Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Acsl1'

285593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsl1

Ensembl Gene

ENSMUSG00000018796

Gene Name

acyl-CoA synthetase long-chain family member 1

Synonyms

Acas1, Facl2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

46924074-46989088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46987402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 662 (E662G)

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: E662G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: E662G

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: E662G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: E662G

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: E662G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: E662G

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

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

Coding Region Coverage

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	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
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
R4622:Acsl1	UTSW	8	46,979,410 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16