Incidental Mutation 'R6450:Slc27a3'
ID 519331
Institutional Source Beutler Lab
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
MMRRC Submission 044586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6450 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90292546-90297245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90292777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 631 (D631Y)
Ref Sequence ENSEMBL: ENSMUSP00000029541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029541
AA Change: D631Y

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: D631Y

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: D596Y
SMART Domains Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: D596Y

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
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.1%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C G 7: 119,815,449 (GRCm39) N232K probably benign Het
Acaca T A 11: 84,171,294 (GRCm39) V5E probably damaging Het
Adam18 A T 8: 25,119,691 (GRCm39) D529E probably benign Het
Adgrb3 T C 1: 25,459,683 (GRCm39) T798A probably benign Het
Alyref T C 11: 120,486,872 (GRCm39) T130A probably benign Het
Arhgap24 A G 5: 103,044,990 (GRCm39) S591G probably benign Het
Carmil1 C T 13: 24,220,547 (GRCm39) G655E probably damaging Het
Cdc42bpg T A 19: 6,364,518 (GRCm39) probably null Het
Clec12a T A 6: 129,330,366 (GRCm39) L48H probably damaging Het
Coq2 C A 5: 100,809,770 (GRCm39) probably benign Het
Crb2 C A 2: 37,683,838 (GRCm39) F1113L possibly damaging Het
Ctla4 A T 1: 60,951,872 (GRCm39) M134L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dync2i1 A T 12: 116,210,347 (GRCm39) Y314* probably null Het
Efhb A G 17: 53,759,632 (GRCm39) V290A possibly damaging Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Eva1a A T 6: 82,069,086 (GRCm39) I138F probably damaging Het
Fat2 T A 11: 55,180,136 (GRCm39) I1402F probably damaging Het
Fat3 A T 9: 15,910,466 (GRCm39) H1845Q possibly damaging Het
Gimap8 T A 6: 48,633,385 (GRCm39) F401L probably benign Het
Gpr162 C T 6: 124,838,152 (GRCm39) R166Q possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hdac4 G A 1: 91,912,433 (GRCm39) P348S possibly damaging Het
Hmcn2 T C 2: 31,251,812 (GRCm39) V849A probably benign Het
Inpp5b T A 4: 124,686,045 (GRCm39) N696K probably damaging Het
Kdm5d G T Y: 927,056 (GRCm39) R598L probably damaging Homo
Kidins220 T C 12: 25,107,190 (GRCm39) S1548P probably benign Het
Kif2b C A 11: 91,467,192 (GRCm39) V364L probably damaging Het
Kitl A G 10: 99,923,256 (GRCm39) M1V probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Map6 T C 7: 98,917,245 (GRCm39) I6T probably damaging Het
Mastl T C 2: 23,010,941 (GRCm39) T768A probably damaging Het
Mettl16 T C 11: 74,696,164 (GRCm39) V335A probably benign Het
Mpl T C 4: 118,305,897 (GRCm39) probably null Het
Myo5c C T 9: 75,193,860 (GRCm39) T1205I probably benign Het
Nav2 C A 7: 49,244,114 (GRCm39) L2114I probably damaging Het
Neb T A 2: 52,084,481 (GRCm39) K5330* probably null Het
Nfe2l1 C T 11: 96,718,161 (GRCm39) E125K possibly damaging Het
Onecut3 A G 10: 80,331,922 (GRCm39) K361E probably damaging Het
Or4f47 T A 2: 111,972,725 (GRCm39) L145* probably null Het
Osbpl6 A G 2: 76,395,174 (GRCm39) N370S possibly damaging Het
Otud4 T A 8: 80,399,626 (GRCm39) M780K probably benign Het
P2rx4 A G 5: 122,865,304 (GRCm39) T310A possibly damaging Het
Pcdha11 G T 18: 37,146,215 (GRCm39) D769Y probably damaging Het
Pcgf6 C T 19: 47,037,527 (GRCm39) R124H probably benign Het
Pibf1 T A 14: 99,374,646 (GRCm39) Y362N probably damaging Het
Ppm1g T C 5: 31,360,468 (GRCm39) E422G probably benign Het
Prmt8 T C 6: 127,709,606 (GRCm39) I85V possibly damaging Het
Prss27 A T 17: 24,263,988 (GRCm39) K225* probably null Het
Rai1 A T 11: 60,077,429 (GRCm39) T498S probably benign Het
Sbf2 C A 7: 110,062,070 (GRCm39) G23V probably damaging Het
Sdha C T 13: 74,482,412 (GRCm39) probably null Het
Sgo2a C T 1: 58,042,092 (GRCm39) Q140* probably null Het
Sh3rf3 A G 10: 58,819,966 (GRCm39) D259G probably damaging Het
Slc7a10 T C 7: 34,886,015 (GRCm39) S37P possibly damaging Het
Slco6d1 A G 1: 98,349,192 (GRCm39) T88A probably benign Het
Smad4 A T 18: 73,810,817 (GRCm39) S56T possibly damaging Het
Smarcd1 A G 15: 99,605,766 (GRCm39) I346V possibly damaging Het
Spast C T 17: 74,675,835 (GRCm39) P260S probably benign Het
Spata31f1e C A 4: 42,792,489 (GRCm39) G548W probably damaging Het
Sprr2i A T 3: 92,316,017 (GRCm39) probably benign Het
Sptbn5 A G 2: 119,877,616 (GRCm39) probably benign Het
Taar9 A T 10: 23,985,138 (GRCm39) Y99N probably damaging Het
Trappc10 A T 10: 78,045,284 (GRCm39) M468K possibly damaging Het
Trim66 T C 7: 109,059,945 (GRCm39) R814G probably benign Het
Tspan31 A G 10: 126,904,227 (GRCm39) C157R probably damaging Het
Vmn2r90 A G 17: 17,953,498 (GRCm39) D554G possibly damaging Het
Vmn2r91 A T 17: 18,305,527 (GRCm39) D70V probably damaging Het
Wdfy4 C T 14: 32,830,649 (GRCm39) G928R probably damaging Het
Zfp346 G T 13: 55,261,517 (GRCm39) K102N probably damaging Het
Zmym4 G A 4: 126,789,099 (GRCm39) P1002S 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
IGL01313:Slc27a3 APN 3 90,293,861 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAAAACCCTCCCTGGTGCAG -3'
(R):5'- ATCGCAGAGACAGCAGCTG -3'

Sequencing Primer
(F):5'- TGGTGCAGCCATGGTGG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2018-05-24