Incidental Mutation 'IGL02201:Acsl3'
ID284206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsl3
Ensembl Gene ENSMUSG00000032883
Gene Nameacyl-CoA synthetase long-chain family member 3
Synonyms2610510B12Rik, Facl3, C85929
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.689) question?
Stock #IGL02201
Quality Score
Status
Chromosome1
Chromosomal Location78657825-78707743 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78699153 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 484 (G484R)
Ref Sequence ENSEMBL: ENSMUSP00000121695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000134566] [ENSMUST00000142704]
Predicted Effect probably damaging
Transcript: ENSMUST00000035779
AA Change: G484R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883
AA Change: G484R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 113 587 2e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134566
AA Change: G332R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883
AA Change: G332R

DomainStartEndE-ValueType
Pfam:AMP-binding 1 435 4.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142704
AA Change: G484R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883
AA Change: G484R

DomainStartEndE-ValueType
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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,420,550 probably benign Het
Akr1c14 A G 13: 4,081,022 D238G probably damaging Het
Ccdc88b T A 19: 6,846,631 D1418V probably damaging Het
Cnnm4 A T 1: 36,472,750 K353M probably damaging Het
Col6a6 A G 9: 105,780,995 F673L probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk1a A G 16: 94,692,149 E747G probably benign Het
Eml5 T A 12: 98,794,424 probably benign Het
Ercc6l2 A G 13: 63,852,969 N516D probably benign Het
Fbxl17 A G 17: 63,499,029 L330P probably damaging Het
Fgr A T 4: 132,994,924 Y168F probably damaging Het
Frem2 T G 3: 53,519,640 K2962N probably benign Het
Hdac4 G T 1: 91,987,660 probably null Het
Il1r1 A T 1: 40,313,268 N533Y probably damaging Het
Kcnab2 T C 4: 152,401,918 probably benign Het
Knl1 C T 2: 119,069,152 P445S probably benign Het
Lamb2 G A 9: 108,487,542 C1165Y probably damaging Het
Nisch C T 14: 31,187,094 probably benign Het
Olfr1097 A G 2: 86,891,076 L33P probably damaging Het
Olfr1357 C T 10: 78,612,270 V124M probably damaging Het
Olfr164 A T 16: 19,286,462 S94T probably benign Het
Olfr889 A G 9: 38,116,597 D267G probably benign Het
Pde3b T A 7: 114,534,608 M953K probably damaging Het
Pdzph1 A G 17: 58,967,511 probably benign Het
Plce1 T C 19: 38,769,446 probably benign Het
Prr23a3 G T 9: 98,865,244 V84L possibly damaging Het
Psg26 A G 7: 18,480,146 V197A probably benign Het
Ptpa T A 2: 30,446,377 C80S possibly damaging Het
Ripk4 A T 16: 97,755,177 V122E possibly damaging Het
Scd2 A G 19: 44,301,340 N258S probably damaging Het
Slc38a1 A T 15: 96,578,798 V394E probably damaging Het
Slc7a15 A G 12: 8,539,023 S175P possibly damaging Het
Tacc2 T A 7: 130,626,212 D1542E possibly damaging Het
Trim67 G T 8: 124,794,058 R53L probably benign Het
Urah A T 7: 140,835,663 T38S probably damaging Het
Vps13c A G 9: 67,967,136 S3362G probably damaging Het
Wwc1 T C 11: 35,844,151 probably benign Het
Zfyve28 T C 5: 34,243,205 T50A probably damaging Het
Other mutations in Acsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Acsl3 APN 1 78699759 missense possibly damaging 0.79
IGL03162:Acsl3 APN 1 78699170 critical splice donor site probably null
R0601:Acsl3 UTSW 1 78696179 missense probably damaging 1.00
R0658:Acsl3 UTSW 1 78701287 missense probably damaging 1.00
R1389:Acsl3 UTSW 1 78688282 missense probably benign
R1468:Acsl3 UTSW 1 78706409 missense probably benign 0.03
R1468:Acsl3 UTSW 1 78706409 missense probably benign 0.03
R1697:Acsl3 UTSW 1 78705397 splice site probably benign
R2083:Acsl3 UTSW 1 78699811 missense probably damaging 0.99
R2125:Acsl3 UTSW 1 78681961 missense probably damaging 0.97
R2191:Acsl3 UTSW 1 78699140 missense probably damaging 1.00
R2299:Acsl3 UTSW 1 78699110 missense probably damaging 1.00
R2395:Acsl3 UTSW 1 78705368 missense probably benign 0.00
R2964:Acsl3 UTSW 1 78694294 missense probably benign 0.01
R3403:Acsl3 UTSW 1 78696122 missense probably damaging 1.00
R4655:Acsl3 UTSW 1 78690346 missense probably damaging 1.00
R5537:Acsl3 UTSW 1 78706356 missense probably damaging 1.00
R5823:Acsl3 UTSW 1 78688286 missense probably benign
R6239:Acsl3 UTSW 1 78696465 missense probably benign 0.00
R6376:Acsl3 UTSW 1 78696465 missense possibly damaging 0.81
R6650:Acsl3 UTSW 1 78681922 missense probably benign 0.03
R7031:Acsl3 UTSW 1 78688283 missense probably benign
R7282:Acsl3 UTSW 1 78681992 missense probably damaging 0.97
R7733:Acsl3 UTSW 1 78688236 critical splice acceptor site probably null
R7891:Acsl3 UTSW 1 78703588 missense probably benign 0.02
R7974:Acsl3 UTSW 1 78703588 missense probably benign 0.02
R7998:Acsl3 UTSW 1 78694271 missense probably damaging 1.00
R8056:Acsl3 UTSW 1 78681894 missense probably damaging 1.00
X0025:Acsl3 UTSW 1 78692202 missense probably damaging 0.98
Posted On2015-04-16