Incidental Mutation 'IGL02324:Slc27a5'
ID 288374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc27a5
Ensembl Gene ENSMUSG00000030382
Gene Name solute carrier family 27 (fatty acid transporter), member 5
Synonyms VLCSH2, FACVL3, VLCS-H2, FATP5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02324
Quality Score
Status
Chromosome 7
Chromosomal Location 12722273-12732119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12731487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 168 (Q168L)
Ref Sequence ENSEMBL: ENSMUSP00000112495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032539] [ENSMUST00000120903]
AlphaFold Q4LDG0
Predicted Effect probably benign
Transcript: ENSMUST00000032539
AA Change: Q168L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: Q168L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 58 77 N/A INTRINSIC
Pfam:AMP-binding 119 557 1.3e-64 PFAM
Pfam:AMP-binding_C 565 641 1.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120903
AA Change: Q168L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382
AA Change: Q168L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 58 77 N/A INTRINSIC
Pfam:AMP-binding 119 414 2e-42 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133977
AA Change: Q39L
SMART Domains Protein: ENSMUSP00000117208
Gene: ENSMUSG00000030382
AA Change: Q39L

DomainStartEndE-ValueType
Pfam:AMP-binding 1 102 3.3e-8 PFAM
Pfam:AMP-binding 100 195 1.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209577
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,203,511 (GRCm39) C124S probably damaging Het
Aldh1a7 T C 19: 20,704,368 (GRCm39) N42S probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
C1qb C A 4: 136,607,811 (GRCm39) R184L possibly damaging Het
Cacna1s A G 1: 136,002,914 (GRCm39) probably benign Het
Cdk20 A G 13: 64,585,734 (GRCm39) E244G probably benign Het
Copg2 C A 6: 30,840,469 (GRCm39) probably null Het
Cyp2d40 A T 15: 82,645,149 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,414,170 (GRCm39) I365T probably damaging Het
Dhx29 A G 13: 113,064,342 (GRCm39) K6E probably damaging Het
Dpp10 T A 1: 123,295,531 (GRCm39) T539S probably benign Het
Ehbp1 A T 11: 22,046,048 (GRCm39) I542K probably damaging Het
Fat1 A G 8: 45,493,593 (GRCm39) Y3913C probably damaging Het
Flt4 C T 11: 49,536,822 (GRCm39) T1264I probably benign Het
Fmnl1 A G 11: 103,070,364 (GRCm39) D51G probably damaging Het
Gm17093 A G 14: 44,755,807 (GRCm39) T25A unknown Het
Gpatch2 A G 1: 186,957,936 (GRCm39) E97G probably damaging Het
Hcn1 T C 13: 118,039,422 (GRCm39) L446P unknown Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Krtap16-1 C T 11: 99,877,129 (GRCm39) V92M probably damaging Het
Med23 A T 10: 24,773,239 (GRCm39) Q281L probably damaging Het
Megf8 T C 7: 25,039,873 (GRCm39) S963P probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mycbp2 A G 14: 103,479,643 (GRCm39) S1217P probably damaging Het
Myocd C A 11: 65,069,484 (GRCm39) L785F probably benign Het
Nell2 T C 15: 95,126,982 (GRCm39) T798A probably damaging Het
Nfat5 T C 8: 108,092,808 (GRCm39) probably benign Het
Olfm5 T C 7: 103,803,302 (GRCm39) probably null Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
P2ry1 A T 3: 60,911,199 (GRCm39) N113Y possibly damaging Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pappa A G 4: 65,115,045 (GRCm39) R714G probably damaging Het
Plcd1 A G 9: 118,901,710 (GRCm39) F579L probably damaging Het
Ptprb T C 10: 116,155,238 (GRCm39) V664A probably benign Het
Spag8 T C 4: 43,651,781 (GRCm39) E395G probably damaging Het
Stfa2l1 T C 16: 35,982,138 (GRCm39) Y70H probably damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tnfrsf25 C A 4: 152,203,779 (GRCm39) Q296K probably damaging Het
Trpm3 T A 19: 22,676,143 (GRCm39) I103N probably benign Het
Other mutations in Slc27a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Slc27a5 APN 7 12,722,566 (GRCm39) missense probably benign 0.08
IGL00906:Slc27a5 APN 7 12,724,984 (GRCm39) missense probably benign 0.00
IGL01067:Slc27a5 APN 7 12,722,999 (GRCm39) missense probably damaging 1.00
IGL02101:Slc27a5 APN 7 12,727,270 (GRCm39) missense possibly damaging 0.95
IGL02148:Slc27a5 APN 7 12,728,878 (GRCm39) missense probably damaging 0.97
IGL02165:Slc27a5 APN 7 12,728,875 (GRCm39) missense probably damaging 0.99
IGL02879:Slc27a5 APN 7 12,728,971 (GRCm39) splice site probably benign
R1519:Slc27a5 UTSW 7 12,722,386 (GRCm39) splice site probably null
R1662:Slc27a5 UTSW 7 12,725,173 (GRCm39) missense probably damaging 1.00
R1774:Slc27a5 UTSW 7 12,731,534 (GRCm39) nonsense probably null
R2012:Slc27a5 UTSW 7 12,731,634 (GRCm39) missense probably damaging 0.98
R2020:Slc27a5 UTSW 7 12,727,339 (GRCm39) missense probably damaging 1.00
R2886:Slc27a5 UTSW 7 12,723,487 (GRCm39) unclassified probably benign
R4234:Slc27a5 UTSW 7 12,722,370 (GRCm39) missense probably benign 0.01
R4855:Slc27a5 UTSW 7 12,722,560 (GRCm39) missense probably benign 0.00
R5126:Slc27a5 UTSW 7 12,725,247 (GRCm39) missense probably damaging 1.00
R5450:Slc27a5 UTSW 7 12,728,869 (GRCm39) missense probably benign 0.04
R5712:Slc27a5 UTSW 7 12,732,010 (GRCm39) unclassified probably benign
R6302:Slc27a5 UTSW 7 12,722,479 (GRCm39) missense probably damaging 1.00
R6346:Slc27a5 UTSW 7 12,724,899 (GRCm39) missense possibly damaging 0.75
R6866:Slc27a5 UTSW 7 12,731,443 (GRCm39) missense probably benign 0.00
R6921:Slc27a5 UTSW 7 12,725,135 (GRCm39) missense probably damaging 1.00
R7329:Slc27a5 UTSW 7 12,725,089 (GRCm39) missense possibly damaging 0.75
R8017:Slc27a5 UTSW 7 12,723,329 (GRCm39) missense probably damaging 1.00
R8019:Slc27a5 UTSW 7 12,723,329 (GRCm39) missense probably damaging 1.00
R8312:Slc27a5 UTSW 7 12,725,214 (GRCm39) missense probably damaging 1.00
R8793:Slc27a5 UTSW 7 12,723,296 (GRCm39) missense probably benign 0.16
R8966:Slc27a5 UTSW 7 12,725,090 (GRCm39) missense probably benign 0.00
R8980:Slc27a5 UTSW 7 12,725,090 (GRCm39) missense probably benign 0.00
R9066:Slc27a5 UTSW 7 12,722,530 (GRCm39) missense possibly damaging 0.64
R9106:Slc27a5 UTSW 7 12,725,097 (GRCm39) missense probably benign 0.21
R9191:Slc27a5 UTSW 7 12,725,247 (GRCm39) missense probably damaging 1.00
R9275:Slc27a5 UTSW 7 12,731,640 (GRCm39) missense probably damaging 1.00
Z1177:Slc27a5 UTSW 7 12,722,782 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16