Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Acsl5'

251024

Institutional Source

Beutler Lab

Gene Symbol

Acsl5

Ensembl Gene

ENSMUSG00000024981

Gene Name

acyl-CoA synthetase long-chain family member 5

Synonyms

Facl5, 1700030F05Rik

MMRRC Submission

040409-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55251938-55297720 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 55293599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 536 (K536*)

Ref Sequence

ENSEMBL: ENSMUSP00000046585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000076891] [ENSMUST00000224897] [ENSMUST00000225495] [ENSMUST00000225963] [ENSMUST00000226103]

AlphaFold

Q8JZR0

Predicted Effect

probably null
Transcript: ENSMUST00000043150
AA Change: K536*

SMART Domains

Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: K536*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:AMP-binding	82	548	2.7e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076891

SMART Domains

Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982

Domain	Start	End	E-Value	Type
transmembrane domain	19	41	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
Pfam:zf-DHHC	94	244	3.2e-38	PFAM
SH3	316	397	5.84e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224414

Predicted Effect

probably benign
Transcript: ENSMUST00000224897

Predicted Effect

probably benign
Transcript: ENSMUST00000225495

Predicted Effect

probably benign
Transcript: ENSMUST00000225963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226019

Predicted Effect

probably benign
Transcript: ENSMUST00000226103

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

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 uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676	W290*	probably null	Het
Adamts14	A	T	10: 61,198,970		probably null	Het
Agbl3	A	G	6: 34,846,764	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Bcl11b	G	A	12: 107,915,447	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,638,763	M426L	probably damaging	Het
Cep95	A	G	11: 106,809,282	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776		probably benign	Het
Cnbd1	A	T	4: 18,860,579	M389K	probably damaging	Het
Cnksr1	A	T	4: 134,232,162	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097		probably null	Het
Dido1	A	G	2: 180,689,388	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820	C182S	unknown	Het
Gm5724	C	A	6: 141,765,777	M69I	probably benign	Het
Golga3	T	A	5: 110,207,596	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990		probably benign	Het
Mmp19	A	G	10: 128,790,950		probably benign	Het
Msc	T	G	1: 14,755,249	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078		probably benign	Het
Ralgapa2	G	T	2: 146,361,400	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312		probably benign	Het
Rfx6	A	C	10: 51,726,675		probably benign	Het
Rras	G	A	7: 45,018,064	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703	K316E	probably damaging	Het
Spata31d1a	A	G	13: 59,701,993	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,995,787	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Trnt1	T	A	6: 106,773,369	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,707,505	F337L	probably null	Het
Zfp287	A	T	11: 62,714,633	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724		probably null	Het

Other mutations in Acsl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Acsl5	APN	19	55272833	missense	probably benign	0.02
IGL02792:Acsl5	APN	19	55293731	critical splice donor site	probably null
lyrebird	UTSW	19	55272819	nonsense	probably null
paradise	UTSW	19	55278183	missense
sharkey	UTSW	19	55277973	critical splice donor site	probably null
IGL02796:Acsl5	UTSW	19	55278169	nonsense	probably null
R0206:Acsl5	UTSW	19	55280569	missense	probably benign
R0400:Acsl5	UTSW	19	55293711	missense	probably damaging	0.99
R0418:Acsl5	UTSW	19	55272806	missense	probably benign	0.16
R0571:Acsl5	UTSW	19	55288911	intron	probably benign
R0626:Acsl5	UTSW	19	55284472	missense	probably benign	0.00
R0792:Acsl5	UTSW	19	55280492	missense	probably benign	0.01
R1144:Acsl5	UTSW	19	55291843	missense	probably damaging	1.00
R1477:Acsl5	UTSW	19	55291472	missense	probably benign	0.23
R1522:Acsl5	UTSW	19	55280492	missense	probably benign	0.01
R1927:Acsl5	UTSW	19	55278154	missense	probably benign	0.37
R4153:Acsl5	UTSW	19	55281463	missense	probably benign	0.23
R4570:Acsl5	UTSW	19	55291774	missense	probably damaging	0.99
R4721:Acsl5	UTSW	19	55280530	missense	probably benign	0.00
R4834:Acsl5	UTSW	19	55280559	missense	probably benign	0.00
R5270:Acsl5	UTSW	19	55294218	missense	possibly damaging	0.50
R5360:Acsl5	UTSW	19	55291160	nonsense	probably null
R5436:Acsl5	UTSW	19	55279565	critical splice donor site	probably null
R5458:Acsl5	UTSW	19	55294230	missense	probably damaging	1.00
R5479:Acsl5	UTSW	19	55280462	missense	probably damaging	1.00
R5812:Acsl5	UTSW	19	55294836	missense	probably benign	0.01
R6232:Acsl5	UTSW	19	55280501	missense	possibly damaging	0.69
R6821:Acsl5	UTSW	19	55288836	missense	probably benign	0.03
R6874:Acsl5	UTSW	19	55291863	missense	probably damaging	1.00
R7030:Acsl5	UTSW	19	55272819	nonsense	probably null
R7156:Acsl5	UTSW	19	55268828	splice site	probably null
R7293:Acsl5	UTSW	19	55291210	missense	probably damaging	0.98
R7543:Acsl5	UTSW	19	55278183	missense
R7728:Acsl5	UTSW	19	55287853	nonsense	probably null
R7977:Acsl5	UTSW	19	55277973	critical splice donor site	probably null
R7987:Acsl5	UTSW	19	55277973	critical splice donor site	probably null
R8017:Acsl5	UTSW	19	55268796	missense	probably benign
R8221:Acsl5	UTSW	19	55268830	critical splice donor site	probably null
R8527:Acsl5	UTSW	19	55291827	missense	probably damaging	1.00
R8542:Acsl5	UTSW	19	55291827	missense	probably damaging	1.00
R8869:Acsl5	UTSW	19	55278091	missense	possibly damaging	0.82
R9000:Acsl5	UTSW	19	55295511	makesense	probably null
R9105:Acsl5	UTSW	19	55280570	missense	probably benign	0.02
R9136:Acsl5	UTSW	19	55277968	missense	probably benign	0.24
R9502:Acsl5	UTSW	19	55283312	missense	probably benign
R9608:Acsl5	UTSW	19	55284452	missense	probably damaging	1.00
X0013:Acsl5	UTSW	19	55293664	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGGCTTTCTACAGACAGG -3'
(R):5'- GGGGCATCTTATCTGAACCCAC -3'

Sequencing Primer
(F):5'- TCTACAGACAGGCTTTGTGGAAG -3'
(R):5'- CCACCTATACAAATGCCTTATATGG -3'

Posted On

2014-12-04