Incidental Mutation 'R9153:Slc27a6'
ID 695190
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 068940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9153 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 58689329-58745845 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58731805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 385 (F385S)
Ref Sequence ENSEMBL: ENSMUSP00000025500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025500]
AlphaFold E9Q9W4
Predicted Effect probably benign
Transcript: ENSMUST00000025500
AA Change: F385S

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: F385S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,107,481 (GRCm39) S711R possibly damaging Het
Adnp C A 2: 168,026,580 (GRCm39) Q238H possibly damaging Het
Akap13 A G 7: 75,259,229 (GRCm39) T618A probably benign Het
Ankfn1 G A 11: 89,302,845 (GRCm39) R58W probably damaging Het
Atp8b5 A G 4: 43,308,493 (GRCm39) probably benign Het
Borcs5 G T 6: 134,618,108 (GRCm39) probably benign Het
C1s1 T C 6: 124,517,906 (GRCm39) M25V possibly damaging Het
Canx A T 11: 50,188,162 (GRCm39) D527E probably benign Het
Ccdc154 G A 17: 25,382,152 (GRCm39) D24N probably damaging Het
Ccnt1 G A 15: 98,441,159 (GRCm39) T703I probably benign Het
Cd46 T C 1: 194,774,479 (GRCm39) S19G possibly damaging Het
Cdc25b G A 2: 131,034,564 (GRCm39) E264K possibly damaging Het
Cdhr17 A T 5: 17,040,916 (GRCm39) probably null Het
Cog5 A C 12: 31,710,810 (GRCm39) K63N possibly damaging Het
Col28a1 G A 6: 8,022,765 (GRCm39) T726I probably benign Het
Dhx40 A G 11: 86,690,365 (GRCm39) S219P probably damaging Het
Dnah12 T A 14: 26,536,569 (GRCm39) W2162R probably damaging Het
Eef1a2 A G 2: 180,789,774 (GRCm39) *464R probably null Het
Eif1a T A 18: 46,741,036 (GRCm39) D90E probably damaging Het
Fasn C T 11: 120,706,496 (GRCm39) R996Q possibly damaging Het
Foxred2 A G 15: 77,839,787 (GRCm39) probably null Het
Frat2 A G 19: 41,835,806 (GRCm39) L182P probably damaging Het
Fxyd2 G T 9: 45,319,609 (GRCm39) V24F probably damaging Het
Gabrd C T 4: 155,470,496 (GRCm39) V319I probably damaging Het
H13 T G 2: 152,533,788 (GRCm39) V267G possibly damaging Het
Hnf4g T C 3: 3,573,378 (GRCm39) probably benign Het
Iglon5 T A 7: 43,125,421 (GRCm39) T272S possibly damaging Het
Iqgap2 T A 13: 95,844,547 (GRCm39) M454L probably benign Het
Irf8 T C 8: 121,480,400 (GRCm39) C304R probably benign Het
Itga2 A G 13: 115,001,941 (GRCm39) F614L probably benign Het
Itgb4 A C 11: 115,874,879 (GRCm39) H412P probably benign Het
Jarid2 T C 13: 45,064,678 (GRCm39) F921S probably damaging Het
Kctd13 A G 7: 126,541,327 (GRCm39) D189G probably damaging Het
Meis2 G T 2: 115,697,756 (GRCm39) P381T probably benign Het
Mertk G T 2: 128,624,487 (GRCm39) A633S probably damaging Het
Morn5 A G 2: 35,942,993 (GRCm39) Y31C probably damaging Het
Mug2 A T 6: 122,017,627 (GRCm39) T455S possibly damaging Het
Myo3a A G 2: 22,404,744 (GRCm39) N700S probably benign Het
Nisch T C 14: 30,896,782 (GRCm39) T807A unknown Het
Nkx1-1 A T 5: 33,588,703 (GRCm39) V195E unknown Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup160 A G 2: 90,514,429 (GRCm39) T126A possibly damaging Het
Oca2 C T 7: 55,943,586 (GRCm39) T253I probably benign Het
Odad2 T C 18: 7,286,733 (GRCm39) K166R possibly damaging Het
Or6c209 T A 10: 129,483,306 (GRCm39) I103N possibly damaging Het
P4ha1 A G 10: 59,203,112 (GRCm39) K435R probably damaging Het
Pcdhgb4 T A 18: 37,854,131 (GRCm39) N175K possibly damaging Het
Per3 A G 4: 151,111,796 (GRCm39) L396P probably benign Het
Phactr3 A T 2: 177,925,739 (GRCm39) E338V possibly damaging Het
Plec G T 15: 76,064,725 (GRCm39) R1782S unknown Het
Prpf39 A T 12: 65,106,671 (GRCm39) Q593L probably damaging Het
Ptprq T C 10: 107,416,126 (GRCm39) Y1724C probably damaging Het
Pygo1 T A 9: 72,852,143 (GRCm39) V110D possibly damaging Het
Rasgrf1 T A 9: 89,826,790 (GRCm39) L133Q probably damaging Het
Rgs10 G A 7: 127,975,733 (GRCm39) R145C probably damaging Het
Secisbp2 A G 13: 51,833,855 (GRCm39) Y665C possibly damaging Het
Sel1l3 T A 5: 53,293,188 (GRCm39) T843S probably benign Het
Senp7 G A 16: 56,006,486 (GRCm39) V964I probably benign Het
Setd4 T A 16: 93,384,722 (GRCm39) D322V possibly damaging Het
Sftpc T A 14: 70,759,650 (GRCm39) T90S probably benign Het
Shq1 A T 6: 100,588,738 (GRCm39) D382E probably damaging Het
Sim1 A G 10: 50,772,029 (GRCm39) R13G probably damaging Het
Slc12a1 T G 2: 125,002,989 (GRCm39) probably benign Het
Stk38l A G 6: 146,660,048 (GRCm39) T27A probably benign Het
Tasp1 A G 2: 139,899,327 (GRCm39) S9P probably damaging Het
Tcstv1a T A 13: 120,355,290 (GRCm39) D114V probably damaging Het
Tmigd1 A T 11: 76,795,468 (GRCm39) R25S probably benign Het
Tnrc6a T A 7: 122,773,519 (GRCm39) Y1154N probably damaging Het
Tox2 T C 2: 163,045,091 (GRCm39) V3A Het
Ubr1 A T 2: 120,756,469 (GRCm39) D719E probably benign Het
Ubr3 A G 2: 69,795,822 (GRCm39) K923R Het
Vmn2r12 C T 5: 109,234,203 (GRCm39) V670M probably damaging Het
Zfp983 T C 17: 21,876,522 (GRCm39) S9P probably benign Het
Zfp986 A T 4: 145,626,030 (GRCm39) H230L probably damaging Het
Zscan4f G A 7: 11,135,241 (GRCm39) E216K probably benign 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
R6809:Slc27a6 UTSW 18 58,738,126 (GRCm39) missense probably benign 0.00
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
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'- GACTTACAAGCGAAATCCTTTCTCC -3'
(R):5'- GGCTGAAGTTTGCAGAACCC -3'

Sequencing Primer
(F):5'- TCCTTTCTCCTAACAGAGAGAAGGG -3'
(R):5'- TGAAGTTTGCAGAACCCACAGC -3'
Posted On 2022-01-20