Incidental Mutation 'R0178:Slc27a1'
ID 23769
Institutional Source Beutler Lab
Gene Symbol Slc27a1
Ensembl Gene ENSMUSG00000031808
Gene Name solute carrier family 27 (fatty acid transporter), member 1
Synonyms FATP1, Fatp
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0178 (G1)
Quality Score 218
Status Validated (trace)
Chromosome 8
Chromosomal Location 72021526-72039946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72037106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 417 (Y417H)
Ref Sequence ENSEMBL: ENSMUSP00000148768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034267] [ENSMUST00000212111] [ENSMUST00000212889] [ENSMUST00000213100]
AlphaFold Q60714
Predicted Effect possibly damaging
Transcript: ENSMUST00000034267
AA Change: Y417H

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034267
Gene: ENSMUSG00000031808
AA Change: Y417H

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:AMP-binding 82 515 2.1e-71 PFAM
Pfam:AMP-binding_C 523 598 2.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211886
Predicted Effect probably benign
Transcript: ENSMUST00000212111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212225
Predicted Effect possibly damaging
Transcript: ENSMUST00000212889
AA Change: Y417H

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000213100
Meta Mutation Damage Score 0.2707 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
MGI Phenotype PHENOTYPE: Homozygous null mutants are protected from fat-induced insulin resistance and intramuscular accumulation of fatty acid metabolites without alterations in whole body adiposity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Slc27a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Slc27a1 APN 8 72,037,416 (GRCm39) critical splice donor site probably null
IGL02974:Slc27a1 APN 8 72,036,847 (GRCm39) missense probably damaging 0.99
IGL03371:Slc27a1 APN 8 72,038,052 (GRCm39) missense probably benign 0.20
R0508:Slc27a1 UTSW 8 72,032,872 (GRCm39) unclassified probably benign
R0600:Slc27a1 UTSW 8 72,036,808 (GRCm39) missense probably damaging 1.00
R1169:Slc27a1 UTSW 8 72,033,297 (GRCm39) missense probably benign 0.01
R1445:Slc27a1 UTSW 8 72,036,757 (GRCm39) splice site probably null
R1708:Slc27a1 UTSW 8 72,037,274 (GRCm39) splice site probably null
R1737:Slc27a1 UTSW 8 72,023,504 (GRCm39) missense probably benign 0.05
R1850:Slc27a1 UTSW 8 72,033,347 (GRCm39) critical splice donor site probably null
R2419:Slc27a1 UTSW 8 72,032,560 (GRCm39) missense possibly damaging 0.81
R3817:Slc27a1 UTSW 8 72,037,122 (GRCm39) missense probably damaging 1.00
R3967:Slc27a1 UTSW 8 72,032,431 (GRCm39) missense probably damaging 1.00
R4243:Slc27a1 UTSW 8 72,037,617 (GRCm39) missense probably benign 0.00
R4244:Slc27a1 UTSW 8 72,037,617 (GRCm39) missense probably benign 0.00
R4552:Slc27a1 UTSW 8 72,032,710 (GRCm39) splice site probably null
R4649:Slc27a1 UTSW 8 72,023,408 (GRCm39) missense probably benign 0.11
R4748:Slc27a1 UTSW 8 72,033,453 (GRCm39) missense possibly damaging 0.94
R4748:Slc27a1 UTSW 8 72,033,319 (GRCm39) missense probably damaging 0.97
R5273:Slc27a1 UTSW 8 72,036,900 (GRCm39) missense probably benign 0.07
R5913:Slc27a1 UTSW 8 72,036,907 (GRCm39) missense probably benign 0.31
R6958:Slc27a1 UTSW 8 72,038,083 (GRCm39) missense possibly damaging 0.49
R7198:Slc27a1 UTSW 8 72,032,071 (GRCm39) missense possibly damaging 0.94
R7212:Slc27a1 UTSW 8 72,037,092 (GRCm39) missense probably damaging 1.00
R8210:Slc27a1 UTSW 8 72,032,566 (GRCm39) missense probably benign 0.01
R8822:Slc27a1 UTSW 8 72,033,308 (GRCm39) missense probably damaging 1.00
R9451:Slc27a1 UTSW 8 72,032,808 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAAATCTGCCGCTACCTGCTG -3'
(R):5'- GAAAACGCTGTGGGCAATCTTCTTG -3'

Sequencing Primer
(F):5'- ACAGATCGGCGAGTTCTAC -3'
(R):5'- gatctggcccacgagaag -3'
Posted On 2013-04-16