.00
R2395:Acsl3	UTSW	1	78,683,085 (GRCm39)	missense	probably benign	0.00
R2964:Acsl3	UTSW	1	78,672,011 (GRCm39)	missense	probably benign	0.01
R3403:Acsl3	UTSW	1	78,673,839 (GRCm39)	missense	probably damaging	1.00
R4655:Acsl3	UTSW	1	78,668,063 (GRCm39)	missense	probably damaging	1.00
R5537:Acsl3	UTSW	1	78,684,073 (GRCm39)	missense	probably damaging	1.00
R5823:Acsl3	UTSW	1	78,666,003 (GRCm39)	missense	probably benign
R6239:Acsl3	UTSW	1	78,674,182 (GRCm39)	missense	probably benign	0.00
R6376:Acsl3	UTSW	1	78,674,182 (GRCm39)	missense	possibly damaging	0.81
R6650:Acsl3	UTSW	1	78,659,639 (GRCm39)	missense	probably benign	0.03
R7031:Acsl3	UTSW	1	78,666,000 (GRCm39)	missense	probably benign
R7282:Acsl3	UTSW	1	78,659,709 (GRCm39)	missense	probably damaging	0.97
R7733:Acsl3	UTSW	1	78,665,953 (GRCm39)	critical splice acceptor site	probably null
R7891:Acsl3	UTSW	1	78,681,305 (GRCm39)	missense	probably benign	0.02
R7998:Acsl3	UTSW	1	78,671,988 (GRCm39)	missense	probably damaging	1.00
R8056:Acsl3	UTSW	1	78,659,611 (GRCm39)	missense	probably damaging	1.00
R8083:Acsl3	UTSW	1	78,669,844 (GRCm39)	missense	probably damaging	1.00
R8084:Acsl3	UTSW	1	78,669,844 (GRCm39)	missense	probably damaging	1.00
R8135:Acsl3	UTSW	1	78,674,712 (GRCm39)	missense	probably benign	0.00
R8982:Acsl3	UTSW	1	78,677,485 (GRCm39)	missense	probably benign	0.00
R9267:Acsl3	UTSW	1	78,674,623 (GRCm39)	missense	probably damaging	1.00
R9380:Acsl3	UTSW	1	78,659,602 (GRCm39)	missense	possibly damaging	0.47
X0025:Acsl3	UTSW	1	78,669,919 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCACCCGTTTGCTGAGAACTTTGAC -3'
(R):5'- AGGCTGTAAAATCGCTGCTTCCC -3'

Sequencing Primer
(F):5'- GTTTGCTGAGAACTTTGACTTCATC -3'
(R):5'- CAGACAGACACGAGTTTGCTG -3'

Posted On

2014-05-23