Incidental Mutation 'R0400:Acsl5'
ID 38167
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 038605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0400 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 55240298-55285060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55282143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 573 (V573A)
Ref Sequence ENSEMBL: ENSMUSP00000046585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043150] [ENSMUST00000076891] [ENSMUST00000224897] [ENSMUST00000225495] [ENSMUST00000225963] [ENSMUST00000226103]
AlphaFold Q8JZR0
Predicted Effect probably damaging
Transcript: ENSMUST00000043150
AA Change: V573A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: V573A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:AMP-binding 82 548 2.7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076891
SMART Domains Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:zf-DHHC 94 244 3.2e-38 PFAM
SH3 316 397 5.84e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224414
Predicted Effect probably benign
Transcript: ENSMUST00000224897
Predicted Effect probably benign
Transcript: ENSMUST00000225495
Predicted Effect probably benign
Transcript: ENSMUST00000225963
Predicted Effect probably benign
Transcript: ENSMUST00000226103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226019
Meta Mutation Damage Score 0.7572 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,376,360 (GRCm39) H169L probably benign Het
9130230L23Rik T C 5: 66,147,699 (GRCm39) D28G unknown Het
Abca12 T A 1: 71,298,935 (GRCm39) probably benign Het
Agap1 A G 1: 89,770,972 (GRCm39) probably benign Het
Arid2 A G 15: 96,254,806 (GRCm39) probably benign Het
B430305J03Rik T A 3: 61,271,556 (GRCm39) probably benign Het
Brsk2 T C 7: 141,552,290 (GRCm39) L584P probably damaging Het
C2cd4c A G 10: 79,449,043 (GRCm39) Y35H probably damaging Het
Cacul1 A G 19: 60,551,591 (GRCm39) probably benign Het
Cers3 T C 7: 66,414,078 (GRCm39) V88A probably benign Het
Cnnm1 A T 19: 43,456,803 (GRCm39) H614L probably damaging Het
Col1a1 T A 11: 94,832,195 (GRCm39) probably benign Het
Cyp1b1 T A 17: 80,021,016 (GRCm39) D242V probably damaging Het
Cyp4a31 T C 4: 115,420,915 (GRCm39) M1T probably null Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Dclk2 A T 3: 86,721,054 (GRCm39) probably null Het
Dnah17 A G 11: 117,972,904 (GRCm39) S2010P probably damaging Het
Dram2 T C 3: 106,480,934 (GRCm39) L246P probably damaging Het
Dus2 A T 8: 106,775,309 (GRCm39) T279S probably benign Het
Epn2 T C 11: 61,423,522 (GRCm39) probably null Het
Esco2 C A 14: 66,069,155 (GRCm39) V52F possibly damaging Het
Fbp1 T A 13: 63,012,882 (GRCm39) T104S probably benign Het
Foxj2 A T 6: 122,810,767 (GRCm39) Q249L possibly damaging Het
Galnt7 T C 8: 58,037,023 (GRCm39) Y122C probably damaging Het
Gimd1 T C 3: 132,340,588 (GRCm39) Y35H probably benign Het
Gipc2 A G 3: 151,871,305 (GRCm39) F74L probably damaging Het
Glt1d1 T A 5: 127,734,139 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,290,141 (GRCm39) T2325A probably damaging Het
Iffo1 A G 6: 125,130,434 (GRCm39) K471R probably damaging Het
Ireb2 G A 9: 54,803,782 (GRCm39) R491H probably benign Het
Isg20 A G 7: 78,566,473 (GRCm39) N141D possibly damaging Het
Kmt5c G A 7: 4,749,243 (GRCm39) R100H probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrn4 A C 2: 132,719,940 (GRCm39) F287V probably benign Het
Maco1 T C 4: 134,555,427 (GRCm39) K349E probably benign Het
Mmrn1 A C 6: 60,954,099 (GRCm39) K793N probably benign Het
Muc16 A G 9: 18,421,830 (GRCm39) V8227A possibly damaging Het
Myh2 C T 11: 67,083,424 (GRCm39) probably benign Het
Nalcn T A 14: 123,528,372 (GRCm39) probably benign Het
Nfia T C 4: 97,951,373 (GRCm39) V400A probably damaging Het
Nxph4 T A 10: 127,362,127 (GRCm39) T255S possibly damaging Het
Olfm5 G A 7: 103,803,386 (GRCm39) T359I probably damaging Het
Or1e33 T C 11: 73,738,867 (GRCm39) Y28C probably benign Het
Or5t18 A G 2: 86,636,995 (GRCm39) M116T probably damaging Het
Or8b44 A G 9: 38,410,207 (GRCm39) M81V possibly damaging Het
Or8g21 G T 9: 38,906,494 (GRCm39) P79Q probably damaging Het
Pak5 T C 2: 135,939,499 (GRCm39) I545M possibly damaging Het
Pcdhb15 T C 18: 37,608,948 (GRCm39) F727L probably benign Het
Pds5b T A 5: 150,646,818 (GRCm39) N202K possibly damaging Het
Phlpp1 T A 1: 106,320,664 (GRCm39) I1553N probably benign Het
Pink1 T C 4: 138,045,229 (GRCm39) T282A probably damaging Het
Prdm2 A G 4: 142,838,240 (GRCm39) F1706S probably benign Het
Pycr1 G A 11: 120,532,352 (GRCm39) probably benign Het
Rigi A G 4: 40,235,257 (GRCm39) Y78H probably benign Het
Skint9 A G 4: 112,271,198 (GRCm39) S71P probably damaging Het
Smad1 A G 8: 80,098,399 (GRCm39) probably benign Het
Snapc5 A T 9: 64,087,789 (GRCm39) E33D probably damaging Het
Snrnp40 T C 4: 130,256,443 (GRCm39) L56P probably damaging Het
Stab2 A C 10: 86,708,474 (GRCm39) I1697S probably damaging Het
Tfap2a G T 13: 40,870,888 (GRCm39) probably benign Het
Tph2 A G 10: 114,916,025 (GRCm39) probably benign Het
Triml1 A G 8: 43,594,077 (GRCm39) V118A probably benign Het
Ttbk2 T A 2: 120,580,723 (GRCm39) T538S probably benign Het
Ttn A G 2: 76,545,616 (GRCm39) V32569A possibly damaging Het
U2af1 T A 17: 31,867,166 (GRCm39) Y158F probably benign Het
Usp7 A T 16: 8,534,496 (GRCm39) probably benign Het
Vdr A G 15: 97,767,232 (GRCm39) S179P probably benign Het
Vps13d A C 4: 144,792,397 (GRCm39) S663A probably benign Het
Wdr62 T A 7: 29,940,887 (GRCm39) T844S possibly damaging Het
Wipi1 C T 11: 109,467,956 (GRCm39) R407Q probably damaging Het
Zbtb43 A G 2: 33,343,909 (GRCm39) C439R probably damaging Het
Zfp507 T A 7: 35,491,171 (GRCm39) H704L probably damaging Het
Zzef1 G A 11: 72,786,068 (GRCm39) R2080K probably 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
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'- TCCCCAAGGCTTCAAAACACTGATG -3'
(R):5'- TCTGCACTCCACTGCAAAGATGTTC -3'

Sequencing Primer
(F):5'- GCCTTTATCTGCTTCATACAGAATGG -3'
(R):5'- TCAGATTAGCTACTCAGAGTGGAC -3'
Posted On 2013-05-23