Incidental Mutation 'R1611:Acsl6'
ID 176809
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 039648-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R1611 (G1)
Quality Score 221
Status Validated
Chromosome 11
Chromosomal Location 54194624-54255582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54216390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 186 (I186F)
Ref Sequence ENSEMBL: ENSMUSP00000104533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000145] [ENSMUST00000064690] [ENSMUST00000072178] [ENSMUST00000093106] [ENSMUST00000094194] [ENSMUST00000101211] [ENSMUST00000101213] [ENSMUST00000108905] [ENSMUST00000108899] [ENSMUST00000108904] [ENSMUST00000156252] [ENSMUST00000138515] [ENSMUST00000149403]
AlphaFold Q91WC3
Predicted Effect probably benign
Transcript: ENSMUST00000000145
AA Change: I126F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: I126F

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: I161F

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000069844
Gene: ENSMUSG00000020333
AA Change: I161F

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: I161F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: I161F

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: I161F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: I161F

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: I161F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: I161F

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: I161F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: I161F

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: I161F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: I161F

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 103 563 1.9e-103 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108905
AA Change: I186F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: I186F

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: ENSMUST00000108899
AA Change: I161F

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104527
Gene: ENSMUSG00000020333
AA Change: I161F

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: I186F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: I186F

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: I126F

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119714
Gene: ENSMUSG00000020333
AA Change: I126F

DomainStartEndE-ValueType
Pfam:AMP-binding 67 363 4.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138515
AA Change: I161F

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117128
Gene: ENSMUSG00000020333
AA Change: I161F

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 101 192 5.1e-18 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
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency 97% (75/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T A 10: 89,568,064 (GRCm39) K14* probably null Het
Adgrv1 A T 13: 81,707,236 (GRCm39) V1390E probably damaging Het
Akap1 C T 11: 88,736,104 (GRCm39) R186K probably benign Het
Alg10b T A 15: 90,109,984 (GRCm39) V99D probably damaging Het
Atp2c1 C T 9: 105,320,051 (GRCm39) G407S probably damaging Het
Atp9a T C 2: 168,515,489 (GRCm39) M401V probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bclaf1 T C 10: 20,198,998 (GRCm39) probably benign Het
Bcr T A 10: 74,961,034 (GRCm39) probably null Het
Bivm T C 1: 44,165,907 (GRCm39) I119T possibly damaging Het
Cacna1h A G 17: 25,600,445 (GRCm39) I1632T probably damaging Het
Capn9 G A 8: 125,338,251 (GRCm39) V537M possibly damaging Het
Cdk11b G A 4: 155,726,032 (GRCm39) probably benign Het
Cdk18 T A 1: 132,050,113 (GRCm39) I21F probably damaging Het
Cep85l T C 10: 53,224,777 (GRCm39) T271A probably benign Het
Chrm5 T C 2: 112,309,532 (GRCm39) N528S possibly damaging Het
Cpsf6 T A 10: 117,197,733 (GRCm39) probably benign Het
Cpt1c T C 7: 44,609,536 (GRCm39) T689A probably benign Het
D030068K23Rik T C 8: 109,975,935 (GRCm39) Y64C unknown Het
Ddb1 T A 19: 10,604,128 (GRCm39) probably null Het
Ddb1 T A 19: 10,590,252 (GRCm39) C260S probably damaging Het
Depdc5 C A 5: 33,148,297 (GRCm39) Q1478K probably damaging Het
Diaph1 A C 18: 38,033,755 (GRCm39) M247R unknown Het
Dnai3 T C 3: 145,801,113 (GRCm39) Y115C probably damaging Het
Dusp8 T C 7: 141,636,694 (GRCm39) S299G probably benign Het
Erbb4 C A 1: 68,079,547 (GRCm39) G1178C probably damaging Het
Exoc7 A T 11: 116,186,091 (GRCm39) I370N possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gm12353 T A 4: 19,631,843 (GRCm39) Y27* probably null Het
Gnl1 C T 17: 36,298,441 (GRCm39) T395I probably damaging Het
Hpse2 G A 19: 42,777,504 (GRCm39) T554I probably damaging Het
Hsd17b11 T C 5: 104,157,765 (GRCm39) I116V probably benign Het
Inava G A 1: 136,143,855 (GRCm39) P527L probably damaging Het
Kif24 A T 4: 41,423,552 (GRCm39) V233E probably benign Het
Klhl5 A G 5: 65,321,992 (GRCm39) T673A probably benign Het
Kmt2c C A 5: 25,564,309 (GRCm39) probably null Het
Lipg T C 18: 75,081,130 (GRCm39) N317S possibly damaging Het
Lpin1 A T 12: 16,627,219 (GRCm39) L109Q probably null Het
Lyst A G 13: 13,809,482 (GRCm39) E384G probably damaging Het
Mical2 T A 7: 111,980,671 (GRCm39) I105N probably damaging Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Naa35 G T 13: 59,776,747 (GRCm39) R574L probably benign Het
Ncor2 T C 5: 125,187,084 (GRCm39) probably benign Het
Nedd9 T A 13: 41,470,406 (GRCm39) D249V probably benign Het
Nsg1 T A 5: 38,296,060 (GRCm39) K38* probably null Het
Nup155 T A 15: 8,159,644 (GRCm39) D518E probably damaging Het
Or5i1 T A 2: 87,612,968 (GRCm39) I28N probably benign Het
Ovol1 T A 19: 5,601,098 (GRCm39) H231L probably damaging Het
Parg A G 14: 31,960,527 (GRCm39) I586V probably damaging Het
Pde7b T C 10: 20,310,236 (GRCm39) N242S probably benign Het
Pias3 T A 3: 96,607,013 (GRCm39) probably null Het
Pramel13 A T 4: 144,119,382 (GRCm39) V395E probably benign Het
Ptprf A G 4: 118,093,430 (GRCm39) V404A probably benign Het
Rigi T C 4: 40,223,862 (GRCm39) Y339C probably damaging Het
Rnf145 T C 11: 44,442,625 (GRCm39) L259P probably damaging Het
Rps6ka5 C G 12: 100,537,111 (GRCm39) V540L possibly damaging Het
Ryr3 C T 2: 112,483,850 (GRCm39) D3966N possibly damaging Het
Samd9l A T 6: 3,373,771 (GRCm39) S1163R probably benign Het
Serpinb9g T C 13: 33,676,857 (GRCm39) I213T possibly damaging Het
Sil1 A T 18: 35,402,141 (GRCm39) V331E possibly damaging Het
Ski A G 4: 155,244,395 (GRCm39) F410S probably damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Slfnl1 A G 4: 120,390,574 (GRCm39) E75G probably benign Het
Sp1 T A 15: 102,339,370 (GRCm39) I436N probably damaging Het
Taf4b A T 18: 14,977,526 (GRCm39) E766V probably null Het
Tgfbr1 A G 4: 47,396,526 (GRCm39) Y180C probably damaging Het
Ube4a T C 9: 44,868,035 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,011,958 (GRCm39) C606* probably null Het
Zfp341 C A 2: 154,487,623 (GRCm39) H702Q probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CATTGTACCTGGAGTCGCAAAGGAG -3'
(R):5'- CAAGTCAGGGGCCATCGTATAAGC -3'

Sequencing Primer
(F):5'- TCGCAAAGGAGGAAGAGTC -3'
(R):5'- gatagtctcacacagcccag -3'
Posted On 2014-04-24