Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Acsl5'

381264

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

041794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55240298-55285060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55280206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 493 (I493N)

Ref Sequence

ENSEMBL: ENSMUSP00000046585 (fasta)

Gene Model

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

AlphaFold

Q8JZR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043150
AA Change: I493N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: I493N

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: ENSMUST00000224414

Predicted Effect

probably benign
Transcript: ENSMUST00000225963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226019

Predicted Effect

probably benign
Transcript: ENSMUST00000226103

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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
Abca7	A	G	10: 79,842,528 (GRCm39)	D1154G	probably damaging	Het
Adgrf5	T	A	17: 43,756,006 (GRCm39)	S450T	probably benign	Het
Ak2	T	C	4: 128,895,960 (GRCm39)	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,698,458 (GRCm39)	Q643K	probably damaging	Het
Asap3	A	G	4: 135,967,496 (GRCm39)	D605G	probably damaging	Het
Ccr5	C	T	9: 123,924,912 (GRCm39)	Q172*	probably null	Het
Cpxm2	T	C	7: 131,745,435 (GRCm39)	D130G	probably benign	Het
Cspg4b	T	A	13: 113,454,725 (GRCm39)	V257D	probably damaging	Het
Cxcl12	T	C	6: 117,145,633 (GRCm39)	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dzip1l	A	T	9: 99,529,221 (GRCm39)	K317*	probably null	Het
Edil3	A	G	13: 89,280,016 (GRCm39)		probably benign	Het
Enpep	A	T	3: 129,075,197 (GRCm39)	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,740,189 (GRCm39)		probably null	Het
Flt1	C	T	5: 147,531,423 (GRCm39)	A847T	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gemin6	C	T	17: 80,535,498 (GRCm39)	R153*	probably null	Het
Gldc	T	A	19: 30,151,839 (GRCm39)	M112L	probably benign	Het
Gm10267	C	T	18: 44,289,492 (GRCm39)	M79I	probably benign	Het
Gm10803	A	G	2: 93,394,597 (GRCm39)	Y123C	unknown	Het
Gm28040	C	A	1: 133,257,119 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,056,570 (GRCm39)		noncoding transcript	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,247,200 (GRCm39)	Y141H	probably damaging	Het
Hmbox1	T	A	14: 65,061,111 (GRCm39)	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,142,628 (GRCm39)	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,208,569 (GRCm39)	H118Q	probably benign	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Kcna2	A	G	3: 107,012,111 (GRCm39)	I231V	probably benign	Het
Kcnh7	T	C	2: 62,667,439 (GRCm39)	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,847 (GRCm39)	C197*	probably null	Het
Klra2	C	A	6: 131,220,900 (GRCm39)	C54F	probably damaging	Het
Lcn9	T	C	2: 25,713,591 (GRCm39)	L39P	probably benign	Het
Lct	T	C	1: 128,227,641 (GRCm39)	N1284S	probably benign	Het
Map6	T	G	7: 98,985,763 (GRCm39)	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812 (GRCm39)	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,439,388 (GRCm39)	L109P	probably damaging	Het
Mucl3	T	C	17: 35,948,883 (GRCm39)	T239A	possibly damaging	Het
Mybphl	G	A	3: 108,272,347 (GRCm39)	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,367,508 (GRCm39)	K388E	probably damaging	Het
Nvl	A	G	1: 180,971,647 (GRCm39)	V9A	probably benign	Het
Obscn	T	C	11: 58,897,654 (GRCm39)		probably null	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,423,603 (GRCm39)	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppara	A	G	15: 85,671,398 (GRCm39)	I100V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Scmh1	T	A	4: 120,385,495 (GRCm39)	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,313,902 (GRCm39)	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,313,101 (GRCm39)		probably null	Het
Slc7a4	G	A	16: 17,392,141 (GRCm39)	T431I	probably benign	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Spopl	T	A	2: 23,427,497 (GRCm39)	K212*	probably null	Het
Strn	T	A	17: 78,984,801 (GRCm39)	T281S	possibly damaging	Het
Supt3	T	A	17: 45,352,116 (GRCm39)	L265*	probably null	Het
Taf5l	G	A	8: 124,724,289 (GRCm39)	T510M	probably damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Tarbp1	A	T	8: 127,178,972 (GRCm39)	D702E	probably benign	Het
Tfap2c	C	A	2: 172,399,247 (GRCm39)	P473Q	probably damaging	Het
Tnc	T	C	4: 63,913,909 (GRCm39)	N1301S	probably damaging	Het
Trim33	A	G	3: 103,237,481 (GRCm39)	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,287,554 (GRCm39)	N335S	probably benign	Het
Uggt1	T	A	1: 36,189,154 (GRCm39)	D1444V	probably damaging	Het
Ugt3a1	T	C	15: 9,338,807 (GRCm39)	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,467,068 (GRCm39)	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,286,354 (GRCm39)	M284K	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp703	T	C	8: 27,468,981 (GRCm39)	V215A	probably benign	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
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'- GCTTGGGTTTGATTCCTCAAC -3'
(R):5'- AGCTGCCTTGGCTGATTAAG -3'

Sequencing Primer
(F):5'- GTTTGATTCCTCAACTTTTAGGAAGC -3'
(R):5'- GTATAGCTAATCCCTCTTGCAACAAG -3'

Posted On

2016-04-26