Incidental Mutation 'R6809:Slc27a6'
ID 533729
Institutional Source Beutler Lab
Gene Symbol Slc27a6
Ensembl Gene ENSMUSG00000024600
Gene Name solute carrier family 27 (fatty acid transporter), member 6
Synonyms FATP6, 4732438L20Rik
MMRRC Submission 044922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6809 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 58689329-58745845 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58738126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 394 (E394G)
Ref Sequence ENSEMBL: ENSMUSP00000025500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025500]
AlphaFold E9Q9W4
Predicted Effect probably benign
Transcript: ENSMUST00000025500
AA Change: E394G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: E394G

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
Pfam:AMP-binding 60 487 5.3e-71 PFAM
Pfam:AMP-binding_C 495 571 2.6e-8 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T A 1: 192,857,089 (GRCm39) V147E possibly damaging Het
Abtb3 A G 10: 85,467,240 (GRCm39) T732A probably benign Het
Adgrv1 A T 13: 81,621,072 (GRCm39) M3893K probably benign Het
Aox3 T C 1: 58,157,840 (GRCm39) S66P probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bloc1s5 A G 13: 38,787,961 (GRCm39) V141A probably benign Het
Bltp1 A G 3: 36,928,431 (GRCm39) N61S probably damaging Het
Col28a1 T C 6: 7,999,468 (GRCm39) Y1083C probably damaging Het
Crb1 A G 1: 139,170,864 (GRCm39) V842A probably benign Het
Dapk1 A G 13: 60,899,103 (GRCm39) S858G probably benign Het
Dlgap2 G T 8: 14,229,619 (GRCm39) probably benign Het
Dpysl4 A G 7: 138,673,576 (GRCm39) D199G probably benign Het
Eml6 C T 11: 29,753,161 (GRCm39) V917I probably benign Het
Fut9 T A 4: 25,620,647 (GRCm39) T56S probably benign Het
Gtdc1 G C 2: 44,465,563 (GRCm39) S214* probably null Het
Gtdc1 A G 2: 44,715,396 (GRCm39) F49S probably damaging Het
Hoxd9 A G 2: 74,529,590 (GRCm39) Y282C probably damaging Het
Hrc A G 7: 44,985,803 (GRCm39) E318G probably benign Het
Ikzf2 T C 1: 69,609,661 (GRCm39) T195A probably damaging Het
Krt36 A T 11: 99,996,335 (GRCm39) S30T probably benign Het
Lrp1 A G 10: 127,390,925 (GRCm39) F2991L probably benign Het
Lrrc34 T A 3: 30,688,749 (GRCm39) Q184L possibly damaging Het
Mapk1 A T 16: 16,853,326 (GRCm39) M49L probably benign Het
Mroh2a G T 1: 88,162,938 (GRCm39) Q360H probably benign Het
Mrpl48 A G 7: 100,195,574 (GRCm39) probably benign Het
Ncln A G 10: 81,323,512 (GRCm39) probably null Het
Nol4 T A 18: 23,053,882 (GRCm39) Q96L probably damaging Het
Or2y1e G T 11: 49,218,687 (GRCm39) V150L probably benign Het
Or5g25 G A 2: 85,478,317 (GRCm39) A116V probably damaging Het
Padi2 A G 4: 140,674,077 (GRCm39) probably null Het
Pak5 T G 2: 135,939,501 (GRCm39) I545L possibly damaging Het
Paqr5 T A 9: 61,876,064 (GRCm39) R157W probably null Het
Pard3b G A 1: 62,200,340 (GRCm39) R293H probably damaging Het
Phf11d C A 14: 59,593,844 (GRCm39) C110F probably damaging Het
Pkn2 G A 3: 142,504,765 (GRCm39) P804S probably damaging Het
Pnpla6 G A 8: 3,584,611 (GRCm39) C743Y possibly damaging Het
Pramel14 A G 4: 143,719,651 (GRCm39) V238A probably benign Het
Pramel58 C A 5: 94,831,277 (GRCm39) Q95K probably benign Het
Psip1 A G 4: 83,386,879 (GRCm39) M164T probably benign Het
Rgs22 C G 15: 36,048,910 (GRCm39) S914T probably damaging Het
Rufy4 G A 1: 74,172,206 (GRCm39) V310I probably benign Het
Ryr2 G A 13: 11,741,816 (GRCm39) L2122F probably damaging Het
Sgcb T G 5: 73,798,036 (GRCm39) N142T probably benign Het
Slc29a2 T C 19: 5,079,271 (GRCm39) V298A probably damaging Het
Slf2 C A 19: 44,931,907 (GRCm39) T654N probably damaging Het
Spata4 A C 8: 55,055,368 (GRCm39) K123Q possibly damaging Het
Taar7b T C 10: 23,876,756 (GRCm39) V307A probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Ttn T C 2: 76,693,983 (GRCm39) E295G possibly damaging Het
Ubqln4 A T 3: 88,462,679 (GRCm39) Q48L possibly damaging Het
Ugt1a10 T A 1: 87,983,647 (GRCm39) D148E probably damaging Het
Vmn2r85 T A 10: 130,261,795 (GRCm39) N181Y probably benign Het
Wdfy3 C T 5: 102,071,813 (GRCm39) V1026I possibly damaging Het
Other mutations in Slc27a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Slc27a6 APN 18 58,689,836 (GRCm39) missense probably benign
IGL01419:Slc27a6 APN 18 58,742,281 (GRCm39) missense probably benign 0.00
IGL01638:Slc27a6 APN 18 58,740,885 (GRCm39) missense probably damaging 1.00
IGL02067:Slc27a6 APN 18 58,745,263 (GRCm39) missense probably benign 0.00
IGL02612:Slc27a6 APN 18 58,689,977 (GRCm39) missense probably benign 0.00
IGL03118:Slc27a6 APN 18 58,689,815 (GRCm39) missense probably benign 0.00
R0096:Slc27a6 UTSW 18 58,731,829 (GRCm39) splice site probably benign
R0096:Slc27a6 UTSW 18 58,731,829 (GRCm39) splice site probably benign
R0255:Slc27a6 UTSW 18 58,742,937 (GRCm39) missense possibly damaging 0.69
R0449:Slc27a6 UTSW 18 58,742,237 (GRCm39) splice site probably null
R0599:Slc27a6 UTSW 18 58,689,885 (GRCm39) missense probably damaging 1.00
R0711:Slc27a6 UTSW 18 58,731,829 (GRCm39) splice site probably benign
R1082:Slc27a6 UTSW 18 58,689,632 (GRCm39) missense probably damaging 0.97
R1560:Slc27a6 UTSW 18 58,712,904 (GRCm39) nonsense probably null
R1942:Slc27a6 UTSW 18 58,689,870 (GRCm39) missense probably damaging 0.99
R2424:Slc27a6 UTSW 18 58,738,189 (GRCm39) missense probably benign 0.20
R3796:Slc27a6 UTSW 18 58,731,823 (GRCm39) splice site probably benign
R4718:Slc27a6 UTSW 18 58,738,138 (GRCm39) missense probably benign 0.03
R4803:Slc27a6 UTSW 18 58,705,105 (GRCm39) missense possibly damaging 0.59
R5714:Slc27a6 UTSW 18 58,731,625 (GRCm39) missense probably damaging 0.97
R5773:Slc27a6 UTSW 18 58,715,245 (GRCm39) missense probably damaging 1.00
R5996:Slc27a6 UTSW 18 58,745,306 (GRCm39) missense possibly damaging 0.89
R6049:Slc27a6 UTSW 18 58,731,732 (GRCm39) missense probably damaging 1.00
R6441:Slc27a6 UTSW 18 58,705,130 (GRCm39) missense probably benign 0.06
R6701:Slc27a6 UTSW 18 58,712,947 (GRCm39) missense probably benign 0.01
R6703:Slc27a6 UTSW 18 58,742,911 (GRCm39) missense probably benign 0.19
R7514:Slc27a6 UTSW 18 58,745,293 (GRCm39) nonsense probably null
R7536:Slc27a6 UTSW 18 58,689,698 (GRCm39) missense probably damaging 1.00
R7615:Slc27a6 UTSW 18 58,742,255 (GRCm39) missense probably damaging 1.00
R7808:Slc27a6 UTSW 18 58,742,267 (GRCm39) missense probably damaging 1.00
R8279:Slc27a6 UTSW 18 58,705,251 (GRCm39) missense probably benign 0.00
R8842:Slc27a6 UTSW 18 58,712,888 (GRCm39) missense probably benign 0.07
R8888:Slc27a6 UTSW 18 58,715,306 (GRCm39) missense probably damaging 1.00
R8895:Slc27a6 UTSW 18 58,715,306 (GRCm39) missense probably damaging 1.00
R9092:Slc27a6 UTSW 18 58,742,330 (GRCm39) missense probably benign
R9103:Slc27a6 UTSW 18 58,705,268 (GRCm39) missense probably damaging 0.99
R9153:Slc27a6 UTSW 18 58,731,805 (GRCm39) missense probably benign 0.25
R9306:Slc27a6 UTSW 18 58,742,953 (GRCm39) missense possibly damaging 0.50
R9620:Slc27a6 UTSW 18 58,742,887 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTAGAGAGCCCCGCTTACTAG -3'
(R):5'- TCCAACAGTTAAGCCAGTCGTC -3'

Sequencing Primer
(F):5'- GCTTACTAGTGCCTCCCAC -3'
(R):5'- AGTTAAGCCAGTCGTCCTGCAC -3'
Posted On 2018-09-12