Incidental Mutation 'IGL00592:Slc27a5'
ID 14076
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 # IGL00592
Quality Score
Status
Chromosome 7
Chromosomal Location 12722273-12732119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12722566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 636 (I636T)
Ref Sequence ENSEMBL: ENSMUSP00000032539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032539] [ENSMUST00000045810] [ENSMUST00000108536] [ENSMUST00000120903]
AlphaFold Q4LDG0
Predicted Effect probably benign
Transcript: ENSMUST00000032539
AA Change: I636T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: I636T

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: ENSMUST00000045810
SMART Domains Protein: ENSMUSP00000039073
Gene: ENSMUSG00000033961

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
SCAN 122 234 1.29e-53 SMART
KRAB 299 360 3.96e-2 SMART
ZnF_C2H2 419 441 2.95e-3 SMART
ZnF_C2H2 468 490 8.47e-4 SMART
ZnF_C2H2 496 518 5.34e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108536
SMART Domains Protein: ENSMUSP00000104176
Gene: ENSMUSG00000033961

DomainStartEndE-ValueType
SCAN 22 134 1.29e-53 SMART
KRAB 199 260 3.96e-2 SMART
ZnF_C2H2 319 341 2.95e-3 SMART
ZnF_C2H2 368 390 8.47e-4 SMART
ZnF_C2H2 396 418 5.34e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120903
SMART Domains Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382

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 noncoding transcript
Transcript: ENSMUST00000128427
Predicted Effect probably benign
Transcript: ENSMUST00000133977
SMART Domains Protein: ENSMUSP00000117208
Gene: ENSMUSG00000030382

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
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,126,397 (GRCm39) I91V probably damaging Het
Ak6 T C 13: 100,800,599 (GRCm39) V74A probably benign Het
Antxr1 C A 6: 87,265,784 (GRCm39) V110F probably damaging Het
Anxa1 T C 19: 20,355,033 (GRCm39) D247G probably benign Het
Dgkg T C 16: 22,298,112 (GRCm39) probably benign Het
Eva1b T C 4: 126,043,443 (GRCm39) M161T probably benign Het
Fbxw22 C A 9: 109,213,108 (GRCm39) V280F possibly damaging Het
Klhl9 A G 4: 88,639,378 (GRCm39) S288P probably damaging Het
Masp2 C T 4: 148,687,186 (GRCm39) P23S probably benign Het
Ncam1 T A 9: 49,434,865 (GRCm39) D600V probably damaging Het
Pcnx4 A G 12: 72,626,139 (GRCm39) N1115S probably damaging Het
Pdia2 A G 17: 26,417,090 (GRCm39) V109A probably damaging Het
Pla1a G T 16: 38,235,212 (GRCm39) H161N probably damaging Het
Prokr2 A T 2: 132,223,424 (GRCm39) D39E probably benign Het
Sall4 T C 2: 168,597,883 (GRCm39) D319G probably damaging Het
Sgms2 A G 3: 131,135,482 (GRCm39) S131P possibly damaging Het
Slc22a2 A T 17: 12,827,305 (GRCm39) Q319L possibly damaging Het
Tas2r131 T G 6: 132,934,159 (GRCm39) T217P probably damaging Het
Trh T C 6: 92,219,723 (GRCm39) M198V possibly damaging Het
Ube2b A C 11: 51,877,546 (GRCm39) V141G probably damaging Het
Ube2l6 T A 2: 84,639,373 (GRCm39) V112E probably damaging Het
Vmn1r79 T C 7: 11,910,934 (GRCm39) I272T probably benign Het
Xylb C T 9: 119,219,549 (GRCm39) Q513* probably null Het
Zbtb4 T A 11: 69,667,557 (GRCm39) C287* probably null Het
Other mutations in Slc27a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02324:Slc27a5 APN 7 12,731,487 (GRCm39) missense probably benign 0.00
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 2012-12-06