Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Acsl5'

584055

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

045615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55240298-55285060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55266615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 59 (V59I)

Gene Model

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

AlphaFold

Q8JZR0

Predicted Effect

probably null
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: ENSMUST00000224337

Predicted Effect

probably benign
Transcript: ENSMUST00000225551

Predicted Effect

probably benign
Transcript: ENSMUST00000225963

Predicted Effect

probably benign
Transcript: ENSMUST00000226103

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464 (GRCm39)	S103P	possibly damaging	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,486,199 (GRCm39)	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Krt18	A	G	15: 101,939,896 (GRCm39)	K365E	probably damaging	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Pramel1	T	C	4: 143,124,993 (GRCm39)	S306P	probably damaging	Het
Prpsap2	A	T	11: 61,635,797 (GRCm39)	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,495,503 (GRCm39)	A107V	probably benign	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	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
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
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'- CATGAGCTGCTTTGGCCTTG -3'
(R):5'- ACCTGCAAGATTTTGTGGAGC -3'

Sequencing Primer
(F):5'- GGCCTTGTTTTGATCCTGACC -3'
(R):5'- CAAGATTTTGTGGAGCCATTCC -3'

Posted On

2019-10-17