Incidental Mutation 'IGL01080:Slc27a3'
ID50709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc27a3
Ensembl Gene ENSMUSG00000027932
Gene Namesolute carrier family 27 (fatty acid transporter), member 3
SynonymsAcsvl3, fatty acid transport protein 3, FATP3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL01080
Quality Score
Status
Chromosome3
Chromosomal Location90385239-90389938 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 90385460 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 634 (V634E)
Ref Sequence ENSEMBL: ENSMUSP00000029541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541]
Predicted Effect probably benign
Transcript: ENSMUST00000029541
AA Change: V634E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: V634E

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 noncoding transcript
Transcript: ENSMUST00000127064
Predicted Effect unknown
Transcript: ENSMUST00000132041
AA Change: V599E
SMART Domains Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: V599E

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,934,258 R663W probably damaging Het
Cacng5 A T 11: 107,877,928 F179L probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Cd96 T C 16: 46,049,693 E471G possibly damaging Het
Cpt1c T C 7: 44,960,909 D621G probably damaging Het
Csmd3 T C 15: 47,881,403 I1503V probably benign Het
Dmgdh T C 13: 93,703,778 probably benign Het
Flg A T 3: 93,279,599 K119N probably benign Het
Gale T C 4: 135,966,078 Y104H probably damaging Het
Gm8005 T C 14: 42,437,014 D119G unknown Het
Gstk1 A T 6: 42,246,626 D50V possibly damaging Het
Kmt2a T C 9: 44,809,092 D3866G unknown Het
Mastl A G 2: 23,146,148 S119P probably damaging Het
Olfr169 A T 16: 19,566,208 V225E probably damaging Het
Phf11c G A 14: 59,393,199 T19I probably benign Het
Ppp1r16b A G 2: 158,757,172 T355A probably damaging Het
Prmt7 T G 8: 106,237,214 probably benign Het
Rad50 T C 11: 53,706,068 T44A probably damaging Het
Rangap1 C T 15: 81,705,752 probably benign Het
Tbxas1 T A 6: 39,021,181 L228I probably damaging Het
Tnfaip3 T C 10: 19,011,655 K41E probably benign Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Tyrobp T C 7: 30,417,416 probably null Het
Wfdc16 A T 2: 164,638,486 W30R probably damaging Het
Zyg11b A T 4: 108,237,416 L657Q probably damaging Het
Other mutations in Slc27a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Slc27a3 APN 3 90385441 nonsense probably null
IGL01313:Slc27a3 APN 3 90386554 missense probably damaging 1.00
IGL01358:Slc27a3 APN 3 90386552 missense probably damaging 1.00
IGL02261:Slc27a3 APN 3 90387695 missense probably benign
R0557:Slc27a3 UTSW 3 90386856 missense probably damaging 1.00
R1922:Slc27a3 UTSW 3 90386317 missense probably benign
R2032:Slc27a3 UTSW 3 90387397 missense probably damaging 0.99
R3922:Slc27a3 UTSW 3 90387085 missense possibly damaging 0.65
R4278:Slc27a3 UTSW 3 90389188 unclassified probably benign
R4432:Slc27a3 UTSW 3 90387340 missense probably damaging 0.99
R4433:Slc27a3 UTSW 3 90387340 missense probably damaging 0.99
R4672:Slc27a3 UTSW 3 90387646 missense possibly damaging 0.90
R5183:Slc27a3 UTSW 3 90389170 critical splice donor site probably null
R5201:Slc27a3 UTSW 3 90389219 missense probably benign 0.41
R5328:Slc27a3 UTSW 3 90386832 missense probably damaging 1.00
R5405:Slc27a3 UTSW 3 90387075 missense probably benign 0.05
R5477:Slc27a3 UTSW 3 90386839 missense probably benign
R5743:Slc27a3 UTSW 3 90387072 missense probably benign 0.38
R6344:Slc27a3 UTSW 3 90387654 nonsense probably null
R6450:Slc27a3 UTSW 3 90385470 missense probably damaging 0.97
R6988:Slc27a3 UTSW 3 90386290 missense probably benign 0.01
R7204:Slc27a3 UTSW 3 90389726 missense probably benign 0.07
R7736:Slc27a3 UTSW 3 90389433 missense probably benign 0.22
R8045:Slc27a3 UTSW 3 90387142 missense probably damaging 0.99
R8046:Slc27a3 UTSW 3 90389667 missense probably damaging 1.00
Posted On2013-06-21