Incidental Mutation 'IGL02612:Slc27a6'
ID300519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc27a6
Ensembl Gene ENSMUSG00000024600
Gene Namesolute carrier family 27 (fatty acid transporter), member 6
Synonyms4732438L20Rik, FATP6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02612
Quality Score
Status
Chromosome18
Chromosomal Location58556257-58612773 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58556905 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 148 (I148F)
Ref Sequence ENSEMBL: ENSMUSP00000025500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025500]
Predicted Effect probably benign
Transcript: ENSMUST00000025500
AA Change: I148F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: I148F

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
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,678,012 M1432L probably benign Het
Alg11 A G 8: 22,061,983 R48G probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Bmp4 T A 14: 46,384,481 D202V probably damaging Het
Car12 T G 9: 66,762,424 L300R probably damaging Het
Cdc37l1 T A 19: 29,016,102 *336R probably null Het
Cep89 A G 7: 35,424,655 probably null Het
Ces3b T A 8: 105,085,269 D103E possibly damaging Het
Chd5 A G 4: 152,360,576 D338G probably damaging Het
Crot A G 5: 8,969,945 C466R probably damaging Het
Dach2 T C X: 113,750,404 M194T probably benign Het
Dmrtc1b A G X: 102,713,267 D100G probably benign Het
Epm2a G A 10: 11,457,236 R271H probably damaging Het
Fem1c G T 18: 46,505,714 T407K probably benign Het
Fer1l4 T C 2: 156,047,928 Y273C probably damaging Het
Foxc2 C A 8: 121,117,837 A408E probably benign Het
Gbp10 A T 5: 105,218,502 M512K possibly damaging Het
Gm17677 T C 9: 35,742,164 I88T possibly damaging Het
Gm21671 A C 5: 25,951,616 Y122D probably benign Het
Gm5134 T C 10: 75,992,489 L301P probably damaging Het
Grk3 A T 5: 112,969,234 D100E probably benign Het
Gsdma3 T A 11: 98,635,881 D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 L680I possibly damaging Het
Ighv7-2 T C 12: 113,912,146 Y79C probably damaging Het
Igkv4-50 T C 6: 69,701,040 T27A probably benign Het
Ints2 T C 11: 86,215,578 D1002G probably damaging Het
Map4k5 T A 12: 69,849,584 I169F possibly damaging Het
Mink1 T C 11: 70,597,226 V39A probably damaging Het
Mms22l T A 4: 24,508,482 H301Q probably benign Het
Myh4 C T 11: 67,256,479 T1650I probably benign Het
Olfr658 A T 7: 104,644,663 D234E probably benign Het
Olfr884 T A 9: 38,047,366 L48Q probably damaging Het
Olfr907 T C 9: 38,499,473 M268T probably benign Het
Pbxip1 C T 3: 89,443,681 T117M probably damaging Het
Pgghg C T 7: 140,946,338 T572M probably damaging Het
Phactr2 G A 10: 13,245,423 T511I probably damaging Het
Pip5k1a T C 3: 95,067,413 I385V probably benign Het
Pwp2 A G 10: 78,182,994 C60R probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rttn G T 18: 88,973,626 D110Y probably damaging Het
Setbp1 G T 18: 78,755,710 H1418Q probably damaging Het
Sf3b3 T C 8: 110,842,976 I37V probably benign Het
Slmap A G 14: 26,459,466 probably benign Het
Stil A G 4: 115,023,696 Q479R possibly damaging Het
Svop A G 5: 114,028,260 *549Q probably null Het
Tnks C T 8: 34,849,299 V889I possibly damaging Het
Tnrc6c T A 11: 117,743,000 V1308E possibly damaging Het
Vmn1r208 C A 13: 22,772,823 C168F probably damaging Het
Vmn2r117 A T 17: 23,459,784 M822K possibly damaging Het
Vwa8 A G 14: 79,183,112 N1751S probably benign Het
Vwde A T 6: 13,187,149 F780I probably damaging Het
Washc2 T C 6: 116,220,616 I184T possibly damaging Het
Wdr26 A T 1: 181,177,796 probably benign Het
Zfp608 G A 18: 54,898,201 T889M probably damaging Het
Zfp955a G T 17: 33,244,065 Q31K probably damaging Het
Zpbp2 T C 11: 98,555,517 L145S probably benign Het
Other mutations in Slc27a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Slc27a6 APN 18 58556764 missense probably benign
IGL01419:Slc27a6 APN 18 58609209 missense probably benign 0.00
IGL01638:Slc27a6 APN 18 58607813 missense probably damaging 1.00
IGL02067:Slc27a6 APN 18 58612191 missense probably benign 0.00
IGL03118:Slc27a6 APN 18 58556743 missense probably benign 0.00
R0096:Slc27a6 UTSW 18 58598757 splice site probably benign
R0096:Slc27a6 UTSW 18 58598757 splice site probably benign
R0255:Slc27a6 UTSW 18 58609865 missense possibly damaging 0.69
R0449:Slc27a6 UTSW 18 58609165 splice site probably null
R0599:Slc27a6 UTSW 18 58556813 missense probably damaging 1.00
R0711:Slc27a6 UTSW 18 58598757 splice site probably benign
R1082:Slc27a6 UTSW 18 58556560 missense probably damaging 0.97
R1560:Slc27a6 UTSW 18 58579832 nonsense probably null
R1942:Slc27a6 UTSW 18 58556798 missense probably damaging 0.99
R2424:Slc27a6 UTSW 18 58605117 missense probably benign 0.20
R3796:Slc27a6 UTSW 18 58598751 splice site probably benign
R4718:Slc27a6 UTSW 18 58605066 missense probably benign 0.03
R4803:Slc27a6 UTSW 18 58572033 missense possibly damaging 0.59
R5714:Slc27a6 UTSW 18 58598553 missense probably damaging 0.97
R5773:Slc27a6 UTSW 18 58582173 missense probably damaging 1.00
R5996:Slc27a6 UTSW 18 58612234 missense possibly damaging 0.89
R6049:Slc27a6 UTSW 18 58598660 missense probably damaging 1.00
R6441:Slc27a6 UTSW 18 58572058 missense probably benign 0.06
R6701:Slc27a6 UTSW 18 58579875 missense probably benign 0.01
R6703:Slc27a6 UTSW 18 58609839 missense probably benign 0.19
R6809:Slc27a6 UTSW 18 58605054 missense probably benign 0.00
R7514:Slc27a6 UTSW 18 58612221 nonsense probably null
R7536:Slc27a6 UTSW 18 58556626 missense probably damaging 1.00
R7615:Slc27a6 UTSW 18 58609183 missense probably damaging 1.00
R7808:Slc27a6 UTSW 18 58609195 missense probably damaging 1.00
Posted On2015-04-16