Incidental Mutation 'IGL01313:Slc27a3'
ID 73731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc27a3
Ensembl Gene ENSMUSG00000027932
Gene Name solute carrier family 27 (fatty acid transporter), member 3
Synonyms fatty acid transport protein 3, Acsvl3, FATP3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01313
Quality Score
Status
Chromosome 3
Chromosomal Location 90292546-90297245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90293861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 541 (T541K)
Ref Sequence ENSEMBL: ENSMUSP00000029541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541] [ENSMUST00000029542] [ENSMUST00000071488]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029541
AA Change: T541K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: T541K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 38 56 N/A INTRINSIC
Pfam:AMP-binding 138 535 9.2e-62 PFAM
Pfam:AMP-binding_C 543 619 9.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029542
SMART Domains Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
Pfam:DUF2356 269 493 6e-110 PFAM
low complexity region 557 568 N/A INTRINSIC
low complexity region 632 647 N/A INTRINSIC
low complexity region 666 678 N/A INTRINSIC
coiled coil region 913 940 N/A INTRINSIC
low complexity region 1006 1019 N/A INTRINSIC
low complexity region 1021 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071488
SMART Domains Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
Pfam:DUF2356 269 493 6e-110 PFAM
low complexity region 557 568 N/A INTRINSIC
low complexity region 632 647 N/A INTRINSIC
low complexity region 666 678 N/A INTRINSIC
coiled coil region 913 940 N/A INTRINSIC
low complexity region 1006 1019 N/A INTRINSIC
low complexity region 1021 1031 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127064
Predicted Effect unknown
Transcript: ENSMUST00000132041
AA Change: T506K
SMART Domains Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: T506K

DomainStartEndE-ValueType
low complexity region 40 64 N/A INTRINSIC
low complexity region 68 89 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
Pfam:AMP-binding 147 501 5.3e-50 PFAM
Pfam:AMP-binding_C 509 585 2.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153978
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,969 (GRCm39) probably null Het
Abca7 T A 10: 79,838,957 (GRCm39) probably benign Het
Acvr1c T G 2: 58,205,986 (GRCm39) Q41H probably benign Het
Apob A T 12: 8,050,898 (GRCm39) N1041Y probably damaging Het
Asb5 A T 8: 55,038,798 (GRCm39) probably benign Het
Asxl3 A T 18: 22,650,516 (GRCm39) E835V probably benign Het
Ccdc73 A T 2: 104,737,972 (GRCm39) M23L probably benign Het
Cep170b G A 12: 112,702,086 (GRCm39) R293H probably damaging Het
Chd8 C A 14: 52,448,032 (GRCm39) L316F probably damaging Het
Cldn13 T C 5: 134,944,114 (GRCm39) S24G possibly damaging Het
Cnot10 A T 9: 114,460,923 (GRCm39) N82K probably benign Het
Colec10 G A 15: 54,323,157 (GRCm39) V127M probably damaging Het
Cyp2d40 T C 15: 82,645,478 (GRCm39) S130G unknown Het
Ddx60 T A 8: 62,435,560 (GRCm39) H904Q probably damaging Het
Dnaaf11 A T 15: 66,252,362 (GRCm39) S435T probably benign Het
Dnajc2 T C 5: 21,979,974 (GRCm39) N177S possibly damaging Het
F5 G T 1: 164,021,181 (GRCm39) V1219L probably benign Het
Fam47c G T X: 77,781,454 (GRCm39) R12L probably damaging Het
Fat4 T C 3: 39,061,350 (GRCm39) I4311T possibly damaging Het
Fbf1 A G 11: 116,041,907 (GRCm39) V545A probably benign Het
Fhod3 G A 18: 25,153,777 (GRCm39) E420K probably damaging Het
Ikzf2 T C 1: 69,578,589 (GRCm39) K162E probably damaging Het
Insl6 C A 19: 29,298,953 (GRCm39) S153I possibly damaging Het
Kcnh8 A G 17: 53,141,708 (GRCm39) Y317C probably damaging Het
Lzts1 C A 8: 69,591,759 (GRCm39) V130L probably benign Het
Mill1 T C 7: 17,998,558 (GRCm39) I256T possibly damaging Het
Mycbpap A C 11: 94,400,145 (GRCm39) probably null Het
Or6c65 A G 10: 129,603,464 (GRCm39) Y33C probably damaging Het
Pdia6 T A 12: 17,320,542 (GRCm39) probably benign Het
Pik3c2b C T 1: 132,999,369 (GRCm39) Q406* probably null Het
Pkhd1 C A 1: 20,271,248 (GRCm39) G3102C probably damaging Het
Polr3b T A 10: 84,561,607 (GRCm39) I1122N probably damaging Het
Ryr2 T A 13: 11,653,371 (GRCm39) probably null Het
Samhd1 A G 2: 156,958,321 (GRCm39) I300T probably damaging Het
Skint5 T A 4: 113,662,361 (GRCm39) I609F unknown Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tenm2 A G 11: 35,915,075 (GRCm39) V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 (GRCm39) I433F probably benign Het
Thoc2 A T X: 40,916,223 (GRCm39) V865D probably benign Het
Trdn C A 10: 33,076,216 (GRCm39) P282Q probably damaging Het
Twsg1 C A 17: 66,255,699 (GRCm39) C25F probably damaging Het
Usp34 T A 11: 23,423,206 (GRCm39) I3155N probably damaging Het
Vmn2r106 T A 17: 20,498,651 (GRCm39) Q420L probably damaging Het
Vmn2r109 C T 17: 20,770,419 (GRCm39) R523K probably damaging Het
Other mutations in Slc27a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Slc27a3 APN 3 90,292,748 (GRCm39) nonsense probably null
IGL01080:Slc27a3 APN 3 90,292,767 (GRCm39) missense probably benign 0.17
IGL01358:Slc27a3 APN 3 90,293,859 (GRCm39) missense probably damaging 1.00
IGL02261:Slc27a3 APN 3 90,295,002 (GRCm39) missense probably benign
R0557:Slc27a3 UTSW 3 90,294,163 (GRCm39) missense probably damaging 1.00
R1922:Slc27a3 UTSW 3 90,293,624 (GRCm39) missense probably benign
R2032:Slc27a3 UTSW 3 90,294,704 (GRCm39) missense probably damaging 0.99
R3922:Slc27a3 UTSW 3 90,294,392 (GRCm39) missense possibly damaging 0.65
R4278:Slc27a3 UTSW 3 90,296,495 (GRCm39) unclassified probably benign
R4432:Slc27a3 UTSW 3 90,294,647 (GRCm39) missense probably damaging 0.99
R4433:Slc27a3 UTSW 3 90,294,647 (GRCm39) missense probably damaging 0.99
R4672:Slc27a3 UTSW 3 90,294,953 (GRCm39) missense possibly damaging 0.90
R5183:Slc27a3 UTSW 3 90,296,477 (GRCm39) critical splice donor site probably null
R5201:Slc27a3 UTSW 3 90,296,526 (GRCm39) missense probably benign 0.41
R5328:Slc27a3 UTSW 3 90,294,139 (GRCm39) missense probably damaging 1.00
R5405:Slc27a3 UTSW 3 90,294,382 (GRCm39) missense probably benign 0.05
R5477:Slc27a3 UTSW 3 90,294,146 (GRCm39) missense probably benign
R5743:Slc27a3 UTSW 3 90,294,379 (GRCm39) missense probably benign 0.38
R6344:Slc27a3 UTSW 3 90,294,961 (GRCm39) nonsense probably null
R6450:Slc27a3 UTSW 3 90,292,777 (GRCm39) missense probably damaging 0.97
R6988:Slc27a3 UTSW 3 90,293,597 (GRCm39) missense probably benign 0.01
R7204:Slc27a3 UTSW 3 90,297,033 (GRCm39) missense probably benign 0.07
R7736:Slc27a3 UTSW 3 90,296,740 (GRCm39) missense probably benign 0.22
R8045:Slc27a3 UTSW 3 90,294,449 (GRCm39) missense probably damaging 0.99
R8046:Slc27a3 UTSW 3 90,296,974 (GRCm39) missense probably damaging 1.00
R9072:Slc27a3 UTSW 3 90,295,768 (GRCm39) missense probably damaging 1.00
R9535:Slc27a3 UTSW 3 90,293,618 (GRCm39) missense probably damaging 1.00
R9781:Slc27a3 UTSW 3 90,296,591 (GRCm39) missense
R9795:Slc27a3 UTSW 3 90,296,875 (GRCm39) nonsense probably null
Posted On 2013-10-07