Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Acsl5'

167591

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

040871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55240298-55285060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55268924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 195 (V195A)

Ref Sequence

ENSEMBL: ENSMUSP00000046585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000224337] [ENSMUST00000225551] [ENSMUST00000225963] [ENSMUST00000226103]

AlphaFold

Q8JZR0

Predicted Effect

probably benign
Transcript: ENSMUST00000043150
AA Change: V195A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: V195A

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: ENSMUST00000224337

Predicted Effect

probably benign
Transcript: ENSMUST00000225454

Predicted Effect

probably benign
Transcript: ENSMUST00000225551

Predicted Effect

probably benign
Transcript: ENSMUST00000225963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226019

Predicted Effect

probably benign
Transcript: ENSMUST00000226103

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,139,568 (GRCm39)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,504,487 (GRCm39)	W22R	probably damaging	Het
AA986860	A	G	1: 130,670,831 (GRCm39)	E351G	probably damaging	Het
Actmap	A	G	7: 26,902,105 (GRCm39)	H244R	probably damaging	Het
Adamts10	A	G	17: 33,756,293 (GRCm39)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,646,693 (GRCm39)	R859*	probably null	Het
Atp8b1	T	A	18: 64,683,503 (GRCm39)	I742L	probably benign	Het
B3galnt2	T	A	13: 14,145,354 (GRCm39)	V89E	probably damaging	Het
Brinp3	A	C	1: 146,777,628 (GRCm39)	T692P	probably damaging	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Cacna1a	T	A	8: 85,360,062 (GRCm39)	M1976K	probably benign	Het
Castor2	T	G	5: 134,154,726 (GRCm39)	S43R	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,368,139 (GRCm39)	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,460,932 (GRCm39)	M240L	probably benign	Het
Clnk	G	A	5: 38,952,309 (GRCm39)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,274,228 (GRCm39)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,817,193 (GRCm39)	I373F	unknown	Het
Dmxl1	C	T	18: 49,985,434 (GRCm39)	A227V	probably benign	Het
Dok5	A	G	2: 170,574,052 (GRCm39)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,496,622 (GRCm39)	V138D	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Farp2	A	G	1: 93,546,275 (GRCm39)	Q855R	possibly damaging	Het
Fcrl2	A	C	3: 87,164,014 (GRCm39)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,773,297 (GRCm39)	A113V	probably damaging	Het
Gda	T	A	19: 21,389,903 (GRCm39)	E219D	probably benign	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,469,219 (GRCm39)	S148R	probably damaging	Het
Golga2	T	C	2: 32,192,216 (GRCm39)	V325A	probably benign	Het
Hpf1	A	G	8: 61,349,783 (GRCm39)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,943,293 (GRCm39)	S291*	probably null	Het
Itga5	G	A	15: 103,265,209 (GRCm39)	Q233*	probably null	Het
Jazf1	C	A	6: 52,789,168 (GRCm39)	R102L	probably damaging	Het
Kif6	T	G	17: 50,021,141 (GRCm39)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,904,873 (GRCm39)	K217T	probably damaging	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Mmel1	A	G	4: 154,979,443 (GRCm39)	E717G	probably damaging	Het
Mndal	G	T	1: 173,699,032 (GRCm39)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,490,073 (GRCm39)	N551K	probably damaging	Het
Nup210	G	A	6: 91,046,148 (GRCm39)	P595L	possibly damaging	Het
Or2ag15	A	G	7: 106,340,212 (GRCm39)	C310R	probably benign	Het
Or2g25	A	T	17: 37,970,661 (GRCm39)	C188S	probably damaging	Het
Or4k52	A	T	2: 111,610,693 (GRCm39)		probably null	Het
Or5ac17	T	G	16: 59,036,347 (GRCm39)	T210P	probably damaging	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Pank3	G	A	11: 35,672,508 (GRCm39)	V304M	probably benign	Het
Phf3	G	A	1: 30,844,729 (GRCm39)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,502,142 (GRCm39)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,500,424 (GRCm39)	D73G	probably damaging	Het
Prelid2	T	G	18: 42,014,332 (GRCm39)	M165L	probably benign	Het
Prkd3	A	C	17: 79,260,125 (GRCm39)	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,814,433 (GRCm39)	N778I	probably damaging	Het
Ptprm	T	C	17: 67,000,866 (GRCm39)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 72,982,764 (GRCm39)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 92,044,205 (GRCm39)	F949L	probably benign	Het
Rbm33	A	G	5: 28,542,002 (GRCm39)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,462,284 (GRCm39)	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,530,675 (GRCm39)	L875F	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Selenbp1	G	A	3: 94,844,669 (GRCm39)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,092,702 (GRCm39)	G63D	probably damaging	Het
Snx14	T	C	9: 88,284,277 (GRCm39)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,150,557 (GRCm39)	E6528G	probably damaging	Het
Syt5	T	C	7: 4,543,245 (GRCm39)	E338G	probably damaging	Het
Tbk1	T	C	10: 121,387,223 (GRCm39)	K691E	probably benign	Het
Tenm3	G	A	8: 48,848,611 (GRCm39)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,757,933 (GRCm39)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,224,820 (GRCm39)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,940,620 (GRCm39)	R66*	probably null	Het
Tmem39b	G	T	4: 129,578,275 (GRCm39)	D315E	probably benign	Het
Tnxb	T	C	17: 34,937,612 (GRCm39)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,319,250 (GRCm39)	L225*	probably null	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,726 (GRCm39)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,955,698 (GRCm39)	I1091T	probably benign	Het
Tst	T	C	15: 78,284,143 (GRCm39)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,702,060 (GRCm39)		probably benign	Het
Uap1	A	C	1: 169,978,510 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,530,011 (GRCm39)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,802,129 (GRCm39)	T38A	probably benign	Het
Uvssa	A	T	5: 33,545,152 (GRCm39)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,542,693 (GRCm39)	H113P	probably damaging	Het
Vps13d	A	T	4: 144,824,742 (GRCm39)		probably null	Het
Zfp182	T	A	X: 20,897,799 (GRCm39)	I166L	probably benign	Het
Zfp811	A	T	17: 33,016,622 (GRCm39)	Y472N	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
R0571:Acsl5	UTSW	19	55,277,343 (GRCm39)	intron	probably benign
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
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'- AAGAGTCCATTTGCACTCACCTTCC -3'
(R):5'- GCTTCTGAGTCTGGCTTATGTCCAC -3'

Sequencing Primer
(F):5'- GTTCTAGACACTAAAGTGTGCCAG -3'
(R):5'- GTGTAGATGGCCTGCATCC -3'

Posted On

2014-04-13