Incidental Mutation 'R7977:Acsl5'
ID 650998
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 046020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7977 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 55240298-55285060 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 55266405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000224337] [ENSMUST00000225551] [ENSMUST00000225963] [ENSMUST00000226103]
AlphaFold Q8JZR0
Predicted Effect probably null
Transcript: ENSMUST00000043150
SMART Domains Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:AMP-binding 82 548 2.7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224337
Predicted Effect probably null
Transcript: ENSMUST00000225454
Predicted Effect probably null
Transcript: ENSMUST00000225551
Predicted Effect probably benign
Transcript: ENSMUST00000225963
Predicted Effect probably benign
Transcript: ENSMUST00000226103
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik G T 2: 32,464,317 (GRCm39) Q161K unknown Het
Adgre1 T A 17: 57,754,987 (GRCm39) I695N possibly damaging Het
Ank2 T C 3: 126,739,356 (GRCm39) D2176G unknown Het
Atp6v0a2 G A 5: 124,797,050 (GRCm39) G810D probably damaging Het
Bod1l A C 5: 41,952,413 (GRCm39) N2868K probably damaging Het
Brd7 T C 8: 89,060,769 (GRCm39) T526A probably benign Het
C9 T A 15: 6,496,943 (GRCm39) Y213* probably null Het
Card6 T A 15: 5,130,007 (GRCm39) N463I probably damaging Het
Ccdc81 T C 7: 89,525,319 (GRCm39) Y485C probably damaging Het
Celsr1 A G 15: 85,917,194 (GRCm39) F260L probably damaging Het
Dnah8 A G 17: 30,963,498 (GRCm39) D2304G probably damaging Het
Dnase1 A G 16: 3,855,834 (GRCm39) D55G probably damaging Het
Ecsit C A 9: 21,984,780 (GRCm39) R296L probably damaging Het
Entpd8 A G 2: 24,974,778 (GRCm39) D403G probably damaging Het
Epha2 C A 4: 141,035,791 (GRCm39) Q76K probably damaging Het
Exoc1 T A 5: 76,691,432 (GRCm39) V252E probably damaging Het
Fmnl3 T A 15: 99,225,979 (GRCm39) H225L possibly damaging Het
Gm4565 A C 7: 22,282,812 (GRCm39) M2R probably benign Het
Gpr146 G T 5: 139,378,440 (GRCm39) A81S possibly damaging Het
Heg1 C A 16: 33,541,100 (GRCm39) S419* probably null Het
Hps5 A C 7: 46,418,475 (GRCm39) I865S probably benign Het
Hsp90ab1 A C 17: 45,882,532 (GRCm39) I54S probably damaging Het
Hyal4 T G 6: 24,763,865 (GRCm39) M342R probably damaging Het
Itgal A G 7: 126,927,470 (GRCm39) T987A possibly damaging Het
Kat6b A G 14: 21,719,931 (GRCm39) T1428A probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lmtk2 A G 5: 144,111,959 (GRCm39) D893G probably benign Het
Myo3b A G 2: 70,161,277 (GRCm39) T1174A probably benign Het
Naf1 CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA 8: 67,313,146 (GRCm39) probably benign Het
Nsun5 G A 5: 135,404,534 (GRCm39) R424H probably damaging Het
Oacyl A G 18: 65,831,462 (GRCm39) E33G probably benign Het
Or6c66 T C 10: 129,461,838 (GRCm39) I31V probably benign Het
Or7d10 T C 9: 19,831,610 (GRCm39) F35S possibly damaging Het
Palm C T 10: 79,629,539 (GRCm39) probably benign Het
Papln A G 12: 83,822,156 (GRCm39) E337G probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Setd1b A G 5: 123,285,743 (GRCm39) D263G unknown Het
Slc10a7 T A 8: 79,423,843 (GRCm39) F202I probably benign Het
Smpd3 T C 8: 106,986,526 (GRCm39) I455V probably benign Het
Snip1 G T 4: 124,960,732 (GRCm39) G63W probably damaging Het
Sorl1 T A 9: 41,888,857 (GRCm39) Y1981F probably damaging Het
Tagln2 A G 1: 172,332,820 (GRCm39) T36A probably benign Het
Tnxb T C 17: 34,929,194 (GRCm39) S2746P possibly damaging Het
Tob2 G A 15: 81,735,681 (GRCm39) P96L probably damaging Het
Triobp T A 15: 78,885,744 (GRCm39) Y1816N probably damaging Het
Trpc3 A G 3: 36,698,318 (GRCm39) I647T probably benign Het
Ttn A G 2: 76,721,905 (GRCm39) S6600P unknown Het
Vmn1r200 A T 13: 22,580,025 (GRCm39) Y276F possibly damaging Het
Vmn1r230 T C 17: 21,067,159 (GRCm39) I116T probably benign Het
Vmn1r26 A T 6: 57,985,264 (GRCm39) Y308* probably null Het
Vmn2r16 C T 5: 109,488,015 (GRCm39) T296I probably damaging Het
Wdfy2 A G 14: 63,189,380 (GRCm39) D283G possibly damaging 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
R7293:Acsl5 UTSW 19 55,279,642 (GRCm39) missense probably damaging 0.98
R7543:Acsl5 UTSW 19 55,266,615 (GRCm39) missense
R7728:Acsl5 UTSW 19 55,276,285 (GRCm39) nonsense 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'- TCATGGACCCCAGAGAAATTCAG -3'
(R):5'- GTACCTCTGGCCTATTTTGAGC -3'

Sequencing Primer
(F):5'- GGACCCCAGAGAAATTCAGATTCTTG -3'
(R):5'- CCTCTGGCCTATTTTGAGCAAAGATG -3'
Posted On 2020-09-15