Mutagenetix > Incidental Mutation

Incidental Mutation 'R8719:Acsl1'

670015

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

068614-MU

Accession Numbers

Essential gene?

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

Stock #

R8719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46924074-46989088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46966700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 224 (I224T)

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: I224T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: I224T

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: I224T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: I224T

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: I224T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: I224T

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

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

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
Adamts20	C	G	15: 94,241,903 (GRCm39)	A702P	probably damaging	Het
Ahdc1	T	A	4: 132,791,533 (GRCm39)	Y925N	possibly damaging	Het
Anapc1	T	C	2: 128,483,369 (GRCm39)	E1242G	probably damaging	Het
Angptl2	A	G	2: 33,133,914 (GRCm39)	N412S	possibly damaging	Het
Aox3	T	C	1: 58,158,696 (GRCm39)	V89A	probably damaging	Het
Atxn1l	A	T	8: 110,459,861 (GRCm39)	S134T	possibly damaging	Het
Brf1	C	A	12: 112,943,304 (GRCm39)		probably benign	Het
Cab39l	A	T	14: 59,734,314 (GRCm39)	H11L	probably benign	Het
Cabcoco1	A	G	10: 68,272,671 (GRCm39)		probably benign	Het
Ccdc150	C	A	1: 54,302,668 (GRCm39)	P96Q	probably benign	Het
Chek2	T	C	5: 111,014,908 (GRCm39)	V459A	probably damaging	Het
Cntnap2	A	T	6: 45,978,161 (GRCm39)	D272V	probably damaging	Het
Cspp1	T	C	1: 10,160,516 (GRCm39)	S572P	possibly damaging	Het
Cysltr2	T	C	14: 73,267,111 (GRCm39)	T200A	possibly damaging	Het
Dglucy	T	C	12: 100,804,821 (GRCm39)	L104P	probably damaging	Het
Dnah8	T	A	17: 30,960,289 (GRCm39)	M2222K	probably damaging	Het
Dync2h1	C	A	9: 7,041,641 (GRCm39)	V3334F	probably benign	Het
Ear2	A	T	14: 44,340,734 (GRCm39)	T131S	possibly damaging	Het
Eef1akmt2	A	T	7: 132,452,340 (GRCm39)	V92D	probably damaging	Het
Fam83c	T	A	2: 155,671,128 (GRCm39)	Q769L	probably benign	Het
Fanca	A	T	8: 124,014,867 (GRCm39)	C812S	probably benign	Het
Gm21663	T	G	5: 26,146,162 (GRCm39)	R50S	probably damaging	Het
Gm5591	T	G	7: 38,221,614 (GRCm39)	S152R	probably benign	Het
Gm6370	T	G	5: 146,430,626 (GRCm39)	D270E	probably damaging	Het
H2-T22	T	C	17: 36,352,835 (GRCm39)	I91V	probably benign	Het
Hdac5	T	C	11: 102,097,963 (GRCm39)	M61V	probably benign	Het
Hsd17b6	A	G	10: 127,829,492 (GRCm39)	S237P	possibly damaging	Het
Khk	T	A	5: 31,088,374 (GRCm39)	F294I	possibly damaging	Het
Klc1	G	A	12: 111,772,509 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,006,099 (GRCm39)	W143R	probably damaging	Het
Lmo2	T	C	2: 103,811,264 (GRCm39)	I171T	probably damaging	Het
Meis1	A	G	11: 18,835,587 (GRCm39)	S344P	probably benign	Het
Nf1	C	A	11: 79,281,119 (GRCm39)	R125S	possibly damaging	Het
Nrcam	A	G	12: 44,586,325 (GRCm39)	E105G	probably benign	Het
Nudt22	T	C	19: 6,972,638 (GRCm39)	D150G	possibly damaging	Het
Or14j8	T	C	17: 38,263,895 (GRCm39)	T7A	probably damaging	Het
Or5an1	A	G	19: 12,260,792 (GRCm39)	I127V	probably benign	Het
Or5b109	A	G	19: 13,211,836 (GRCm39)	Y74C	probably damaging	Het
Pclo	A	T	5: 14,763,778 (GRCm39)	R799*	probably null	Het
Pelp1	T	C	11: 70,292,789 (GRCm39)	N175S	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pik3r4	C	A	9: 105,559,394 (GRCm39)	S1162R	probably benign	Het
Pkd1l3	A	T	8: 110,341,255 (GRCm39)	N36I	unknown	Het
Pomk	T	A	8: 26,473,503 (GRCm39)	Y150F	possibly damaging	Het
Rdh11	T	A	12: 79,229,574 (GRCm39)	H233L	probably benign	Het
Rln1	A	T	19: 29,309,281 (GRCm39)	M166K	probably benign	Het
Rnf40	T	A	7: 127,191,834 (GRCm39)	L356Q	probably damaging	Het
Sin3b	G	T	8: 73,450,139 (GRCm39)	G19W	unknown	Het
Slc6a15	A	G	10: 103,240,176 (GRCm39)	R300G	probably damaging	Het
Sncaip	A	T	18: 53,027,910 (GRCm39)	K433M	probably damaging	Het
Tead2	A	T	7: 44,882,316 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,184,108 (GRCm39)	D63G	probably benign	Het
Tmem117	T	C	15: 94,992,248 (GRCm39)	F303L	probably damaging	Het
Tmem270	T	G	5: 134,930,650 (GRCm39)	T204P	probably damaging	Het
Trip12	A	G	1: 84,722,790 (GRCm39)	V1320A	probably damaging	Het
Ttc7b	A	G	12: 100,267,812 (GRCm39)	L843P	probably damaging	Het
Ttn	T	C	2: 76,543,041 (GRCm39)	Y33315C	probably damaging	Het
Ttn	A	G	2: 76,607,146 (GRCm39)	V17959A	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,095 (GRCm39)	V291A	probably damaging	Het
Ywhag	T	A	5: 135,939,998 (GRCm39)	T199S	probably benign	Het
Zfp810	T	C	9: 22,190,571 (GRCm39)	T77A	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
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'- GTGCATCACTCTGGCATGCTAG -3'
(R):5'- TCTTAGCACGCAGGCCTAAC -3'

Sequencing Primer
(F):5'- CATCACTCTGGCATGCTAGTGTTTG -3'
(R):5'- TAACCCTGGTCCAATAGGCAGG -3'

Posted On

2021-04-30