Mutagenetix > Incidental Mutation

Incidental Mutation 'R4622:Acsl1'

346243

Institutional Source

Beutler Lab

Gene Symbol

Acsl1

Ensembl Gene

ENSMUSG00000018796

Gene Name

acyl-CoA synthetase long-chain family member 1

Synonyms

Acas1, Facl2

MMRRC Submission

041887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R4622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46924074-46989088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46979410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 421 (I421L)

Ref Sequence

ENSEMBL: ENSMUSP00000106001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034046] [ENSMUST00000110371] [ENSMUST00000110372]

AlphaFold

P41216

Predicted Effect

probably benign
Transcript: ENSMUST00000034046
AA Change: I421L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: I421L

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
Pfam:AMP-binding	97	564	7.9e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110371
AA Change: I421L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: I421L

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
Pfam:AMP-binding	97	564	4.1e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110372
AA Change: I421L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: I421L

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
Pfam:AMP-binding	101	564	9.7e-104	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133161

Predicted Effect

probably benign
Transcript: ENSMUST00000152423

SMART Domains

Protein: ENSMUSP00000118845
Gene: ENSMUSG00000018796

Domain	Start	End	E-Value	Type
SCOP:d1lci__	2	65	2e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210929

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to a family of acyl coenzyme A synthetase proteins, which convert long chain fatty acids to acyl CoA products via an ATP-dependent pathway. This enzyme is enriched in heart, liver and adipose tissue, where it functions in lipid synthesis and mitochondrial and peroxisomal beta-oxidation. In addition, it is expressed in monocytes and macrophages where it appears to have a functionally distinct role in mediating inflammatory and innate immune responses. A pseudogene of this gene is found on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Liver acyl-CoA levels are reduced when this gene is conditionally knocked out in the liver. Impaired adaptive thermogenesis when this gene is conditionally knocked out in adipose tissue. [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
Aadacl2	A	T	3: 59,914,474 (GRCm39)	N26Y	probably damaging	Het
Aass	C	T	6: 23,092,329 (GRCm39)	D194N	probably damaging	Het
Acp7	T	C	7: 28,313,822 (GRCm39)	Y404C	probably damaging	Het
Adgrb3	A	T	1: 25,865,569 (GRCm39)	D91E	probably damaging	Het
Adgrg3	T	C	8: 95,767,153 (GRCm39)	S503P	probably damaging	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Arhgap32	A	T	9: 32,150,644 (GRCm39)	I15F	possibly damaging	Het
Arid1b	G	T	17: 5,045,325 (GRCm39)		probably benign	Het
Asnsd1	A	G	1: 53,387,378 (GRCm39)	V83A	probably benign	Het
Atg101	A	G	15: 101,191,213 (GRCm39)		probably benign	Het
Atp8a1	T	C	5: 67,840,056 (GRCm39)		probably benign	Het
Aurkb	T	A	11: 68,939,188 (GRCm39)	L137Q	probably damaging	Het
AY702103	A	T	17: 50,547,029 (GRCm39)		noncoding transcript	Het
B3gnt9	A	G	8: 105,980,477 (GRCm39)	S304P	probably benign	Het
Babam2	T	C	5: 32,164,656 (GRCm39)	V310A	probably damaging	Het
Batf	A	G	12: 85,755,327 (GRCm39)	D60G	possibly damaging	Het
Baz1a	A	T	12: 54,988,300 (GRCm39)	I283K	probably benign	Het
Bmerb1	A	C	16: 13,911,786 (GRCm39)	E44A	possibly damaging	Het
Bst1	T	G	5: 43,976,261 (GRCm39)		probably benign	Het
C2	C	A	17: 35,082,650 (GRCm39)	V490L	probably damaging	Het
Cacna1e	T	C	1: 154,347,311 (GRCm39)	E952G	possibly damaging	Het
Ccnyl1	A	G	1: 64,757,417 (GRCm39)	D262G	probably damaging	Het
Cdc42bpa	A	T	1: 179,902,223 (GRCm39)	K493N	probably damaging	Het
Cenpe	A	G	3: 134,949,469 (GRCm39)	T85A	probably benign	Het
Ces2e	T	A	8: 105,655,341 (GRCm39)		probably null	Het
Chd3	T	A	11: 69,239,834 (GRCm39)	R1665W	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cspg4b	A	G	13: 113,456,615 (GRCm39)	D887G	probably benign	Het
Ctnnd2	A	T	15: 30,887,315 (GRCm39)	M781L	probably benign	Het
Ctnnd2	A	G	15: 31,009,259 (GRCm39)	T1094A	probably benign	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Ddx54	G	A	5: 120,764,488 (GRCm39)	V732M	probably damaging	Het
Ecrg4	G	T	1: 43,781,481 (GRCm39)	R121L	possibly damaging	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Eva1c	T	A	16: 90,694,343 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
Fasl	A	G	1: 161,614,703 (GRCm39)	L120P	probably benign	Het
H2-M9	A	T	17: 36,952,716 (GRCm39)		probably null	Het
Hdgf	C	A	3: 87,821,884 (GRCm39)	N198K	possibly damaging	Het
Hspa9	A	T	18: 35,082,090 (GRCm39)	M172K	possibly damaging	Het
Il1r1	A	C	1: 40,351,580 (GRCm39)	L406F	probably damaging	Het
Il31	T	C	5: 123,618,498 (GRCm39)	D96G	probably damaging	Het
Inhbc	A	G	10: 127,193,146 (GRCm39)	I290T	probably benign	Het
Lrp2	A	T	2: 69,290,693 (GRCm39)	V3589D	possibly damaging	Het
Lrrc14	A	T	15: 76,600,540 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,848,983 (GRCm39)	A2057T	probably benign	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mapk10	C	A	5: 103,137,590 (GRCm39)	G209V	probably damaging	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Met	G	T	6: 17,513,383 (GRCm39)	R411L	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl4	G	A	9: 20,918,793 (GRCm39)	R176Q	probably damaging	Het
Mrtfb	G	A	16: 13,150,570 (GRCm39)	G102D	probably damaging	Het
Mtmr3	T	C	11: 4,441,067 (GRCm39)	T528A	possibly damaging	Het
Mtmr7	A	T	8: 41,034,583 (GRCm39)	N246K	probably damaging	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Necab3	A	G	2: 154,397,502 (GRCm39)		probably null	Het
Nr1d1	C	T	11: 98,660,710 (GRCm39)	C419Y	probably damaging	Het
Nwd1	C	A	8: 73,393,928 (GRCm39)	A397E	probably damaging	Het
Oas1f	A	T	5: 120,986,390 (GRCm39)	K114N	probably damaging	Het
Or13a18	T	A	7: 140,190,611 (GRCm39)	C169*	probably null	Het
Or1e35	C	A	11: 73,797,737 (GRCm39)	V194F	possibly damaging	Het
Or51ab3	G	T	7: 103,201,361 (GRCm39)	R123L	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or5w13	T	A	2: 87,523,987 (GRCm39)	K80*	probably null	Het
Osbpl8	T	C	10: 111,127,357 (GRCm39)	S814P	probably benign	Het
Pcdhgb7	A	T	18: 37,886,183 (GRCm39)	Q451L	probably benign	Het
Pde7b	C	T	10: 20,294,538 (GRCm39)	R300Q	probably damaging	Het
Pgghg	A	G	7: 140,521,409 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,589,688 (GRCm39)		probably benign	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppt2	A	G	17: 34,844,875 (GRCm39)	V123A	probably benign	Het
Prdx5	G	T	19: 6,884,341 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,197 (GRCm39)	D819G	probably benign	Het
Prss3l	A	T	6: 41,422,246 (GRCm39)	I53N	probably damaging	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Rab3gap1	T	C	1: 127,870,156 (GRCm39)	C919R	probably benign	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rec8	C	T	14: 55,862,215 (GRCm39)	R480C	probably damaging	Het
Reg3d	A	G	6: 78,354,442 (GRCm39)	L53S	probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Scn2a	T	C	2: 65,582,371 (GRCm39)	V1573A	probably benign	Het
Selenoo	G	T	15: 88,979,910 (GRCm39)	G353*	probably null	Het
Siva1	A	G	12: 112,611,501 (GRCm39)	Y34C	probably damaging	Het
Slc2a4	C	T	11: 69,835,600 (GRCm39)		probably benign	Het
Slc39a12	A	T	2: 14,405,136 (GRCm39)	T243S	probably benign	Het
Slc9b2	T	C	3: 135,038,279 (GRCm39)	I453T	probably damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Tbc1d24	A	T	17: 24,427,865 (GRCm39)	D32E	probably benign	Het
Tet1	T	A	10: 62,655,253 (GRCm39)	H1556L	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,731,296 (GRCm39)		probably benign	Het
Uimc1	A	T	13: 55,225,307 (GRCm39)	L89H	probably damaging	Het
Vipas39	A	G	12: 87,291,317 (GRCm39)	I343T	probably damaging	Het
Vmn2r71	G	T	7: 85,269,817 (GRCm39)	V443L	probably benign	Het
Zbtb14	G	A	17: 69,695,342 (GRCm39)	D347N	possibly damaging	Het
Zfp980	G	T	4: 145,428,627 (GRCm39)	C452F	probably damaging	Het
Zmym5	T	A	14: 57,049,693 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,883,673 (GRCm39)	T145A	possibly damaging	Het

Other mutations in Acsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Acsl1	APN	8	46,966,797 (GRCm39)	unclassified	probably benign
IGL01356:Acsl1	APN	8	46,964,500 (GRCm39)	critical splice donor site	probably null
IGL02227:Acsl1	APN	8	46,987,402 (GRCm39)	missense	probably benign	0.40
IGL02812:Acsl1	APN	8	46,945,873 (GRCm39)	missense	possibly damaging	0.47
IGL03061:Acsl1	APN	8	46,961,374 (GRCm39)	missense	probably damaging	0.97
IGL03329:Acsl1	APN	8	46,946,031 (GRCm39)	missense	possibly damaging	0.88
R0019:Acsl1	UTSW	8	46,974,287 (GRCm39)	splice site	probably null
R0190:Acsl1	UTSW	8	46,966,429 (GRCm39)	critical splice donor site	probably null
R0233:Acsl1	UTSW	8	46,966,606 (GRCm39)	unclassified	probably benign
R0479:Acsl1	UTSW	8	46,984,109 (GRCm39)	missense	probably damaging	1.00
R1325:Acsl1	UTSW	8	46,966,337 (GRCm39)	missense	probably benign
R1930:Acsl1	UTSW	8	46,984,023 (GRCm39)	missense	probably benign	0.21
R1931:Acsl1	UTSW	8	46,984,023 (GRCm39)	missense	probably benign	0.21
R2035:Acsl1	UTSW	8	46,981,621 (GRCm39)	missense	probably damaging	1.00
R2126:Acsl1	UTSW	8	46,986,663 (GRCm39)	missense	probably benign	0.01
R2167:Acsl1	UTSW	8	46,986,627 (GRCm39)	missense	possibly damaging	0.91
R3051:Acsl1	UTSW	8	46,974,374 (GRCm39)	missense	probably benign	0.00
R3052:Acsl1	UTSW	8	46,974,374 (GRCm39)	missense	probably benign	0.00
R3753:Acsl1	UTSW	8	46,966,602 (GRCm39)	unclassified	probably benign
R3883:Acsl1	UTSW	8	46,980,228 (GRCm39)	missense	probably benign	0.19
R3956:Acsl1	UTSW	8	46,987,495 (GRCm39)	missense	probably damaging	1.00
R5012:Acsl1	UTSW	8	46,974,468 (GRCm39)	missense	probably benign	0.01
R5168:Acsl1	UTSW	8	46,966,303 (GRCm39)	unclassified	probably benign
R5464:Acsl1	UTSW	8	46,958,775 (GRCm39)	missense	probably benign
R5678:Acsl1	UTSW	8	46,945,887 (GRCm39)	missense	probably benign	0.03
R7151:Acsl1	UTSW	8	46,966,634 (GRCm39)	missense	probably damaging	1.00
R7831:Acsl1	UTSW	8	46,972,043 (GRCm39)	missense	probably benign	0.01
R8719:Acsl1	UTSW	8	46,966,700 (GRCm39)	missense	probably benign
R9240:Acsl1	UTSW	8	46,966,406 (GRCm39)	missense	probably benign	0.02
R9256:Acsl1	UTSW	8	46,945,930 (GRCm39)	missense	probably damaging	0.99
R9302:Acsl1	UTSW	8	46,983,470 (GRCm39)	missense	probably damaging	1.00
R9354:Acsl1	UTSW	8	46,966,753 (GRCm39)	missense	probably benign	0.01
R9747:Acsl1	UTSW	8	46,961,397 (GRCm39)	missense	probably benign	0.23
R9786:Acsl1	UTSW	8	46,974,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCTTGGAAGATGTGAGAACC -3'
(R):5'- TTTGGCTGTAGCTGGAGAAC -3'

Sequencing Primer
(F):5'- AGATGTGAGAACCTTACTTCTTGCC -3'
(R):5'- ATCTACCACTGAGCCAGCTGTG -3'

Posted On

2015-09-25