Mutagenetix > Incidental Mutation

Incidental Mutation 'R9608:Acsl5'

724065

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9608 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55240298-55285060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55272884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 333 (I333N)

Ref Sequence

ENSEMBL: ENSMUSP00000046585 (fasta)

Gene Model

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

AlphaFold

Q8JZR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043150
AA Change: I333N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: I333N

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: ENSMUST00000225963

Predicted Effect

probably benign
Transcript: ENSMUST00000226103

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,291,279 (GRCm39)	N333S	probably null	Het
Adgrb2	A	G	4: 129,907,352 (GRCm39)	T955A	probably damaging	Het
Agxt2	T	C	15: 10,400,624 (GRCm39)	F476S	possibly damaging	Het
Asb14	T	A	14: 26,634,148 (GRCm39)	F451Y	probably damaging	Het
Atg9a	A	T	1: 75,161,739 (GRCm39)	N602K	possibly damaging	Het
Atp2a3	T	C	11: 72,879,866 (GRCm39)	I978T	probably benign	Het
BC034090	A	G	1: 155,099,135 (GRCm39)	V550A	possibly damaging	Het
Bud23	T	A	5: 135,086,526 (GRCm39)		probably null	Het
C1qtnf3	A	T	15: 10,952,568 (GRCm39)	H10L	probably benign	Het
Cage1	G	C	13: 38,195,371 (GRCm39)	I783M	possibly damaging	Het
Ccdc142	C	T	6: 83,084,082 (GRCm39)	Q496*	probably null	Het
Cd163	A	C	6: 124,286,163 (GRCm39)	K238Q	possibly damaging	Het
Cdh6	A	T	15: 13,064,621 (GRCm39)	Y90N	probably damaging	Het
Cpeb1	A	G	7: 81,021,758 (GRCm39)		probably null	Het
Cpt2	G	T	4: 107,765,341 (GRCm39)	P141Q	probably damaging	Het
Cspg4	T	A	9: 56,792,836 (GRCm39)	H190Q	probably benign	Het
Dcst1	T	C	3: 89,266,442 (GRCm39)	M139V	possibly damaging	Het
Dennd5a	G	C	7: 109,520,713 (GRCm39)	N381K	probably damaging	Het
Dera	A	G	6: 137,813,876 (GRCm39)	R299G	possibly damaging	Het
Dnah2	C	T	11: 69,344,888 (GRCm39)	G2729R	probably null	Het
Dnajc11	A	G	4: 152,034,978 (GRCm39)	E67G	possibly damaging	Het
Eif2ak3	T	A	6: 70,841,511 (GRCm39)	C152*	probably null	Het
Eln	T	G	5: 134,755,331 (GRCm39)	K241Q	unknown	Het
Exoc6b	C	T	6: 84,602,106 (GRCm39)		probably null	Het
Eya1	A	T	1: 14,373,029 (GRCm39)	I30K	probably benign	Het
Fbxo39	A	G	11: 72,208,101 (GRCm39)	K151R	probably benign	Het
Fer	A	G	17: 64,214,327 (GRCm39)	T87A	probably benign	Het
Fgf4	A	T	7: 144,415,335 (GRCm39)	N32Y	possibly damaging	Het
Fkbp6	G	A	5: 135,375,027 (GRCm39)	P129S	probably damaging	Het
Fndc7	C	A	3: 108,774,597 (GRCm39)	V554F	probably damaging	Het
Frk	G	A	10: 34,481,873 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,357,786 (GRCm39)	I139N	possibly damaging	Het
Gm17175	A	T	14: 51,809,099 (GRCm39)	M89K	probably damaging	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gpihbp1	G	A	15: 75,469,612 (GRCm39)	C109Y	probably damaging	Het
Gps1	T	C	11: 120,677,641 (GRCm39)	V257A	probably benign	Het
H2-M3	T	C	17: 37,581,159 (GRCm39)	S3P	probably benign	Het
Hmcn1	G	A	1: 150,475,303 (GRCm39)	P4674L	probably damaging	Het
Hoxa11	T	C	6: 52,222,224 (GRCm39)	D159G	probably benign	Het
Kcnn4	G	A	7: 24,083,503 (GRCm39)	D395N	probably damaging	Het
Krt222	T	C	11: 99,126,981 (GRCm39)	E213G	probably damaging	Het
Lmcd1	A	G	6: 112,306,785 (GRCm39)	D319G	possibly damaging	Het
Ltv1	A	G	10: 13,066,440 (GRCm39)	F62S	probably damaging	Het
Man2a1	G	T	17: 65,041,953 (GRCm39)	R957L	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrpl45	T	G	11: 97,217,687 (GRCm39)	V197G	probably damaging	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nek4	T	C	14: 30,675,904 (GRCm39)	Y73H	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Or10q1b	A	T	19: 13,682,868 (GRCm39)	I226F	probably damaging	Het
Or4k5	A	G	14: 50,386,055 (GRCm39)	I92T	probably benign	Het
Or5p68	A	G	7: 107,945,513 (GRCm39)	L225P	probably damaging	Het
Pacs1	A	G	19: 5,193,862 (GRCm39)	S556P	probably damaging	Het
Pcdh1	C	T	18: 38,330,904 (GRCm39)	V839M	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,694 (GRCm39)	N341K	probably damaging	Het
Pde6d	G	A	1: 86,473,424 (GRCm39)	T124M	possibly damaging	Het
Piezo2	T	A	18: 63,280,016 (GRCm39)	E185V	probably benign	Het
Pkhd1l1	T	C	15: 44,442,029 (GRCm39)	V3656A	possibly damaging	Het
Plcg1	A	G	2: 160,597,671 (GRCm39)	Y771C	probably benign	Het
Ppdpf	T	C	2: 180,829,668 (GRCm39)	L41P	probably benign	Het
Prepl	T	C	17: 85,376,321 (GRCm39)	T578A	probably benign	Het
Prkdc	C	A	16: 15,548,334 (GRCm39)	L1981M	possibly damaging	Het
Prkdc	T	A	16: 15,548,335 (GRCm39)	L1981Q	probably damaging	Het
Rb1cc1	C	T	1: 6,318,528 (GRCm39)	S649L	probably benign	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Sbf1	T	A	15: 89,191,808 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,152,687 (GRCm39)	I776V	probably benign	Het
Sec23a	G	A	12: 59,019,804 (GRCm39)	P588S	probably benign	Het
Slfn5	A	G	11: 82,851,830 (GRCm39)	D652G	possibly damaging	Het
Slfn5	C	A	11: 82,852,321 (GRCm39)	P816T	probably benign	Het
Smarcad1	C	T	6: 65,091,318 (GRCm39)	T1013I	probably damaging	Het
Spidr	G	A	16: 15,855,474 (GRCm39)	T347I	probably benign	Het
Stx1b	A	T	7: 127,406,551 (GRCm39)	M266K	probably damaging	Het
Tarm1	A	G	7: 3,551,062 (GRCm39)		probably benign	Het
Tfap2c	A	T	2: 172,391,764 (GRCm39)	K4*	probably null	Het
Trpm5	A	T	7: 142,633,148 (GRCm39)	V819E	possibly damaging	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Uqcc2	A	T	17: 27,341,709 (GRCm39)	V130D	probably benign	Het
Uspl1	T	A	5: 149,151,870 (GRCm39)	D1023E	probably benign	Het
Vinac1	C	T	2: 128,878,550 (GRCm39)	W1125*	probably null	Het
Vmn2r28	A	T	7: 5,491,220 (GRCm39)	H342Q	probably benign	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps45	G	A	3: 95,940,982 (GRCm39)	R420W	probably damaging	Het
Zfp42	C	T	8: 43,749,172 (GRCm39)	V110I	possibly damaging	Het
Zfp467	T	A	6: 48,404,776 (GRCm39)	K100N	unknown	Het
Zfyve16	A	T	13: 92,636,788 (GRCm39)	S1307R	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
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
X0013:Acsl5	UTSW	19	55,282,096 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCCTCTCAGAGACATACTTG -3'
(R):5'- TGCTTAGATAGATACTTGTCGGAGC -3'

Sequencing Primer
(F):5'- GCCTCTCAGAGACATACTTGGGTATC -3'
(R):5'- TAGATACTTGTCGGAGCTCAGAC -3'

Posted On

2022-09-12