Incidental Mutation 'IGL02716:Acsl6'
ID 304772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsl6
Ensembl Gene ENSMUSG00000020333
Gene Name acyl-CoA synthetase long-chain family member 6
Synonyms Lacsl, A330035H04Rik, Facl6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # IGL02716
Quality Score
Status
Chromosome 11
Chromosomal Location 54194624-54255582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54218102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 212 (S212P)
Ref Sequence ENSEMBL: ENSMUSP00000119714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000145] [ENSMUST00000064690] [ENSMUST00000072178] [ENSMUST00000093106] [ENSMUST00000094194] [ENSMUST00000101211] [ENSMUST00000101213] [ENSMUST00000108899] [ENSMUST00000108904] [ENSMUST00000156252] [ENSMUST00000108905] [ENSMUST00000149403] [ENSMUST00000138515]
AlphaFold Q91WC3
Predicted Effect probably benign
Transcript: ENSMUST00000000145
AA Change: S212P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: S212P

DomainStartEndE-ValueType
Pfam:AMP-binding 68 273 7.7e-39 PFAM
Pfam:AMP-binding 262 488 2.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064690
AA Change: S247P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000069844
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 102 346 5.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072178
AA Change: S247P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 2.3e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093106
AA Change: S247P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 2.3e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094194
AA Change: S247P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 2.3e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101211
AA Change: S247P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 1.9e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101213
AA Change: S247P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 1.9e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108899
AA Change: S247P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104527
Gene: ENSMUSG00000020333
AA Change: S247P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 409 2.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108904
AA Change: S272P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: S272P

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
Pfam:AMP-binding 128 588 1.6e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156252
AA Change: S212P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000119714
Gene: ENSMUSG00000020333
AA Change: S212P

DomainStartEndE-ValueType
Pfam:AMP-binding 67 363 4.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108905
AA Change: S272P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: S272P

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
Pfam:AMP-binding 128 588 7.7e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149403
SMART Domains Protein: ENSMUSP00000120540
Gene: ENSMUSG00000020333

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
SCOP:d1lci__ 82 139 2e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138515
SMART Domains Protein: ENSMUSP00000117128
Gene: ENSMUSG00000020333

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 101 192 5.1e-18 PFAM
Coding Region Coverage
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 catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,983,576 (GRCm39) R711Q possibly damaging Het
Akp3 A C 1: 87,053,201 (GRCm39) D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 (GRCm39) Q169L possibly damaging Het
Aspm A G 1: 139,407,425 (GRCm39) Y2104C probably damaging Het
Baz2b G A 2: 59,792,868 (GRCm39) S420L possibly damaging Het
Cenpo T C 12: 4,265,390 (GRCm39) N210S possibly damaging Het
Chadl T C 15: 81,580,116 (GRCm39) N40D probably damaging Het
Crebbp T C 16: 3,932,742 (GRCm39) E586G probably benign Het
Cts7 T A 13: 61,504,422 (GRCm39) Q47L probably benign Het
Cyp2c40 C A 19: 39,795,980 (GRCm39) D133Y possibly damaging Het
Dnah3 A T 7: 119,536,246 (GRCm39) M3679K probably damaging Het
Dym T C 18: 75,419,754 (GRCm39) Y642H probably damaging Het
Efr3b T C 12: 4,034,627 (GRCm39) D65G probably damaging Het
Elmo1 T A 13: 20,633,672 (GRCm39) F445I probably damaging Het
Epdr1 C T 13: 19,778,740 (GRCm39) V119M probably benign Het
Epha4 G T 1: 77,357,602 (GRCm39) R799S probably damaging Het
Esyt3 A T 9: 99,199,277 (GRCm39) V778E probably damaging Het
F10 A T 8: 13,098,177 (GRCm39) K127* probably null Het
Fcgbp G A 7: 27,800,859 (GRCm39) E1302K probably damaging Het
Fer1l4 A G 2: 155,871,635 (GRCm39) F1382L probably damaging Het
Fhad1 T C 4: 141,645,642 (GRCm39) I318V possibly damaging Het
Fscn2 A T 11: 120,257,550 (GRCm39) T304S probably benign Het
Gab1 A T 8: 81,496,323 (GRCm39) L659Q probably damaging Het
Gm4845 A C 1: 141,184,576 (GRCm39) noncoding transcript Het
Gm572 A G 4: 148,739,327 (GRCm39) M52V probably benign Het
Hmgcr T C 13: 96,796,520 (GRCm39) probably null Het
Kcnk5 T C 14: 20,231,496 (GRCm39) T9A probably damaging Het
Krt87 A C 15: 101,332,485 (GRCm39) F243V possibly damaging Het
Lyset A G 12: 102,711,088 (GRCm39) T104A probably benign Het
Mast1 G T 8: 85,662,352 (GRCm39) P52Q probably damaging Het
Mcf2l A T 8: 13,047,277 (GRCm39) Q211L probably benign Het
Mtrex T G 13: 113,019,680 (GRCm39) D810A probably benign Het
Mtus2 C A 5: 148,173,120 (GRCm39) P968T probably benign Het
Mylk2 T C 2: 152,764,073 (GRCm39) *614R probably null Het
Myo15b A T 11: 115,774,535 (GRCm39) E2049V probably benign Het
Myo6 A T 9: 80,176,976 (GRCm39) H581L probably damaging Het
Numb A T 12: 83,847,982 (GRCm39) S241T possibly damaging Het
Or1j10 A G 2: 36,267,355 (GRCm39) D189G possibly damaging Het
Or4k77 A T 2: 111,199,126 (GRCm39) I50F probably benign Het
Or4x11 G T 2: 89,868,138 (GRCm39) V292L probably benign Het
Phldb2 A G 16: 45,621,953 (GRCm39) S676P probably damaging Het
Rttn G A 18: 89,066,541 (GRCm39) E1196K possibly damaging Het
Slc13a3 G A 2: 165,248,635 (GRCm39) P548S unknown Het
Slc2a7 A G 4: 150,244,467 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,547,135 (GRCm39) S261P possibly damaging Het
Spryd3 T A 15: 102,041,896 (GRCm39) Y42F possibly damaging Het
Srrm3 A G 5: 135,883,287 (GRCm39) probably null Het
Stambp G A 6: 83,533,372 (GRCm39) T297I probably damaging Het
Sypl1 T A 12: 33,017,668 (GRCm39) Y129N probably damaging Het
Syt14 G A 1: 192,662,843 (GRCm39) P368S possibly damaging Het
Tas2r122 T C 6: 132,688,227 (GRCm39) D222G probably damaging Het
Tead2 C A 7: 44,881,720 (GRCm39) Y79* probably null Het
Uso1 T C 5: 92,321,794 (GRCm39) V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 (GRCm39) S97P probably damaging Het
Vmn2r82 T A 10: 79,213,678 (GRCm39) V88D probably benign Het
Vps29 A G 5: 122,500,129 (GRCm39) T85A probably benign Het
Wdr90 T A 17: 26,076,194 (GRCm39) S500C probably damaging Het
Zfp958 G A 8: 4,675,967 (GRCm39) probably null Het
Other mutations in Acsl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Acsl6 APN 11 54,216,472 (GRCm39) missense probably damaging 1.00
IGL01374:Acsl6 APN 11 54,229,245 (GRCm39) missense probably damaging 1.00
IGL01455:Acsl6 APN 11 54,214,131 (GRCm39) missense possibly damaging 0.93
IGL01607:Acsl6 APN 11 54,243,823 (GRCm39) missense possibly damaging 0.94
IGL01731:Acsl6 APN 11 54,241,385 (GRCm39) missense probably benign 0.04
IGL01775:Acsl6 APN 11 54,236,826 (GRCm39) splice site probably benign
IGL02487:Acsl6 APN 11 54,227,769 (GRCm39) missense possibly damaging 0.76
IGL02893:Acsl6 APN 11 54,236,725 (GRCm39) missense probably damaging 1.00
R0514:Acsl6 UTSW 11 54,241,406 (GRCm39) missense probably damaging 1.00
R0739:Acsl6 UTSW 11 54,227,961 (GRCm39) missense probably damaging 1.00
R1593:Acsl6 UTSW 11 54,214,134 (GRCm39) missense probably damaging 1.00
R1611:Acsl6 UTSW 11 54,216,390 (GRCm39) missense possibly damaging 0.93
R1626:Acsl6 UTSW 11 54,242,872 (GRCm39) missense probably damaging 1.00
R1633:Acsl6 UTSW 11 54,219,224 (GRCm39) splice site probably benign
R1697:Acsl6 UTSW 11 54,220,792 (GRCm39) missense probably damaging 1.00
R1852:Acsl6 UTSW 11 54,251,902 (GRCm39) missense probably damaging 1.00
R1923:Acsl6 UTSW 11 54,216,417 (GRCm39) missense probably damaging 1.00
R2081:Acsl6 UTSW 11 54,211,085 (GRCm39) missense possibly damaging 0.76
R2144:Acsl6 UTSW 11 54,232,604 (GRCm39) missense probably damaging 1.00
R2167:Acsl6 UTSW 11 54,217,983 (GRCm39) missense probably benign 0.03
R2205:Acsl6 UTSW 11 54,214,833 (GRCm39) missense probably damaging 1.00
R2357:Acsl6 UTSW 11 54,218,106 (GRCm39) missense probably damaging 0.99
R4288:Acsl6 UTSW 11 54,227,912 (GRCm39) missense probably benign 0.19
R4450:Acsl6 UTSW 11 54,219,229 (GRCm39) missense probably damaging 1.00
R4783:Acsl6 UTSW 11 54,227,819 (GRCm39) missense probably damaging 1.00
R5115:Acsl6 UTSW 11 54,231,324 (GRCm39) splice site probably null
R5233:Acsl6 UTSW 11 54,216,432 (GRCm39) missense possibly damaging 0.69
R5416:Acsl6 UTSW 11 54,227,997 (GRCm39) missense probably benign 0.00
R5482:Acsl6 UTSW 11 54,217,964 (GRCm39) missense probably damaging 1.00
R5633:Acsl6 UTSW 11 54,228,015 (GRCm39) missense probably benign
R5749:Acsl6 UTSW 11 54,214,881 (GRCm39) critical splice donor site probably null
R6139:Acsl6 UTSW 11 54,231,368 (GRCm39) missense probably damaging 1.00
R6270:Acsl6 UTSW 11 54,242,933 (GRCm39) missense probably benign 0.45
R6337:Acsl6 UTSW 11 54,231,368 (GRCm39) missense probably damaging 1.00
R6571:Acsl6 UTSW 11 54,216,390 (GRCm39) missense possibly damaging 0.85
R6736:Acsl6 UTSW 11 54,215,992 (GRCm39) missense probably damaging 1.00
R6918:Acsl6 UTSW 11 54,232,582 (GRCm39) splice site probably null
R6919:Acsl6 UTSW 11 54,232,582 (GRCm39) splice site probably null
R7846:Acsl6 UTSW 11 54,251,901 (GRCm39) missense probably damaging 0.98
R7910:Acsl6 UTSW 11 54,236,797 (GRCm39) nonsense probably null
R8330:Acsl6 UTSW 11 54,236,034 (GRCm39) missense probably benign 0.22
R8532:Acsl6 UTSW 11 54,218,001 (GRCm39) missense probably damaging 1.00
R8535:Acsl6 UTSW 11 54,229,328 (GRCm39) missense probably damaging 1.00
R8884:Acsl6 UTSW 11 54,236,728 (GRCm39) missense probably damaging 1.00
R9036:Acsl6 UTSW 11 54,227,840 (GRCm39) critical splice donor site probably null
R9052:Acsl6 UTSW 11 54,232,615 (GRCm39) missense possibly damaging 0.78
R9455:Acsl6 UTSW 11 54,210,752 (GRCm39) unclassified probably benign
R9514:Acsl6 UTSW 11 54,225,880 (GRCm39) missense probably benign 0.00
R9530:Acsl6 UTSW 11 54,220,783 (GRCm39) missense probably damaging 1.00
R9603:Acsl6 UTSW 11 54,225,911 (GRCm39) missense probably damaging 1.00
Z1177:Acsl6 UTSW 11 54,210,998 (GRCm39) nonsense probably null
Posted On 2015-04-16