Incidental Mutation 'R7293:Acsl5'
ID 566594
Institutional Source Beutler Lab
Gene Symbol Acsl5
Ensembl Gene ENSMUSG00000024981
Gene Name acyl-CoA synthetase long-chain family member 5
Synonyms Facl5, 1700030F05Rik
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7293 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 55240298-55285060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55279642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 460 (W460L)
Ref Sequence ENSEMBL: ENSMUSP00000046585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000225963] [ENSMUST00000226103]
AlphaFold Q8JZR0
Predicted Effect probably damaging
Transcript: ENSMUST00000043150
AA Change: W460L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: W460L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:AMP-binding 82 548 2.7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224414
Predicted Effect probably benign
Transcript: ENSMUST00000225963
Predicted Effect probably benign
Transcript: ENSMUST00000226103
Meta Mutation Damage Score 0.1573 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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 uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cc2d1b T C 4: 108,488,873 (GRCm39) F770L probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Copb1 A T 7: 113,818,837 (GRCm39) M827K probably damaging Het
Crocc C T 4: 140,770,867 (GRCm39) A351T probably benign Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Itgb2l A C 16: 96,227,996 (GRCm39) Y502* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pld1 C A 3: 28,141,435 (GRCm39) T666K probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Ulk4 T G 9: 121,084,190 (GRCm39) N427T probably damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Other mutations in Acsl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Acsl5 APN 19 55,261,265 (GRCm39) missense probably benign 0.02
IGL02792:Acsl5 APN 19 55,282,163 (GRCm39) critical splice donor site probably null
lyrebird UTSW 19 55,261,251 (GRCm39) nonsense probably null
paradise UTSW 19 55,266,615 (GRCm39) missense
sharkey UTSW 19 55,266,405 (GRCm39) critical splice donor site probably null
IGL02796:Acsl5 UTSW 19 55,266,601 (GRCm39) nonsense probably null
R0206:Acsl5 UTSW 19 55,269,001 (GRCm39) missense probably benign
R0400:Acsl5 UTSW 19 55,282,143 (GRCm39) missense probably damaging 0.99
R0418:Acsl5 UTSW 19 55,261,238 (GRCm39) missense probably benign 0.16
R0571:Acsl5 UTSW 19 55,277,343 (GRCm39) intron probably benign
R0626:Acsl5 UTSW 19 55,272,904 (GRCm39) missense probably benign 0.00
R0792:Acsl5 UTSW 19 55,268,924 (GRCm39) missense probably benign 0.01
R1144:Acsl5 UTSW 19 55,280,275 (GRCm39) missense probably damaging 1.00
R1477:Acsl5 UTSW 19 55,279,904 (GRCm39) missense probably benign 0.23
R1522:Acsl5 UTSW 19 55,268,924 (GRCm39) missense probably benign 0.01
R1927:Acsl5 UTSW 19 55,266,586 (GRCm39) missense probably benign 0.37
R2495:Acsl5 UTSW 19 55,282,031 (GRCm39) nonsense probably null
R4153:Acsl5 UTSW 19 55,269,895 (GRCm39) missense probably benign 0.23
R4570:Acsl5 UTSW 19 55,280,206 (GRCm39) missense probably damaging 0.99
R4721:Acsl5 UTSW 19 55,268,962 (GRCm39) missense probably benign 0.00
R4834:Acsl5 UTSW 19 55,268,991 (GRCm39) missense probably benign 0.00
R5270:Acsl5 UTSW 19 55,282,650 (GRCm39) missense possibly damaging 0.50
R5360:Acsl5 UTSW 19 55,279,592 (GRCm39) nonsense probably null
R5436:Acsl5 UTSW 19 55,267,997 (GRCm39) critical splice donor site probably null
R5458:Acsl5 UTSW 19 55,282,662 (GRCm39) missense probably damaging 1.00
R5479:Acsl5 UTSW 19 55,268,894 (GRCm39) missense probably damaging 1.00
R5812:Acsl5 UTSW 19 55,283,268 (GRCm39) missense probably benign 0.01
R6232:Acsl5 UTSW 19 55,268,933 (GRCm39) missense possibly damaging 0.69
R6821:Acsl5 UTSW 19 55,277,268 (GRCm39) missense probably benign 0.03
R6874:Acsl5 UTSW 19 55,280,295 (GRCm39) missense probably damaging 1.00
R7030:Acsl5 UTSW 19 55,261,251 (GRCm39) nonsense probably null
R7156:Acsl5 UTSW 19 55,257,260 (GRCm39) splice site probably null
R7543:Acsl5 UTSW 19 55,266,615 (GRCm39) missense
R7728:Acsl5 UTSW 19 55,276,285 (GRCm39) nonsense probably null
R7977:Acsl5 UTSW 19 55,266,405 (GRCm39) critical splice donor site probably null
R7987:Acsl5 UTSW 19 55,266,405 (GRCm39) critical splice donor site probably null
R8017:Acsl5 UTSW 19 55,257,228 (GRCm39) missense probably benign
R8221:Acsl5 UTSW 19 55,257,262 (GRCm39) critical splice donor site probably null
R8527:Acsl5 UTSW 19 55,280,259 (GRCm39) missense probably damaging 1.00
R8542:Acsl5 UTSW 19 55,280,259 (GRCm39) missense probably damaging 1.00
R8869:Acsl5 UTSW 19 55,266,523 (GRCm39) missense possibly damaging 0.82
R9000:Acsl5 UTSW 19 55,283,943 (GRCm39) makesense probably null
R9105:Acsl5 UTSW 19 55,269,002 (GRCm39) missense probably benign 0.02
R9136:Acsl5 UTSW 19 55,266,400 (GRCm39) missense probably benign 0.24
R9502:Acsl5 UTSW 19 55,271,744 (GRCm39) missense probably benign
R9608:Acsl5 UTSW 19 55,272,884 (GRCm39) missense probably damaging 1.00
X0013:Acsl5 UTSW 19 55,282,096 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGAACTAGCAGCTGGGC -3'
(R):5'- ATTCAGGGCTAAGCAACCC -3'

Sequencing Primer
(F):5'- GCATGCCTTTGAGGTTTTGCAAAAC -3'
(R):5'- CCTAGAGCAAGCACGTTTCTAAGATG -3'
Posted On 2019-06-26