Mutagenetix > Incidental Mutation

Incidental Mutation 'R0190:Acsl1'

23171

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

038451-MU

Accession Numbers

Essential gene?

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

Stock #

R0190 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

46924074-46989088 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 46966429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106001 (fasta)

Gene Model

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

AlphaFold

P41216

Predicted Effect

probably null
Transcript: ENSMUST00000034046

SMART Domains

Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796

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 null
Transcript: ENSMUST00000110371

SMART Domains

Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796

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 null
Transcript: ENSMUST00000110372

SMART Domains

Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796

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: ENSMUST00000128746

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

noncoding transcript
Transcript: ENSMUST00000210929

Predicted Effect

probably benign
Transcript: ENSMUST00000211644

Meta Mutation Damage Score

0.9586

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 91.6%
20x: 72.5%

Validation Efficiency

75% (45/60)

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
Aff2	CA	CAAA	X: 68,892,711 (GRCm39)		probably null	Het
Ankrd34a	A	G	3: 96,505,105 (GRCm39)	D103G	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
Atxn10	A	G	15: 85,220,730 (GRCm39)	D22G	possibly damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Caskin1	C	T	17: 24,723,596 (GRCm39)	L795F	possibly damaging	Het
Cdk12	T	C	11: 98,132,657 (GRCm39)		probably null	Het
Crtc2	A	G	3: 90,166,716 (GRCm39)	H91R	probably damaging	Het
Dbt	A	G	3: 116,332,736 (GRCm39)		probably null	Het
Dda1	C	A	8: 71,924,877 (GRCm39)	Y41*	probably null	Het
Dnah2	T	A	11: 69,326,075 (GRCm39)	D3692V	probably damaging	Het
Dpep1	A	G	8: 123,927,447 (GRCm39)	T334A	probably benign	Het
Enthd1	C	T	15: 80,418,695 (GRCm39)		probably null	Het
Fpr-rs6	T	A	17: 20,402,741 (GRCm39)	I207F	probably benign	Het
Fsip2	T	A	2: 82,815,521 (GRCm39)	S3751R	possibly damaging	Het
Gigyf2	A	T	1: 87,356,410 (GRCm39)		probably benign	Het
Gtf3c4	C	A	2: 28,730,140 (GRCm39)	D34Y	probably benign	Het
Iftap	G	A	2: 101,416,775 (GRCm39)	S58L	probably benign	Het
Igfn1	A	T	1: 135,889,790 (GRCm39)	V2419E	probably damaging	Het
Kank1	A	T	19: 25,386,647 (GRCm39)	I79L	probably benign	Het
Kif21b	A	G	1: 136,098,957 (GRCm39)	H1415R	probably benign	Het
Mad2l1	T	C	6: 66,516,862 (GRCm39)	S185P	possibly damaging	Het
Mettl18	A	G	1: 163,823,991 (GRCm39)	E104G	probably damaging	Het
Mrgprb2	G	A	7: 48,202,525 (GRCm39)	H67Y	possibly damaging	Het
Mrgprd	G	A	7: 144,875,439 (GRCm39)	M103I	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Nucks1	A	G	1: 131,852,329 (GRCm39)	D60G	probably damaging	Het
Or10g7	A	G	9: 39,905,840 (GRCm39)	I245V	probably benign	Het
Or13f5	G	C	4: 52,825,613 (GRCm39)	W72S	probably damaging	Het
Or4a72	T	A	2: 89,405,302 (GRCm39)	Y256F	probably damaging	Het
Paqr8	A	G	1: 21,005,271 (GRCm39)	T142A	probably benign	Het
Pdss1	T	C	2: 22,796,843 (GRCm39)	S119P	probably damaging	Het
Plcl2	A	G	17: 50,914,671 (GRCm39)	D560G	probably benign	Het
Ppm1b	T	A	17: 85,301,531 (GRCm39)	V137E	probably damaging	Het
Ppp1r16b	A	C	2: 158,537,983 (GRCm39)	K35Q	probably damaging	Het
Prkd2	A	T	7: 16,603,815 (GRCm39)	E832V	probably damaging	Het
Rab34	G	T	11: 78,082,232 (GRCm39)	K191N	possibly damaging	Het
Rad51ap2	A	C	12: 11,508,540 (GRCm39)	T821P	probably benign	Het
Rbm19	A	G	5: 120,282,111 (GRCm39)	T823A	probably benign	Het
Rpf2	T	G	10: 40,103,597 (GRCm39)	H106P	probably damaging	Het
Schip1	A	G	3: 68,533,177 (GRCm39)	M453V	probably benign	Het
Sema5a	T	A	15: 32,562,920 (GRCm39)	N310K	possibly damaging	Het
Sf3b1	T	C	1: 55,029,465 (GRCm39)	D1179G	probably damaging	Het
Skint2	A	T	4: 112,473,729 (GRCm39)	T4S	possibly damaging	Het
Slc22a5	A	T	11: 53,760,241 (GRCm39)	Y358*	probably null	Het
Slc34a1	T	C	13: 55,556,914 (GRCm39)	M251T	probably benign	Het
Slc44a5	A	G	3: 153,944,755 (GRCm39)	D124G	probably null	Het
Slc9b1	G	A	3: 135,063,434 (GRCm39)	E73K	unknown	Het
Ssbp2	T	C	13: 91,817,829 (GRCm39)	L156P	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Trim47	A	G	11: 115,997,053 (GRCm39)	V568A	probably damaging	Het
Ttn	A	T	2: 76,718,324 (GRCm39)		probably benign	Het
Ttpa	A	T	4: 20,021,260 (GRCm39)	I74F	probably damaging	Het
Vmn2r52	T	C	7: 9,905,315 (GRCm39)	I175V	probably benign	Het
Wrn	C	T	8: 33,731,011 (GRCm39)	C1350Y	probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp422	A	T	6: 116,603,572 (GRCm39)	D142E	probably damaging	Het
Zfp473	A	T	7: 44,382,612 (GRCm39)	C574S	probably damaging	Het
Zfp638	T	A	6: 83,905,946 (GRCm39)	M37K	probably damaging	Het
Zfp976	C	A	7: 42,291,948 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TTGAACTCTCCTGGAACCTGGCAC -3'
(R):5'- AGGCTGATGATTTCCACCCCACAC -3'

Sequencing Primer
(F):5'- AGACAGACGTTAAGTTTGCTGC -3'
(R):5'- AGATCACTGCCGTAGGAGTC -3'

Posted On

2013-04-16