Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Acsl5'

46497

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

038762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0571 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

55240298-55285060 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 55277343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153404 (fasta)

Gene Model

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

AlphaFold

Q8JZR0

Predicted Effect

probably benign
Transcript: ENSMUST00000043150

SMART Domains

Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981

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: ENSMUST00000225963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226019

Predicted Effect

probably benign
Transcript: ENSMUST00000226103

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Actl6b	C	A	5: 137,565,046 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Ghsr	C	T	3: 27,426,165 (GRCm39)	R74C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mfn1	T	C	3: 32,615,621 (GRCm39)	I328T	probably damaging	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Or12k8	T	C	2: 36,975,346 (GRCm39)	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slc22a18	A	G	7: 143,045,598 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zfp646	A	G	7: 127,481,138 (GRCm39)	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably damaging	Het

Other mutations in Acsl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Acsl5	APN	19	55,261,265 (GRCm39)	missense	probably benign	0.02
IGL02792:Acsl5	APN	19	55,282,163 (GRCm39)	critical splice donor site	probably null
lyrebird	UTSW	19	55,261,251 (GRCm39)	nonsense	probably null
paradise	UTSW	19	55,266,615 (GRCm39)	missense
sharkey	UTSW	19	55,266,405 (GRCm39)	critical splice donor site	probably null
IGL02796:Acsl5	UTSW	19	55,266,601 (GRCm39)	nonsense	probably null
R0206:Acsl5	UTSW	19	55,269,001 (GRCm39)	missense	probably benign
R0400:Acsl5	UTSW	19	55,282,143 (GRCm39)	missense	probably damaging	0.99
R0418:Acsl5	UTSW	19	55,261,238 (GRCm39)	missense	probably benign	0.16
R0626:Acsl5	UTSW	19	55,272,904 (GRCm39)	missense	probably benign	0.00
R0792:Acsl5	UTSW	19	55,268,924 (GRCm39)	missense	probably benign	0.01
R1144:Acsl5	UTSW	19	55,280,275 (GRCm39)	missense	probably damaging	1.00
R1477:Acsl5	UTSW	19	55,279,904 (GRCm39)	missense	probably benign	0.23
R1522:Acsl5	UTSW	19	55,268,924 (GRCm39)	missense	probably benign	0.01
R1927:Acsl5	UTSW	19	55,266,586 (GRCm39)	missense	probably benign	0.37
R2495:Acsl5	UTSW	19	55,282,031 (GRCm39)	nonsense	probably null
R4153:Acsl5	UTSW	19	55,269,895 (GRCm39)	missense	probably benign	0.23
R4570:Acsl5	UTSW	19	55,280,206 (GRCm39)	missense	probably damaging	0.99
R4721:Acsl5	UTSW	19	55,268,962 (GRCm39)	missense	probably benign	0.00
R4834:Acsl5	UTSW	19	55,268,991 (GRCm39)	missense	probably benign	0.00
R5270:Acsl5	UTSW	19	55,282,650 (GRCm39)	missense	possibly damaging	0.50
R5360:Acsl5	UTSW	19	55,279,592 (GRCm39)	nonsense	probably null
R5436:Acsl5	UTSW	19	55,267,997 (GRCm39)	critical splice donor site	probably null
R5458:Acsl5	UTSW	19	55,282,662 (GRCm39)	missense	probably damaging	1.00
R5479:Acsl5	UTSW	19	55,268,894 (GRCm39)	missense	probably damaging	1.00
R5812:Acsl5	UTSW	19	55,283,268 (GRCm39)	missense	probably benign	0.01
R6232:Acsl5	UTSW	19	55,268,933 (GRCm39)	missense	possibly damaging	0.69
R6821:Acsl5	UTSW	19	55,277,268 (GRCm39)	missense	probably benign	0.03
R6874:Acsl5	UTSW	19	55,280,295 (GRCm39)	missense	probably damaging	1.00
R7030:Acsl5	UTSW	19	55,261,251 (GRCm39)	nonsense	probably null
R7156:Acsl5	UTSW	19	55,257,260 (GRCm39)	splice site	probably null
R7293:Acsl5	UTSW	19	55,279,642 (GRCm39)	missense	probably damaging	0.98
R7543:Acsl5	UTSW	19	55,266,615 (GRCm39)	missense
R7728:Acsl5	UTSW	19	55,276,285 (GRCm39)	nonsense	probably null
R7977:Acsl5	UTSW	19	55,266,405 (GRCm39)	critical splice donor site	probably null
R7987:Acsl5	UTSW	19	55,266,405 (GRCm39)	critical splice donor site	probably null
R8017:Acsl5	UTSW	19	55,257,228 (GRCm39)	missense	probably benign
R8221:Acsl5	UTSW	19	55,257,262 (GRCm39)	critical splice donor site	probably null
R8527:Acsl5	UTSW	19	55,280,259 (GRCm39)	missense	probably damaging	1.00
R8542:Acsl5	UTSW	19	55,280,259 (GRCm39)	missense	probably damaging	1.00
R8869:Acsl5	UTSW	19	55,266,523 (GRCm39)	missense	possibly damaging	0.82
R9000:Acsl5	UTSW	19	55,283,943 (GRCm39)	makesense	probably null
R9105:Acsl5	UTSW	19	55,269,002 (GRCm39)	missense	probably benign	0.02
R9136:Acsl5	UTSW	19	55,266,400 (GRCm39)	missense	probably benign	0.24
R9502:Acsl5	UTSW	19	55,271,744 (GRCm39)	missense	probably benign
R9608:Acsl5	UTSW	19	55,272,884 (GRCm39)	missense	probably damaging	1.00
X0013:Acsl5	UTSW	19	55,282,096 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAGGAATGGTGATGGCTCCAATAG -3'
(R):5'- TGGATGCTACTGGGAAACTGTGAATG -3'

Sequencing Primer
(F):5'- TTGTAAGTCAACCAAGTTGGACAG -3'
(R):5'- CTAAGCTTTTTGGTAAGGAGACC -3'

Posted On

2013-06-11