Incidental Mutation 'R2083:Acsl3'
ID 230120
Institutional Source Beutler Lab
Gene Symbol Acsl3
Ensembl Gene ENSMUSG00000032883
Gene Name acyl-CoA synthetase long-chain family member 3
Synonyms C85929, 2610510B12Rik, Facl3
MMRRC Submission 040088-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R2083 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 78635600-78685462 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78677528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 507 (K507N)
Ref Sequence ENSEMBL: ENSMUSP00000121695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000134566] [ENSMUST00000142704]
AlphaFold Q9CZW4
Predicted Effect probably damaging
Transcript: ENSMUST00000035779
AA Change: K507N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883
AA Change: K507N

transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 113 587 2e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134566
AA Change: K355N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883
AA Change: K355N

Pfam:AMP-binding 1 435 4.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142704
AA Change: K507N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883
AA Change: K507N

transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 113 587 2.5e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154777
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice exhibit decreased blood percentages of CD4 T cells and B cells, and a decreased IgG1 response to ovalbumin. Male mutant mice exhibit growth retardation, reduced size and reduced total tissue and lean body mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T A 5: 146,121,681 (GRCm39) M73L possibly damaging Het
AA986860 A T 1: 130,668,806 (GRCm39) I58F probably damaging Het
Adcy3 T C 12: 4,223,512 (GRCm39) Y245H probably damaging Het
Adgra1 T C 7: 139,455,547 (GRCm39) S392P probably damaging Het
Ahnak C T 19: 8,988,921 (GRCm39) P3402S probably damaging Het
Ambra1 T A 2: 91,596,945 (GRCm39) I12N possibly damaging Het
Atp10b A G 11: 43,103,250 (GRCm39) T545A probably benign Het
Atxn2 G T 5: 121,922,069 (GRCm39) A638S probably benign Het
Cd109 T C 9: 78,574,575 (GRCm39) S520P probably damaging Het
Col6a3 T C 1: 90,709,733 (GRCm39) D1821G unknown Het
Cyp4a10 T C 4: 115,382,505 (GRCm39) V265A possibly damaging Het
Dmrtb1 C T 4: 107,540,809 (GRCm39) R184Q possibly damaging Het
Dnah7b A T 1: 46,280,227 (GRCm39) I2719F possibly damaging Het
En2 T C 5: 28,372,071 (GRCm39) S183P probably damaging Het
Etfb A G 7: 43,105,924 (GRCm39) T101A probably benign Het
Etl4 T A 2: 20,748,360 (GRCm39) S364T probably damaging Het
Gm17728 C A 17: 9,641,121 (GRCm39) S77Y possibly damaging Het
Golga4 A G 9: 118,361,658 (GRCm39) E221G probably damaging Het
Gpr37 T C 6: 25,688,416 (GRCm39) N227S possibly damaging Het
Insyn2b A G 11: 34,352,141 (GRCm39) D61G probably benign Het
Kctd1 A T 18: 15,107,112 (GRCm39) N784K possibly damaging Het
Klhl22 A G 16: 17,594,389 (GRCm39) T173A probably benign Het
Ly6e T A 15: 74,830,168 (GRCm39) C41S probably damaging Het
Mapkbp1 T C 2: 119,845,963 (GRCm39) L444P possibly damaging Het
Mkx A T 18: 6,992,855 (GRCm39) I143K probably damaging Het
Mlh3 A G 12: 85,315,815 (GRCm39) F124L probably benign Het
Nlrp1a A T 11: 71,015,046 (GRCm39) L68H possibly damaging Het
Obscn A C 11: 58,964,457 (GRCm39) Y726* probably null Het
Or4f59 C T 2: 111,872,898 (GRCm39) V160I probably benign Het
Or8d1 T G 9: 38,766,637 (GRCm39) V93G probably benign Het
Peak1 G A 9: 56,166,233 (GRCm39) S565L probably damaging Het
Pter T A 2: 12,983,247 (GRCm39) L84Q probably damaging Het
Ptpn4 A G 1: 119,615,489 (GRCm39) L555P possibly damaging Het
Rpp40 A T 13: 36,082,975 (GRCm39) M171K probably benign Het
Sacs A G 14: 61,443,955 (GRCm39) I2000M possibly damaging Het
Scn5a T C 9: 119,321,189 (GRCm39) I1458V probably benign Het
Slc38a4 T C 15: 96,906,874 (GRCm39) D288G probably benign Het
Slc8a2 T G 7: 15,868,440 (GRCm39) V224G probably damaging Het
Sptbn4 T C 7: 27,127,681 (GRCm39) E173G probably benign Het
Tas1r1 T A 4: 152,112,848 (GRCm39) H735L probably benign Het
Trps1 G T 15: 50,685,701 (GRCm39) Q155K probably damaging Het
Tspyl5 T C 15: 33,686,892 (GRCm39) H351R probably damaging Het
Ttf2 A T 3: 100,876,817 (GRCm39) D21E probably benign Het
Ttll7 A G 3: 146,635,859 (GRCm39) R398G possibly damaging Het
Tubgcp6 A T 15: 89,006,579 (GRCm39) Y148N probably damaging Het
Vmn1r8 T A 6: 57,013,325 (GRCm39) H125Q probably benign Het
Zfhx4 A G 3: 5,468,223 (GRCm39) T2794A possibly damaging Het
Zfp27 T C 7: 29,594,208 (GRCm39) I586V probably benign Het
Zfyve16 T C 13: 92,660,770 (GRCm39) D13G probably damaging Het
Other mutations in Acsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Acsl3 APN 1 78,677,476 (GRCm39) missense possibly damaging 0.79
IGL02201:Acsl3 APN 1 78,676,870 (GRCm39) missense probably damaging 1.00
IGL03162:Acsl3 APN 1 78,676,887 (GRCm39) critical splice donor site probably null
R0601:Acsl3 UTSW 1 78,673,896 (GRCm39) missense probably damaging 1.00
R0658:Acsl3 UTSW 1 78,679,004 (GRCm39) missense probably damaging 1.00
R1389:Acsl3 UTSW 1 78,665,999 (GRCm39) missense probably benign
R1468:Acsl3 UTSW 1 78,684,126 (GRCm39) missense probably benign 0.03
R1468:Acsl3 UTSW 1 78,684,126 (GRCm39) missense probably benign 0.03
R1697:Acsl3 UTSW 1 78,683,114 (GRCm39) splice site probably benign
R2125:Acsl3 UTSW 1 78,659,678 (GRCm39) missense probably damaging 0.97
R2191:Acsl3 UTSW 1 78,676,857 (GRCm39) missense probably damaging 1.00
R2299:Acsl3 UTSW 1 78,676,827 (GRCm39) missense probably damaging 1.00
R2395:Acsl3 UTSW 1 78,683,085 (GRCm39) missense probably benign 0.00
R2964:Acsl3 UTSW 1 78,672,011 (GRCm39) missense probably benign 0.01
R3403:Acsl3 UTSW 1 78,673,839 (GRCm39) missense probably damaging 1.00
R4655:Acsl3 UTSW 1 78,668,063 (GRCm39) missense probably damaging 1.00
R5537:Acsl3 UTSW 1 78,684,073 (GRCm39) missense probably damaging 1.00
R5823:Acsl3 UTSW 1 78,666,003 (GRCm39) missense probably benign
R6239:Acsl3 UTSW 1 78,674,182 (GRCm39) missense probably benign 0.00
R6376:Acsl3 UTSW 1 78,674,182 (GRCm39) missense possibly damaging 0.81
R6650:Acsl3 UTSW 1 78,659,639 (GRCm39) missense probably benign 0.03
R7031:Acsl3 UTSW 1 78,666,000 (GRCm39) missense probably benign
R7282:Acsl3 UTSW 1 78,659,709 (GRCm39) missense probably damaging 0.97
R7733:Acsl3 UTSW 1 78,665,953 (GRCm39) critical splice acceptor site probably null
R7891:Acsl3 UTSW 1 78,681,305 (GRCm39) missense probably benign 0.02
R7998:Acsl3 UTSW 1 78,671,988 (GRCm39) missense probably damaging 1.00
R8056:Acsl3 UTSW 1 78,659,611 (GRCm39) missense probably damaging 1.00
R8083:Acsl3 UTSW 1 78,669,844 (GRCm39) missense probably damaging 1.00
R8084:Acsl3 UTSW 1 78,669,844 (GRCm39) missense probably damaging 1.00
R8135:Acsl3 UTSW 1 78,674,712 (GRCm39) missense probably benign 0.00
R8982:Acsl3 UTSW 1 78,677,485 (GRCm39) missense probably benign 0.00
R9267:Acsl3 UTSW 1 78,674,623 (GRCm39) missense probably damaging 1.00
R9380:Acsl3 UTSW 1 78,659,602 (GRCm39) missense possibly damaging 0.47
X0025:Acsl3 UTSW 1 78,669,919 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-18