Incidental Mutation 'IGL01067:Slc27a5'
ID51436
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: 0.158) question?
Stock #IGL01067
Quality Score
Status
Chromosome7
Chromosomal Location12988346-12998192 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12989072 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 567 (E567G)
Ref Sequence ENSEMBL: ENSMUSP00000032539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032539] [ENSMUST00000045810] [ENSMUST00000108536] [ENSMUST00000120903]
Predicted Effect probably damaging
Transcript: ENSMUST00000032539
AA Change: E567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: E567G

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
A330008L17Rik T C 8: 99,421,954 noncoding transcript Het
Acp4 C T 7: 44,253,452 V331I probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Alg6 T C 4: 99,741,570 V128A probably benign Het
Ank3 A G 10: 69,850,196 K280E probably damaging Het
Bfar T C 16: 13,685,241 C36R probably damaging Het
Car14 A G 3: 95,898,816 I311T probably damaging Het
Cd300c T C 11: 114,960,427 probably benign Het
Cfap100 T A 6: 90,406,114 E513V probably damaging Het
Clip1 C A 5: 123,630,804 K612N probably damaging Het
Depdc5 A G 5: 32,899,067 probably null Het
Dock3 A T 9: 107,082,373 probably null Het
Dph6 A T 2: 114,647,809 M17K probably damaging Het
Enkur T C 2: 21,189,231 Q177R probably benign Het
Faap100 T C 11: 120,372,132 H800R probably damaging Het
Fastkd2 T G 1: 63,737,771 probably benign Het
Fcgr2b A T 1: 170,968,053 N102K possibly damaging Het
Fezf1 C T 6: 23,247,843 V78I possibly damaging Het
Fmn2 A T 1: 174,503,319 D425V unknown Het
Fnta G A 8: 26,007,201 Q207* probably null Het
Fpr3 T A 17: 17,970,566 V33D probably benign Het
Fshr C T 17: 88,985,393 C619Y possibly damaging Het
Gbp3 T C 3: 142,566,597 probably null Het
Gjb2 A G 14: 57,100,172 V193A possibly damaging Het
Il4ra A G 7: 125,575,161 T292A probably benign Het
Lama5 A G 2: 180,176,543 probably benign Het
Marveld3 G T 8: 109,961,964 D48E possibly damaging Het
Meox1 A T 11: 101,893,773 I78N probably benign Het
Ncor1 A T 11: 62,392,528 H444Q probably damaging Het
Ndst3 T C 3: 123,546,817 Q784R probably damaging Het
Olfr1123 A G 2: 87,418,370 I107M probably benign Het
Olfr1294 T A 2: 111,538,014 I92F probably damaging Het
Pld5 A T 1: 176,274,879 probably benign Het
Plk1 G A 7: 122,168,925 R456H probably damaging Het
Polr2a T A 11: 69,748,014 I65F possibly damaging Het
Ptprd T A 4: 76,059,685 I196F probably damaging Het
Qsox2 T C 2: 26,228,396 N121S probably damaging Het
Reln A G 5: 21,979,666 L1617S probably damaging Het
Rragc T C 4: 123,929,968 F345L probably benign Het
Sass6 A T 3: 116,613,956 E240D possibly damaging Het
Shcbp1l A C 1: 153,436,024 S308R possibly damaging Het
Slc1a5 T A 7: 16,786,879 C224* probably null Het
Synj2 T A 17: 6,037,926 N1417K possibly damaging Het
Tbc1d9 A G 8: 83,234,162 T214A probably damaging Het
Tjp3 C A 10: 81,273,865 V835L probably benign Het
Trpc4 C A 3: 54,222,562 Q250K probably benign Het
Ttn A T 2: 76,745,162 I25129N probably damaging Het
Ube4a T A 9: 44,944,865 Y523F probably damaging Het
Zfp971 G A 2: 178,023,382 probably null 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
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
IGL02324:Slc27a5 APN 7 12997560 missense probably benign 0.00
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
R8017:Slc27a5 UTSW 7 12989402 missense probably damaging 1.00
R8019:Slc27a5 UTSW 7 12989402 missense probably damaging 1.00
R8312:Slc27a5 UTSW 7 12991287 missense probably damaging 1.00
R8793:Slc27a5 UTSW 7 12989369 missense probably benign 0.16
Z1177:Slc27a5 UTSW 7 12988855 missense probably damaging 1.00
Posted On2013-06-21