Incidental Mutation 'R1922:Slc27a3'
ID 213127
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 039940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1922 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90292546-90297245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90293624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 587 (V587E)
Ref Sequence ENSEMBL: ENSMUSP00000029541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029541
AA Change: V587E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: V587E

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: V552E
SMART Domains Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: V552E

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: 97.5%
  • 3x: 97.1%
  • 10x: 95.8%
  • 20x: 93.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,359,083 (GRCm39) N574K probably benign Het
Adcy9 A T 16: 4,129,521 (GRCm39) L455H probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Amy1 T A 3: 113,358,544 (GRCm39) I163F probably damaging Het
Aoc1l2 A C 6: 48,908,220 (GRCm39) I407L probably benign Het
Armc5 A G 7: 127,839,677 (GRCm39) S332G probably benign Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Chrna1 A G 2: 73,398,576 (GRCm39) S288P probably damaging Het
Cpe T A 8: 65,070,723 (GRCm39) D174V probably benign Het
Dclre1c T C 2: 3,441,819 (GRCm39) F235L possibly damaging Het
Ddx20 A T 3: 105,585,900 (GRCm39) V815D probably damaging Het
Dhx9 T C 1: 153,336,020 (GRCm39) probably null Het
Dmxl2 A C 9: 54,308,807 (GRCm39) H1981Q probably benign Het
Doc2a A C 7: 126,450,603 (GRCm39) D293A probably damaging Het
Eif2a C T 3: 58,455,951 (GRCm39) R317C probably damaging Het
Fancc A G 13: 63,478,381 (GRCm39) V318A possibly damaging Het
Fes A T 7: 80,033,734 (GRCm39) Y172* probably null Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Glul G A 1: 153,783,070 (GRCm39) M214I probably benign Het
Gm14496 A G 2: 181,642,797 (GRCm39) I823V probably benign Het
Gm6665 T C 18: 31,953,318 (GRCm39) N50S probably benign Het
Gm6729 T C 10: 86,376,782 (GRCm39) noncoding transcript Het
Gpr21 T A 2: 37,408,350 (GRCm39) C299S probably damaging Het
Hapln2 T A 3: 87,930,684 (GRCm39) N196Y probably benign Het
Hsd17b12 A G 2: 93,875,737 (GRCm39) V196A probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Kansl1 A T 11: 104,234,466 (GRCm39) L680Q probably damaging Het
Kcna3 T C 3: 106,945,251 (GRCm39) S505P possibly damaging Het
Klra1 A C 6: 130,349,828 (GRCm39) N203K probably benign Het
L3mbtl2 T A 15: 81,559,822 (GRCm39) I236N probably damaging Het
Mcm3ap C A 10: 76,343,195 (GRCm39) P1696T probably damaging Het
Mecom T C 3: 30,011,591 (GRCm39) D647G probably damaging Het
Mn1 A G 5: 111,566,612 (GRCm39) D194G probably damaging Het
Muc5ac A G 7: 141,347,426 (GRCm39) N407S probably benign Het
Mx2 C T 16: 97,361,551 (GRCm39) R584C probably benign Het
Myo1c A G 11: 75,559,055 (GRCm39) R597G probably benign Het
Nav3 T C 10: 109,541,467 (GRCm39) D1932G probably benign Het
Nwd2 T A 5: 63,951,585 (GRCm39) D205E probably benign Het
Obi1 T C 14: 104,716,622 (GRCm39) K584E probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Osmr T C 15: 6,873,848 (GRCm39) E183G possibly damaging Het
Peak1 A T 9: 56,113,971 (GRCm39) W627R probably damaging Het
Pkd1 C A 17: 24,814,131 (GRCm39) P4167Q probably damaging Het
Plekhg4 T A 8: 106,105,017 (GRCm39) L560Q probably damaging Het
Prg4 C T 1: 150,325,750 (GRCm39) W1217* probably null Het
Prkdc A G 16: 15,532,130 (GRCm39) I1465V probably benign Het
Pus1 A G 5: 110,925,505 (GRCm39) F105S probably damaging Het
Ranbp3l T C 15: 9,057,206 (GRCm39) S154P probably damaging Het
Rhbdl1 C T 17: 26,054,513 (GRCm39) G211S probably damaging Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Sash1 T A 10: 8,603,672 (GRCm39) N1127Y possibly damaging Het
Setbp1 C T 18: 78,901,577 (GRCm39) E697K possibly damaging Het
Slc38a2 A G 15: 96,589,043 (GRCm39) F454L possibly damaging Het
Sprn A T 7: 139,733,458 (GRCm39) probably benign Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tbc1d1 A G 5: 64,468,564 (GRCm39) E732G probably damaging Het
Tnfaip3 A G 10: 18,879,355 (GRCm39) F671S possibly damaging Het
Tor1aip2 C A 1: 155,940,540 (GRCm39) P282Q probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ttll2 A T 17: 7,619,789 (GRCm39) F46Y probably damaging Het
Ttn A G 2: 76,564,494 (GRCm39) S28548P probably damaging Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Usp32 A T 11: 84,897,830 (GRCm39) C1170* probably null Het
Usp54 G T 14: 20,610,972 (GRCm39) H1281Q probably benign Het
Vgll4 C T 6: 114,898,296 (GRCm39) G22S probably benign Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Zdhhc5 A T 2: 84,523,771 (GRCm39) F225Y probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly 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
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
Predicted Primers PCR Primer
(F):5'- AAGGAGCATGCGCCAATCAG -3'
(R):5'- TTCCTTCAGGAGGTGAACATCTATG -3'

Sequencing Primer
(F):5'- AATCAGGGGAGCGTCCTTC -3'
(R):5'- AACATCTATGGAGTCACGGTGCC -3'
Posted On 2014-07-14