Incidental Mutation 'IGL02324:Slc27a5'
ID288374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc27a5
Ensembl Gene ENSMUSG00000030382
Gene Namesolute carrier family 27 (fatty acid transporter), member 5
SynonymsVLCSH2, FATP5, FACVL3, VLCS-H2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02324
Quality Score
Status
Chromosome7
Chromosomal Location12988346-12998192 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12997560 bp
ZygosityHeterozygous
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]
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: 151,497,874 C124S probably damaging Het
Aldh1a7 T C 19: 20,727,004 N42S probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
C1qb C A 4: 136,880,500 R184L possibly damaging Het
Cacna1s A G 1: 136,075,176 probably benign Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Copg2 C A 6: 30,863,534 probably null Het
Cyp2d40 A T 15: 82,760,948 probably benign Het
Cyp2j6 A G 4: 96,525,933 I365T probably damaging Het
Dhx29 A G 13: 112,927,808 K6E probably damaging Het
Dpp10 T A 1: 123,367,802 T539S probably benign Het
Ehbp1 A T 11: 22,096,048 I542K probably damaging Het
Fat1 A G 8: 45,040,556 Y3913C probably damaging Het
Flt4 C T 11: 49,645,995 T1264I probably benign Het
Fmnl1 A G 11: 103,179,538 D51G probably damaging Het
Gm17093 A G 14: 44,518,350 T25A unknown Het
Gpatch2 A G 1: 187,225,739 E97G probably damaging Het
Hcn1 T C 13: 117,902,886 L446P unknown Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Krtap16-1 C T 11: 99,986,303 V92M probably damaging Het
Med23 A T 10: 24,897,341 Q281L probably damaging Het
Megf8 T C 7: 25,340,448 S963P probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mycbp2 A G 14: 103,242,207 S1217P probably damaging Het
Myocd C A 11: 65,178,658 L785F probably benign Het
Nell2 T C 15: 95,229,101 T798A probably damaging Het
Nfat5 T C 8: 107,366,176 probably benign Het
Olfm5 T C 7: 104,154,095 probably null Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
P2ry1 A T 3: 61,003,778 N113Y possibly damaging Het
Pan3 A G 5: 147,530,123 probably null Het
Pappa A G 4: 65,196,808 R714G probably damaging Het
Plcd1 A G 9: 119,072,642 F579L probably damaging Het
Ptprb T C 10: 116,319,333 V664A probably benign Het
Spag8 T C 4: 43,651,781 E395G probably damaging Het
Stfa2l1 T C 16: 36,161,768 Y70H probably damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tnfrsf25 C A 4: 152,119,322 Q296K probably damaging Het
Trpm3 T A 19: 22,698,779 I103N probably benign Het
Other mutations in Slc27a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Slc27a5 APN 7 12988639 missense probably benign 0.08
IGL00906:Slc27a5 APN 7 12991057 missense probably benign 0.00
IGL01067:Slc27a5 APN 7 12989072 missense probably damaging 1.00
IGL02101:Slc27a5 APN 7 12993343 missense possibly damaging 0.95
IGL02148:Slc27a5 APN 7 12994951 missense probably damaging 0.97
IGL02165:Slc27a5 APN 7 12994948 missense probably damaging 0.99
IGL02879:Slc27a5 APN 7 12995044 splice site probably benign
R1519:Slc27a5 UTSW 7 12988459 splice site probably null
R1662:Slc27a5 UTSW 7 12991246 missense probably damaging 1.00
R1774:Slc27a5 UTSW 7 12997607 nonsense probably null
R2012:Slc27a5 UTSW 7 12997707 missense probably damaging 0.98
R2020:Slc27a5 UTSW 7 12993412 missense probably damaging 1.00
R2886:Slc27a5 UTSW 7 12989560 unclassified probably benign
R4234:Slc27a5 UTSW 7 12988443 missense probably benign 0.01
R4855:Slc27a5 UTSW 7 12988633 missense probably benign 0.00
R5126:Slc27a5 UTSW 7 12991320 missense probably damaging 1.00
R5450:Slc27a5 UTSW 7 12994942 missense probably benign 0.04
R5712:Slc27a5 UTSW 7 12998083 unclassified probably benign
R6302:Slc27a5 UTSW 7 12988552 missense probably damaging 1.00
R6346:Slc27a5 UTSW 7 12990972 missense possibly damaging 0.75
R6866:Slc27a5 UTSW 7 12997516 missense probably benign 0.00
R6921:Slc27a5 UTSW 7 12991208 missense probably damaging 1.00
R7329:Slc27a5 UTSW 7 12991162 missense possibly damaging 0.75
Posted On2015-04-16