Incidental Mutation 'R2035:Acsl1'
ID 224481
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 040042-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R2035 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 46924074-46989088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46981621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 456 (Y456C)
Ref Sequence ENSEMBL: ENSMUSP00000106000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034046] [ENSMUST00000110371] [ENSMUST00000110372]
AlphaFold P41216
Predicted Effect probably damaging
Transcript: ENSMUST00000034046
AA Change: Y456C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: Y456C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000110371
AA Change: Y456C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: Y456C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000110372
AA Change: Y456C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: Y456C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1lci__ 2 65 2e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210929
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,760,761 (GRCm39) *1273Q probably null Het
Aars2 A G 17: 45,825,727 (GRCm39) I348V possibly damaging Het
Abca8b G A 11: 109,847,932 (GRCm39) R788C possibly damaging Het
Abhd15 T C 11: 77,406,536 (GRCm39) L171P probably damaging Het
Abi3bp A T 16: 56,480,581 (GRCm39) H686L probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l T A 3: 88,973,624 (GRCm39) V2561D probably benign Het
B3galnt2 T A 13: 14,140,909 (GRCm39) F44I probably benign Het
Bicra A T 7: 15,730,338 (GRCm39) H24Q possibly damaging Het
Ccdc163 T C 4: 116,568,530 (GRCm39) S195P probably damaging Het
Cd163 A T 6: 124,297,588 (GRCm39) K911N probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Dctn4 T A 18: 60,671,489 (GRCm39) D120E possibly damaging Het
Dnali1 C T 4: 124,952,903 (GRCm39) V207M probably damaging Het
Dnhd1 A G 7: 105,354,128 (GRCm39) Q3036R probably damaging Het
Dst G A 1: 34,310,494 (GRCm39) R4098H probably damaging Het
Eml5 A T 12: 98,760,525 (GRCm39) N1741K probably benign Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Entr1 T A 2: 26,273,639 (GRCm39) S374C probably damaging Het
Ess2 A G 16: 17,727,950 (GRCm39) probably null Het
F8 ATCTCTCTC ATCTCTC X: 74,366,604 (GRCm39) probably null Het
Gm4841 T G 18: 60,402,929 (GRCm39) Y388S probably benign Het
Grin3a T C 4: 49,771,336 (GRCm39) T479A probably damaging Het
Gucy2e C A 11: 69,118,358 (GRCm39) V743L probably benign Het
Il33 T A 19: 29,932,037 (GRCm39) N143K probably damaging Het
Ism1 T A 2: 139,599,075 (GRCm39) S349R probably damaging Het
Itgb2 T A 10: 77,383,033 (GRCm39) D134E probably damaging Het
Kcnk1 A C 8: 126,752,108 (GRCm39) N238T possibly damaging Het
Kcnu1 G T 8: 26,386,721 (GRCm39) V535L probably benign Het
Muc19 T A 15: 91,776,599 (GRCm39) noncoding transcript Het
Mycbp2 A T 14: 103,497,675 (GRCm39) Y966N probably damaging Het
Myo19 A T 11: 84,788,434 (GRCm39) M349L probably benign Het
Narf G A 11: 121,129,326 (GRCm39) A37T probably benign Het
Ncapd2 T C 6: 125,161,491 (GRCm39) N208D probably benign Het
Nr1i2 A G 16: 38,071,488 (GRCm39) probably null Het
Opn5 A G 17: 42,918,052 (GRCm39) I70T probably damaging Het
Or52e19 T A 7: 102,959,463 (GRCm39) H178Q probably damaging Het
Or7a38 T C 10: 78,753,421 (GRCm39) V249A possibly damaging Het
Pkn2 G T 3: 142,526,348 (GRCm39) P410T probably damaging Het
Pla2r1 T C 2: 60,253,080 (GRCm39) N1337S probably damaging Het
Prkd3 A T 17: 79,282,802 (GRCm39) probably null Het
Pum2 T A 12: 8,778,638 (GRCm39) Y429* probably null Het
Resf1 G A 6: 149,230,724 (GRCm39) V1257I possibly damaging Het
Rttn T A 18: 89,038,340 (GRCm39) V812E probably damaging Het
Rufy2 T A 10: 62,842,526 (GRCm39) L483H probably damaging Het
Slc35a3 T A 3: 116,480,972 (GRCm39) Q97L probably damaging Het
St18 A T 1: 6,872,552 (GRCm39) M96L probably benign Het
Strc G A 2: 121,205,415 (GRCm39) A905V probably damaging Het
Syne3 T C 12: 104,924,386 (GRCm39) M338V probably benign Het
Syngr2 A G 11: 117,704,186 (GRCm39) D187G probably benign Het
Tas2r109 A C 6: 132,957,423 (GRCm39) I169R probably benign Het
Tbc1d22a T A 15: 86,275,266 (GRCm39) probably null Het
Thbs1 T A 2: 117,948,821 (GRCm39) probably null Het
Them6 C A 15: 74,593,524 (GRCm39) D127E probably damaging Het
Tmem132d T C 5: 127,869,522 (GRCm39) D604G probably damaging Het
Tnni1 A G 1: 135,733,330 (GRCm39) T51A probably benign Het
Topors T C 4: 40,262,879 (GRCm39) N135S probably damaging Het
Unc80 A T 1: 66,645,752 (GRCm39) D1476V probably damaging Het
Vmn1r17 A G 6: 57,337,573 (GRCm39) V264A probably benign Het
Vmn1r193 T A 13: 22,403,732 (GRCm39) T87S probably benign Het
Vmn1r202 C A 13: 22,685,772 (GRCm39) R215L probably damaging Het
Vmn2r24 A T 6: 123,793,019 (GRCm39) N782I probably damaging Het
Vmn2r53 A G 7: 12,332,438 (GRCm39) F404L possibly damaging Het
Xpo4 A T 14: 57,823,383 (GRCm39) C1036S possibly damaging Het
Yae1d1 T C 13: 18,164,306 (GRCm39) N104D probably benign Het
Zan C A 5: 137,442,209 (GRCm39) R1901L unknown Het
Zbtb9 G A 17: 27,193,897 (GRCm39) R434H probably damaging Het
Zdhhc23 A C 16: 43,793,871 (GRCm39) C268G probably damaging Het
Other mutations in Acsl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGAAGATGTTCAGAGTGCG -3'
(R):5'- TTGCTATGCAAGGAGGTTAATGAC -3'

Sequencing Primer
(F):5'- TCACTCTGTAGACCAAGCTGG -3'
(R):5'- ACCTAATCAATAACCAATCAGTTTCC -3'
Posted On 2014-08-25