Incidental Mutation 'R2144:Acsl6'
ID 236653
Institutional Source Beutler Lab
Gene Symbol Acsl6
Ensembl Gene ENSMUSG00000020333
Gene Name acyl-CoA synthetase long-chain family member 6
Synonyms Lacsl, A330035H04Rik, Facl6
MMRRC Submission 040147-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R2144 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 54194624-54255582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54232604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 485 (Q485L)
Ref Sequence ENSEMBL: ENSMUSP00000104532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000145] [ENSMUST00000064690] [ENSMUST00000072178] [ENSMUST00000093106] [ENSMUST00000094194] [ENSMUST00000101211] [ENSMUST00000108905] [ENSMUST00000101213] [ENSMUST00000108904] [ENSMUST00000108899] [ENSMUST00000156252]
AlphaFold Q91WC3
Predicted Effect probably damaging
Transcript: ENSMUST00000000145
AA Change: Q385L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: Q385L

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
SMART Domains Protein: ENSMUSP00000069844
Gene: ENSMUSG00000020333

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 102 346 5.5e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072178
AA Change: Q460L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: Q460L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 2.3e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093106
AA Change: Q460L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: Q460L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 2.3e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094194
AA Change: Q460L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: Q460L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 2.3e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101211
AA Change: Q460L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: Q460L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 1.9e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108905
AA Change: Q485L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: Q485L

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 damaging
Transcript: ENSMUST00000101213
AA Change: Q460L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: Q460L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 1.9e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108904
AA Change: Q485L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: Q485L

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 noncoding transcript
Transcript: ENSMUST00000127731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127107
Predicted Effect probably benign
Transcript: ENSMUST00000108899
SMART Domains Protein: ENSMUSP00000104527
Gene: ENSMUSG00000020333

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 409 2.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139484
SMART Domains Protein: ENSMUSP00000120693
Gene: ENSMUSG00000020333

DomainStartEndE-ValueType
Pfam:AMP-binding 1 53 6.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156252
SMART Domains Protein: ENSMUSP00000119714
Gene: ENSMUSG00000020333

DomainStartEndE-ValueType
Pfam:AMP-binding 67 363 4.9e-54 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.1%
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T A 4: 88,786,412 (GRCm39) T69S unknown Het
4930553M12Rik G A 4: 88,786,411 (GRCm39) T69I unknown Het
Adam5 C A 8: 25,305,496 (GRCm39) V81F probably benign Het
Aoc1l1 A G 6: 48,952,225 (GRCm39) H50R probably benign Het
Bag2 A G 1: 33,785,912 (GRCm39) S137P possibly damaging Het
Birc6 A T 17: 74,967,408 (GRCm39) Q4103L possibly damaging Het
Camta2 A G 11: 70,562,401 (GRCm39) F999L probably benign Het
Cap2 A T 13: 46,713,978 (GRCm39) probably null Het
Ccnk T A 12: 108,155,349 (GRCm39) L102Q probably null Het
Cd52 T C 4: 133,821,048 (GRCm39) probably benign Het
Cdc123 A T 2: 5,815,617 (GRCm39) I160K probably benign Het
Cep85l T C 10: 53,234,222 (GRCm39) N52S probably benign Het
Cntnap5a C T 1: 116,029,440 (GRCm39) T298I probably benign Het
Cpsf4 G T 5: 145,115,572 (GRCm39) S192I probably benign Het
Cpxm1 A G 2: 130,239,330 (GRCm39) S33P probably benign Het
Cyp2a12 A T 7: 26,734,194 (GRCm39) T376S possibly damaging Het
Cyp3a16 A G 5: 145,392,894 (GRCm39) F137S probably damaging Het
Des A G 1: 75,343,448 (GRCm39) T444A probably benign Het
Dgcr8 C T 16: 18,102,120 (GRCm39) G54D probably damaging Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dsc3 A G 18: 20,113,743 (GRCm39) F393S possibly damaging Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Eml5 A C 12: 98,776,864 (GRCm39) F1417C probably damaging Het
Ep400 A T 5: 110,851,384 (GRCm39) M1366K unknown Het
Epg5 G T 18: 77,997,412 (GRCm39) C425F possibly damaging Het
Epha3 C G 16: 63,593,680 (GRCm39) R136P possibly damaging Het
Extl1 C A 4: 134,098,355 (GRCm39) E225D probably benign Het
Fam186b A G 15: 99,178,538 (GRCm39) Y263H probably benign Het
Fbn2 A G 18: 58,186,065 (GRCm39) V1761A possibly damaging Het
Fer1l6 T A 15: 58,499,383 (GRCm39) M1251K probably benign Het
Gart A T 16: 91,426,969 (GRCm39) I555N probably damaging Het
Gm11596 A T 11: 99,683,789 (GRCm39) C110* probably null Het
Gnptab C T 10: 88,264,368 (GRCm39) S262L possibly damaging Het
Gpr21 T C 2: 37,408,243 (GRCm39) V263A probably benign Het
Gxylt1 T C 15: 93,152,361 (GRCm39) I224V probably benign Het
H2-Aa A G 17: 34,502,801 (GRCm39) S122P probably damaging Het
Hsph1 A C 5: 149,553,802 (GRCm39) probably null Het
Hunk G A 16: 90,229,420 (GRCm39) D94N probably damaging Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Inpp5k A T 11: 75,538,017 (GRCm39) probably null Het
Ints10 A G 8: 69,249,457 (GRCm39) T96A probably damaging Het
Kansl2 A T 15: 98,424,512 (GRCm39) V306E probably benign Het
Kif20a A G 18: 34,758,657 (GRCm39) D42G possibly damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Krtap1-5 T C 11: 99,471,644 (GRCm39) I50V probably benign Het
Ktn1 A G 14: 47,952,109 (GRCm39) E983G probably damaging Het
Lrrk1 G A 7: 65,945,911 (GRCm39) S566L probably damaging Het
M6pr A G 6: 122,292,326 (GRCm39) M174V probably benign Het
Man2a2 A G 7: 80,013,264 (GRCm39) S510P probably damaging Het
Mmrn1 G A 6: 60,922,059 (GRCm39) S172N possibly damaging Het
Mpv17 A G 5: 31,311,533 (GRCm39) probably null Het
Mrgpra9 T C 7: 46,885,211 (GRCm39) E152G probably benign Het
Mst1r T C 9: 107,790,367 (GRCm39) V660A probably benign Het
Myof A G 19: 37,969,669 (GRCm39) probably null Het
Myrf G A 19: 10,206,038 (GRCm39) P126L probably benign Het
Nckap1l C T 15: 103,384,103 (GRCm39) A567V probably damaging Het
Nphs1 A G 7: 30,160,395 (GRCm39) E169G probably benign Het
Npy1r T A 8: 67,157,836 (GRCm39) V382D probably benign Het
Nrl A T 14: 55,758,307 (GRCm39) M140K possibly damaging Het
Odad2 C T 18: 7,127,229 (GRCm39) E995K probably damaging Het
Or14c39 T A 7: 86,344,488 (GRCm39) F275I probably damaging Het
Or2ag1b A T 7: 106,288,164 (GRCm39) M258K probably damaging Het
Or4f56 A G 2: 111,703,768 (GRCm39) I144T probably damaging Het
Or5ac17 C T 16: 59,036,389 (GRCm39) V196M probably benign Het
Or8d2 C T 9: 38,759,635 (GRCm39) T75I probably damaging Het
Orc5 T A 5: 22,752,925 (GRCm39) L36F possibly damaging Het
Osbpl1a A T 18: 13,004,230 (GRCm39) S396T probably benign Het
Pappa T A 4: 65,099,186 (GRCm39) Y568* probably null Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pclo C T 5: 14,908,766 (GRCm39) L5025F unknown Het
Pde3a T C 6: 141,435,837 (GRCm39) V924A probably benign Het
Pdpr A G 8: 111,844,668 (GRCm39) N355S probably damaging Het
Pepd A T 7: 34,620,843 (GRCm39) K36M probably benign Het
Pet100 T G 8: 3,672,355 (GRCm39) L14R probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Pik3r6 T A 11: 68,434,437 (GRCm39) L546* probably null Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Plxdc1 T C 11: 97,824,838 (GRCm39) Y339C probably damaging Het
Primpol A T 8: 47,039,378 (GRCm39) M414K probably damaging Het
Prol1 A T 5: 88,476,254 (GRCm39) T215S unknown Het
Prss22 A G 17: 24,213,656 (GRCm39) Y212H probably damaging Het
Ralgapa2 C A 2: 146,230,524 (GRCm39) V1014L probably damaging Het
Rap1gap2 G A 11: 74,316,802 (GRCm39) T245M probably damaging Het
Rbm26 T A 14: 105,352,638 (GRCm39) R1009* probably null Het
Rbm42 A G 7: 30,340,535 (GRCm39) *450Q probably null Het
Rere T C 4: 150,701,388 (GRCm39) V1256A probably damaging Het
Rmi1 G T 13: 58,555,797 (GRCm39) L15F probably damaging Het
Rnf213 T C 11: 119,334,516 (GRCm39) S3242P probably damaging Het
Rtel1 T A 2: 180,965,499 (GRCm39) V167E probably damaging Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Sin3b T C 8: 73,457,893 (GRCm39) L203P probably damaging Het
Skint6 T C 4: 113,093,457 (GRCm39) S229G possibly damaging Het
Slco1a4 T C 6: 141,755,104 (GRCm39) Y566C probably damaging Het
Smgc T G 15: 91,728,624 (GRCm39) D121E possibly damaging Het
Sned1 T A 1: 93,199,406 (GRCm39) F495L probably damaging Het
St7 A T 6: 17,886,006 (GRCm39) N52I possibly damaging Het
Sycn C A 7: 28,240,494 (GRCm39) Q54K probably benign Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tcaf2 A T 6: 42,619,738 (GRCm39) H96Q probably benign Het
Tcp11l2 T C 10: 84,449,363 (GRCm39) Y443H probably damaging Het
Tmem200c A T 17: 69,149,244 (GRCm39) Q609L possibly damaging Het
Tmx3 G A 18: 90,535,614 (GRCm39) G83R probably damaging Het
Tpgs2 A C 18: 25,301,598 (GRCm39) V23G possibly damaging Het
Trhr T C 15: 44,060,579 (GRCm39) V33A probably benign Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Trnt1 A G 6: 106,755,000 (GRCm39) K244E probably damaging Het
Tsfm G A 10: 126,864,314 (GRCm39) Q134* probably null Het
Ttll9 A G 2: 152,844,927 (GRCm39) T432A probably benign Het
Vmn2r78 C T 7: 86,603,690 (GRCm39) L623F probably damaging Het
Wdr55 A G 18: 36,895,419 (GRCm39) N132S possibly damaging Het
Wipf2 A T 11: 98,787,040 (GRCm39) R356S possibly damaging Het
Wnk1 A G 6: 119,925,949 (GRCm39) probably benign Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp300 A G X: 20,948,190 (GRCm39) S525P possibly damaging Het
Zfp592 A G 7: 80,687,950 (GRCm39) T959A 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TTCACTTCCGCCAGTGTCAG -3'
(R):5'- TCTGACTTCCACAGTGTGCC -3'

Sequencing Primer
(F):5'- TGTCAGCTACCAGGGCACTAC -3'
(R):5'- TTCCACAGTGTGCCAGGGTG -3'
Posted On 2014-10-01