Incidental Mutation 'IGL02796:Acsl5'
ID 392050
Institutional Source Beutler Lab
Gene Symbol Acsl5
Ensembl Gene ENSMUSG00000024981
Gene Name acyl-CoA synthetase long-chain family member 5
Synonyms Facl5, 1700030F05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02796 (G1)
Quality Score 215
Status Validated
Chromosome 19
Chromosomal Location 55240298-55285060 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 55266601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 86 (K86*)
Ref Sequence ENSEMBL: ENSMUSP00000153474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000224337] [ENSMUST00000225551] [ENSMUST00000225963] [ENSMUST00000226103]
AlphaFold Q8JZR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043150
AA Change: Q140L

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: Q140L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:AMP-binding 82 548 2.7e-112 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000224337
AA Change: K86*
Predicted Effect unknown
Transcript: ENSMUST00000225454
AA Change: Q54L
Predicted Effect probably benign
Transcript: ENSMUST00000225551
Predicted Effect probably benign
Transcript: ENSMUST00000225963
Predicted Effect probably benign
Transcript: ENSMUST00000226103
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambp C A 4: 63,072,169 (GRCm39) probably benign Het
Atp6v0d2 A T 4: 19,887,324 (GRCm39) M208K probably damaging Het
Brinp1 C G 4: 68,680,427 (GRCm39) R701P probably damaging Het
Btnl9 T C 11: 49,060,008 (GRCm39) D580G probably damaging Het
Cand1 A T 10: 119,049,543 (GRCm39) L401H probably damaging Het
Ccdc66 T C 14: 27,208,523 (GRCm39) E577G possibly damaging Het
Ccdc93 C A 1: 121,418,895 (GRCm39) D483E probably damaging Het
Cd38 T C 5: 44,063,555 (GRCm39) L216P probably damaging Het
Cdr1 C T X: 60,228,087 (GRCm39) D360N possibly damaging Het
Cibar2 C T 8: 120,904,138 (GRCm39) probably benign Het
Col9a3 G T 2: 180,255,955 (GRCm39) D443Y probably damaging Het
Cpt1b C T 15: 89,309,005 (GRCm39) V66I probably benign Het
Cyp8b1 T A 9: 121,744,564 (GRCm39) Y256F probably benign Het
Dennd10 A G 19: 60,806,081 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,757,385 (GRCm39) N48S probably benign Het
Ehd3 T A 17: 74,123,396 (GRCm39) L133Q probably damaging Het
Eif6 C A 2: 155,668,068 (GRCm39) R57L probably damaging Het
Fcgbp T A 7: 27,800,576 (GRCm39) probably benign Het
Fgl1 C T 8: 41,650,095 (GRCm39) A229T probably benign Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Gdf7 A T 12: 8,351,666 (GRCm39) S90T unknown Het
Ggta1 T C 2: 35,303,329 (GRCm39) probably benign Het
Gm44859 C T 19: 12,014,112 (GRCm39) probably benign Het
Grin2a T C 16: 9,402,972 (GRCm39) E838G possibly damaging Het
Grin2c A G 11: 115,141,543 (GRCm39) probably benign Het
Grm1 T C 10: 10,565,411 (GRCm39) T966A probably benign Het
Gtpbp1 A G 15: 79,601,186 (GRCm39) I468M possibly damaging Het
Gucy1b2 G A 14: 62,645,143 (GRCm39) P639S probably benign Het
Hat1 T C 2: 71,250,700 (GRCm39) probably null Het
Hira A T 16: 18,744,404 (GRCm39) I374F probably benign Het
Htt C A 5: 35,034,826 (GRCm39) Q2024K probably benign Het
Kcnj6 A G 16: 94,633,778 (GRCm39) M111T probably benign Het
Loxhd1 T A 18: 77,456,811 (GRCm39) probably benign Het
Lrif1 T A 3: 106,642,752 (GRCm39) M619K probably benign Het
Lrrc8b G A 5: 105,629,211 (GRCm39) G519D probably damaging Het
Map3k7 A G 4: 31,979,692 (GRCm39) probably benign Het
Or2ah1 T C 2: 85,653,933 (GRCm39) I206T probably benign Het
Or4d6 T A 19: 12,086,248 (GRCm39) I221F possibly damaging Het
P2ry12 T C 3: 59,125,302 (GRCm39) I124M probably damaging Het
Paxbp1 A G 16: 90,822,182 (GRCm39) probably benign Het
Polb A T 8: 23,121,474 (GRCm39) I257N probably damaging Het
Psg27 A T 7: 18,295,875 (GRCm39) V190E probably benign Het
Rabgap1 T A 2: 37,362,318 (GRCm39) N54K probably damaging Het
Sacm1l T A 9: 123,377,989 (GRCm39) W90R possibly damaging Het
Snrpb2 A T 2: 142,906,487 (GRCm39) M1L probably benign Het
Spata31d1d A G 13: 59,876,057 (GRCm39) Y493H possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spocd1 A G 4: 129,841,548 (GRCm39) probably benign Het
Tbc1d5 G T 17: 51,273,652 (GRCm39) H123Q probably damaging Het
Ttn T C 2: 76,608,445 (GRCm39) N17826S probably damaging Het
Tubgcp6 A G 15: 89,006,593 (GRCm39) I143T probably benign Het
Usp48 A G 4: 137,338,029 (GRCm39) Y268C probably damaging Het
Zfhx4 G A 3: 5,464,599 (GRCm39) V1586M probably damaging Het
Zfp146 C T 7: 29,861,983 (GRCm39) V20I probably benign Het
Zfp263 G A 16: 3,564,740 (GRCm39) E252K 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
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
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'- AGACAATGGGCCTTGCTTGG -3'
(R):5'- TCAGCAGAGATTTAAGGAGGCTC -3'

Sequencing Primer
(F):5'- CCTTGCTTGGGATACAGAAAGCC -3'
(R):5'- TCGGAAGCCCAGCTCTTTTGG -3'
Posted On 2016-06-08