Incidental Mutation 'IGL01731:Acsl6'
ID 105505
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 # IGL01731
Quality Score
Status
Chromosome 11
Chromosomal Location 54194624-54255582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54241385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 547 (E547G)
Ref Sequence ENSEMBL: ENSMUSP00000098773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000145] [ENSMUST00000072178] [ENSMUST00000093106] [ENSMUST00000094194] [ENSMUST00000101211] [ENSMUST00000101213] [ENSMUST00000108905] [ENSMUST00000108904]
AlphaFold Q91WC3
Predicted Effect probably benign
Transcript: ENSMUST00000000145
AA Change: E472G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: E472G

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: ENSMUST00000072178
AA Change: E547G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: E547G

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: E547G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: E547G

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: E547G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: E547G

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: E547G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: E547G

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: E547G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: E547G

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 1.9e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108905
AA Change: E572G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: E572G

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: ENSMUST00000108904
AA Change: E572G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: E572G

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 unknown
Transcript: ENSMUST00000139484
AA Change: E36G
SMART Domains Protein: ENSMUSP00000120693
Gene: ENSMUSG00000020333
AA Change: E36G

DomainStartEndE-ValueType
Pfam:AMP-binding 1 53 6.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124047
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,762,711 (GRCm39) probably benign Het
Abca13 T C 11: 9,199,749 (GRCm39) probably benign Het
Abcc6 G A 7: 45,652,034 (GRCm39) P611L possibly damaging Het
Aldh1b1 T C 4: 45,803,472 (GRCm39) F337L possibly damaging Het
Alg1 C T 16: 5,062,383 (GRCm39) R422C probably benign Het
Ankrd23 A G 1: 36,573,147 (GRCm39) L75S probably damaging Het
Arid5b T C 10: 67,933,439 (GRCm39) H578R probably damaging Het
Atp10a G T 7: 58,447,310 (GRCm39) W684L probably benign Het
Bzw2 T C 12: 36,157,647 (GRCm39) probably null Het
C2cd2 A T 16: 97,671,372 (GRCm39) I509K probably damaging Het
Card11 T C 5: 140,868,057 (GRCm39) T864A possibly damaging Het
Ces1f A G 8: 93,993,948 (GRCm39) S278P possibly damaging Het
Chd8 T C 14: 52,450,111 (GRCm39) I208V probably benign Het
Cstf2t T C 19: 31,061,738 (GRCm39) S425P probably benign Het
Cxcl1 A G 5: 91,039,436 (GRCm39) T60A probably benign Het
Diaph1 G T 18: 37,986,762 (GRCm39) probably benign Het
Dnai4 T C 4: 102,919,632 (GRCm39) I139V probably benign Het
Exoc3l T G 8: 106,019,587 (GRCm39) K394T probably benign Het
Fabp4 T C 3: 10,270,293 (GRCm39) probably benign Het
Fam234b T A 6: 135,188,903 (GRCm39) F169L possibly damaging Het
Hectd1 C A 12: 51,849,593 (GRCm39) D204Y possibly damaging Het
Hephl1 A T 9: 14,981,066 (GRCm39) Y789N probably damaging Het
Igfbp6 C A 15: 102,053,252 (GRCm39) N90K probably benign Het
Khdrbs1 A T 4: 129,619,462 (GRCm39) D226E probably benign Het
Lipo4 T A 19: 33,490,013 (GRCm39) Q163L probably damaging Het
Med13l T C 5: 118,880,472 (GRCm39) I1188T probably benign Het
Mki67 T C 7: 135,298,278 (GRCm39) E2252G probably benign Het
Nepn G T 10: 52,276,660 (GRCm39) R132L probably benign Het
Nlrp9b T A 7: 19,757,342 (GRCm39) L193* probably null Het
Ntn1 A G 11: 68,276,244 (GRCm39) S235P probably damaging Het
Nup210l G T 3: 90,061,873 (GRCm39) R684L probably damaging Het
Obi1 T C 14: 104,716,738 (GRCm39) D545G probably damaging Het
Obp2b A G 2: 25,629,293 (GRCm39) S154G possibly damaging Het
Or10ag59 A G 2: 87,406,282 (GRCm39) T285A probably benign Het
Or4f57 A G 2: 111,790,980 (GRCm39) V146A probably benign Het
Or51b6b T A 7: 103,310,053 (GRCm39) T135S probably benign Het
Or5p1 A T 7: 107,916,682 (GRCm39) I194F probably benign Het
Polr3b A T 10: 84,467,704 (GRCm39) R95* probably null Het
Prelid2 C T 18: 42,070,714 (GRCm39) V40M probably benign Het
Ptprb T G 10: 116,208,781 (GRCm39) L2205R probably damaging Het
R3hcc1l T C 19: 42,551,240 (GRCm39) V79A probably benign Het
Stam2 A G 2: 52,598,162 (GRCm39) I259T probably damaging Het
Tdpoz4 A T 3: 93,704,189 (GRCm39) N162I possibly damaging Het
Tuba3a A G 6: 125,259,721 (GRCm39) V75A possibly damaging Het
Vmn2r73 A T 7: 85,506,757 (GRCm39) *852K probably null Het
Zfp7 C T 15: 76,772,505 (GRCm39) Q69* probably null Het
Zfp865 G T 7: 5,032,875 (GRCm39) A287S probably benign Het
Zmpste24 T A 4: 120,955,081 (GRCm39) Q39L probably benign 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
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
IGL02716:Acsl6 APN 11 54,218,102 (GRCm39) missense probably benign 0.02
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 2014-01-21