Incidental Mutation 'R9267:Acsl3'
ID 702576
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R9267 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 78635600-78685462 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78674623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 390 (I390S)
Ref Sequence ENSEMBL: ENSMUSP00000045291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000134566] [ENSMUST00000142704]
AlphaFold Q9CZW4
Predicted Effect probably damaging
Transcript: ENSMUST00000035779
AA Change: I390S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883
AA Change: I390S

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: I238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883
AA Change: I238S

DomainStartEndE-ValueType
Pfam:AMP-binding 1 435 4.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142704
AA Change: I390S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883
AA Change: I390S

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 113 587 2.5e-106 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (79/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,869,657 (GRCm39) probably benign Het
Abcd2 T A 15: 91,063,423 (GRCm39) T422S possibly damaging Het
Adad1 T A 3: 37,139,074 (GRCm39) probably benign Het
Adam3 A G 8: 25,171,605 (GRCm39) V742A probably benign Het
Adgra3 A T 5: 50,155,618 (GRCm39) I450K possibly damaging Het
Adgrb2 T C 4: 129,885,901 (GRCm39) S14P possibly damaging Het
Arfgef3 T A 10: 18,475,028 (GRCm39) I1553F probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc27 A G 4: 154,117,441 (GRCm39) L502P probably damaging Het
Ccdc50 T A 16: 27,208,700 (GRCm39) L5Q Het
Cdh16 C T 8: 105,341,834 (GRCm39) G777D probably damaging Het
Cntn2 C A 1: 132,449,021 (GRCm39) V663L probably benign Het
Cpne4 T A 9: 104,884,833 (GRCm39) V343E probably damaging Het
Dctpp1 A T 7: 126,856,275 (GRCm39) I149N probably benign Het
Dlg5 T C 14: 24,204,745 (GRCm39) N1266S probably damaging Het
Dst A G 1: 34,232,145 (GRCm39) D3246G probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Erbin T C 13: 103,987,292 (GRCm39) T423A probably damaging Het
Erich5 C T 15: 34,471,563 (GRCm39) P264L possibly damaging Het
Fam90a1a A G 8: 22,453,091 (GRCm39) M149V probably benign Het
Fbxl18 C T 5: 142,880,870 (GRCm39) G62R possibly damaging Het
Fech A G 18: 64,591,267 (GRCm39) S386P possibly damaging Het
Fhl3 T A 4: 124,601,498 (GRCm39) probably null Het
Fkbp5 A G 17: 28,629,558 (GRCm39) S256P probably benign Het
Frem2 A G 3: 53,564,504 (GRCm39) M1T probably null Het
Galnt5 T C 2: 57,925,220 (GRCm39) F834L possibly damaging Het
Gm3618 G T 14: 17,502,588 (GRCm39) T99N unknown Het
Gm9195 T A 14: 72,700,546 (GRCm39) Q1127L possibly damaging Het
Gpsm1 A G 2: 26,236,835 (GRCm39) D643G probably damaging Het
Grm4 A G 17: 27,654,183 (GRCm39) V589A possibly damaging Het
Gskip T A 12: 105,665,052 (GRCm39) F30L probably benign Het
Haus3 T A 5: 34,311,452 (GRCm39) probably null Het
Heatr1 T C 13: 12,421,489 (GRCm39) F463S probably damaging Het
Hmcn1 G A 1: 150,473,740 (GRCm39) S4851F probably benign Het
Il16 A C 7: 83,371,757 (GRCm39) F16L probably benign Het
Itga1 C A 13: 115,185,924 (GRCm39) C26F possibly damaging Het
Itga6 A G 2: 71,668,756 (GRCm39) E565G probably benign Het
Itgb4 A G 11: 115,870,465 (GRCm39) H98R probably benign Het
Kidins220 T A 12: 25,038,558 (GRCm39) S37T probably benign Het
Lrrc37 A T 11: 103,495,406 (GRCm39) D2804E unknown Het
Lrrk2 C T 15: 91,584,629 (GRCm39) L349F probably damaging Het
Malrd1 T G 2: 16,260,077 (GRCm39) I2099S unknown Het
Mapk8ip1 A G 2: 92,216,714 (GRCm39) I492T possibly damaging Het
Mest T A 6: 30,742,141 (GRCm39) D68E Het
Mthfd1l A G 10: 3,934,154 (GRCm39) D162G probably benign Het
Nalcn A T 14: 123,518,567 (GRCm39) D1657E probably benign Het
Nbeal2 C A 9: 110,462,115 (GRCm39) V1475F probably damaging Het
Nf1 C A 11: 79,331,716 (GRCm39) Q684K possibly damaging Het
Opn5 T A 17: 42,903,793 (GRCm39) T181S probably damaging Het
Or10ag54 T C 2: 87,099,326 (GRCm39) L67P possibly damaging Het
Or1j19 A T 2: 36,676,530 (GRCm39) probably benign Het
Or7a38 A G 10: 78,752,803 (GRCm39) N43S probably damaging Het
Or9s15 A T 1: 92,524,994 (GRCm39) H251L probably damaging Het
Or9s15 A T 1: 92,524,996 (GRCm39) M252L probably benign Het
Orc4 T A 2: 48,827,534 (GRCm39) R20* probably null Het
Pik3ca T C 3: 32,492,211 (GRCm39) Y270H probably damaging Het
Pkn2 T C 3: 142,517,676 (GRCm39) E474G probably null Het
Pnma8b A T 7: 16,679,159 (GRCm39) N48Y unknown Het
Pnpla2 A C 7: 141,036,503 (GRCm39) probably benign Het
Polr1a G A 6: 71,942,542 (GRCm39) M1127I probably benign Het
Ptpre A C 7: 135,274,549 (GRCm39) D507A probably damaging Het
Rab3gap2 T C 1: 184,983,331 (GRCm39) V490A probably damaging Het
Rab44 A T 17: 29,354,338 (GRCm39) probably benign Het
Rchy1 G T 5: 92,105,831 (GRCm39) T39N probably benign Het
Ripor1 A G 8: 106,348,063 (GRCm39) D1146G unknown Het
Sh3yl1 A T 12: 30,972,335 (GRCm39) I35F possibly damaging Het
Slc22a5 A G 11: 53,764,619 (GRCm39) F276L probably benign Het
Slc8a3 T A 12: 81,361,208 (GRCm39) D537V possibly damaging Het
Smc4 T A 3: 68,941,786 (GRCm39) I1263N probably damaging Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Stam2 A T 2: 52,604,903 (GRCm39) Y211N probably damaging Het
Stxbp1 A G 2: 32,708,517 (GRCm39) S83P probably damaging Het
Susd4 T C 1: 182,716,389 (GRCm39) F325L probably benign Het
Tmem245 A G 4: 56,947,236 (GRCm39) V59A probably benign Het
Tnk2 A G 16: 32,494,489 (GRCm39) D469G probably damaging Het
Tpx2 A G 2: 152,732,517 (GRCm39) D597G probably damaging Het
Ube2w A T 1: 16,612,011 (GRCm39) S170R Het
Vmn2r102 A T 17: 19,896,928 (GRCm39) I92F probably damaging Het
Vmn2r11 T A 5: 109,199,929 (GRCm39) E508V possibly damaging Het
Vmn2r30 T A 7: 7,340,432 (GRCm39) I21F possibly damaging Het
Yipf2 G A 9: 21,501,489 (GRCm39) T187M possibly damaging Het
Zbtb8a T A 4: 129,248,267 (GRCm39) K335* probably null Het
Zfp609 T C 9: 65,608,328 (GRCm39) D1184G possibly 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
R2083:Acsl3 UTSW 1 78,677,528 (GRCm39) missense probably damaging 0.99
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
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
(F):5'- ATGGGGTGGTAATAGCACTTTC -3'
(R):5'- CCTGGGCTGTTGATTTGAAC -3'

Sequencing Primer
(F):5'- ATATCTTGCCAGTGAGGTCAC -3'
(R):5'- GATTTGAACTCTGTCATTGACACAG -3'
Posted On 2022-03-25