Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Acsl1'

700693

Institutional Source

Beutler Lab

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 #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46924074-46989088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46966406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 187 (I187V)

Ref Sequence

ENSEMBL: ENSMUSP00000034046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034046] [ENSMUST00000110371] [ENSMUST00000110372] [ENSMUST00000135955] [ENSMUST00000211644]

AlphaFold

P41216

Predicted Effect

probably benign
Transcript: ENSMUST00000034046
AA Change: I187V

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

SMART Domains

Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: I187V

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: I187V

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

SMART Domains

Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: I187V

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: I187V

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

SMART Domains

Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: I187V

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: ENSMUST00000135955

SMART Domains

Protein: ENSMUSP00000117546
Gene: ENSMUSG00000018796

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
SCOP:d1lci__	78	137	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211644

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	C	A	14: 68,747,208 (GRCm39)	V584L	probably benign	Het
Arsg	T	A	11: 109,463,093 (GRCm39)	V451E	probably benign	Het
Btbd8	A	G	5: 107,600,034 (GRCm39)	D175G	probably benign	Het
Cacnb3	C	T	15: 98,540,486 (GRCm39)	P338L	probably benign	Het
Cars1	G	T	7: 143,138,533 (GRCm39)	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566 (GRCm39)		probably null	Het
Cdh23	C	T	10: 60,215,044 (GRCm39)	D1431N	probably benign	Het
Cenpf	A	T	1: 189,389,167 (GRCm39)	V1555D	probably benign	Het
Creb3l2	T	C	6: 37,311,506 (GRCm39)	N428D	possibly damaging	Het
Crebbp	A	T	16: 3,917,537 (GRCm39)		probably null	Het
Cstf1	C	A	2: 172,217,669 (GRCm39)	P94Q	probably damaging	Het
Dis3l	A	G	9: 64,217,447 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,005 (GRCm39)	D124E	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Eea1	T	G	10: 95,776,824 (GRCm39)	I5S	probably benign	Het
F7	A	T	8: 13,085,173 (GRCm39)	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,651,632 (GRCm39)	E558*	probably null	Het
Fcgr2b	C	T	1: 170,797,042 (GRCm39)		probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Flt1	T	C	5: 147,618,676 (GRCm39)	N220D	probably benign	Het
Fzd9	A	G	5: 135,278,812 (GRCm39)	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,106,398 (GRCm39)	Q545*	probably null	Het
Gkn3	T	C	6: 87,365,789 (GRCm39)	N10S	probably benign	Het
Gls	C	G	1: 52,207,553 (GRCm39)	V604L	probably benign	Het
Gtf2i	T	A	5: 134,292,619 (GRCm39)	Q375L	probably benign	Het
Hells	A	G	19: 38,935,289 (GRCm39)	M320V	possibly damaging	Het
Ints3	T	C	3: 90,310,410 (GRCm39)	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,622 (GRCm39)	L95F	probably benign	Het
Mat1a	G	A	14: 40,827,573 (GRCm39)	C9Y	probably benign	Het
Mfsd4b5	A	G	10: 39,851,099 (GRCm39)	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,281,864 (GRCm39)	I231M	possibly damaging	Het
Muc16	T	C	9: 18,449,309 (GRCm39)	T7580A	unknown	Het
Myb	A	T	10: 21,016,500 (GRCm39)	L670Q	probably damaging	Het
Nisch	A	G	14: 30,906,988 (GRCm39)	L236P	unknown	Het
Or5d38	A	C	2: 87,955,231 (GRCm39)	F33V	probably benign	Het
Plscr4	A	T	9: 92,366,934 (GRCm39)	M183L	probably benign	Het
Polr1a	T	A	6: 71,940,661 (GRCm39)	C998*	probably null	Het
Prokr2	A	T	2: 132,223,377 (GRCm39)	V55E	possibly damaging	Het
Prr12	A	T	7: 44,684,075 (GRCm39)	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rspo1	C	T	4: 124,885,132 (GRCm39)	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,156,082 (GRCm39)	D171E	probably damaging	Het
Ryr1	A	G	7: 28,743,313 (GRCm39)	F3895L	probably damaging	Het
Scn8a	G	T	15: 100,915,068 (GRCm39)	G1211*	probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarcd3	T	A	5: 24,801,831 (GRCm39)	M103L	probably benign	Het
Smg1	A	T	7: 117,739,031 (GRCm39)	S3458T	probably benign	Het
Smg6	C	T	11: 74,825,884 (GRCm39)	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,401 (GRCm39)	Q1708*	probably null	Het
Taf2	A	T	15: 54,926,464 (GRCm39)	V162E	probably null	Het
Tbc1d23	A	T	16: 57,032,748 (GRCm39)	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,818,960 (GRCm39)	S532G	probably benign	Het
Tedc1	T	C	12: 113,121,310 (GRCm39)	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,764,262 (GRCm39)	G588A	probably damaging	Het
Top2a	T	A	11: 98,901,368 (GRCm39)	K519*	probably null	Het
Trim47	T	A	11: 115,999,148 (GRCm39)	M243L	probably benign	Het
Ttn	A	T	2: 76,641,865 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,221,696 (GRCm39)	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,996,099 (GRCm39)	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,906,032 (GRCm39)	V197E	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
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
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
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'- TGAACTCTCCTGGAACCTGG -3'
(R):5'- CTAGGATGCTAAAAGCTTGACAC -3'

Sequencing Primer
(F):5'- ACAGACGTTAAGTTTGCTGCAG -3'
(R):5'- GGATGCTAAAAGCTTGACACACAAAC -3'

Posted On

2022-02-07