Incidental Mutation 'R7204:Slc27a3'
ID 560427
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 045282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R7204 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90292546-90297245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90297033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
Ref Sequence ENSEMBL: ENSMUSP00000029541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541] [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029541
AA Change: V22A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: V22A

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 probably benign
Transcript: ENSMUST00000132041
SMART Domains Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932

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 probably benign
Transcript: ENSMUST00000196530
SMART Domains Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
Pfam:DUF2356 268 497 5.7e-114 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 1018 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,730,636 (GRCm39) S227P probably damaging Het
Acot6 A G 12: 84,153,301 (GRCm39) H181R probably benign Het
Adam15 A T 3: 89,254,244 (GRCm39) H184Q probably benign Het
Agl A G 3: 116,587,469 (GRCm39) F29L probably benign Het
Ak7 A G 12: 105,708,502 (GRCm39) Y319C probably benign Het
Ano8 C A 8: 71,931,669 (GRCm39) V813L probably benign Het
Apbb2 T G 5: 66,608,946 (GRCm39) K234Q probably damaging Het
Arfgef3 A T 10: 18,522,210 (GRCm39) D605E probably damaging Het
Bfsp2 C A 9: 103,309,865 (GRCm39) R340L probably damaging Het
Birc6 C A 17: 74,947,103 (GRCm39) P2956T probably damaging Het
C1rb T C 6: 124,554,386 (GRCm39) I389T probably benign Het
Ccdc146 A G 5: 21,513,624 (GRCm39) F498S probably benign Het
Cdc14b A C 13: 64,358,012 (GRCm39) V361G possibly damaging Het
Cdc25b A T 2: 131,033,552 (GRCm39) I164F probably damaging Het
Col18a1 A G 10: 76,921,110 (GRCm39) S297P unknown Het
Col3a1 A T 1: 45,361,578 (GRCm39) I117F unknown Het
Cox4i2 AG A 2: 152,602,618 (GRCm39) probably null Het
Crybg3 C A 16: 59,379,253 (GRCm39) G667V probably benign Het
Ctc1 A G 11: 68,920,567 (GRCm39) D623G probably damaging Het
Dennd1a A T 2: 37,929,215 (GRCm39) H152Q probably damaging Het
Dgke G A 11: 88,932,306 (GRCm39) P495S probably damaging Het
Dll3 A T 7: 27,998,330 (GRCm39) C212S possibly damaging Het
Dll4 A T 2: 119,159,054 (GRCm39) S235C probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 A T 14: 26,503,442 (GRCm39) T1599S probably damaging Het
Elavl1 G A 8: 4,361,712 (GRCm39) T20M probably damaging Het
Epha3 T C 16: 63,472,695 (GRCm39) T397A probably benign Het
Fanca A T 8: 124,013,216 (GRCm39) I859N probably damaging Het
Fzd1 A T 5: 4,805,980 (GRCm39) V534D probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gm9195 G A 14: 72,711,626 (GRCm39) P329S probably damaging Het
Gpt A G 15: 76,583,199 (GRCm39) R379G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Hemgn T C 4: 46,397,054 (GRCm39) K61E possibly damaging Het
Ikzf4 A T 10: 128,479,759 (GRCm39) S56T possibly damaging Het
Jak1 T C 4: 101,032,332 (GRCm39) T425A probably benign Het
Jsrp1 T C 10: 80,646,319 (GRCm39) T80A probably benign Het
Klra9 T A 6: 130,165,643 (GRCm39) D124V possibly damaging Het
Lama5 A T 2: 179,843,970 (GRCm39) V397D probably damaging Het
Lrp2 A G 2: 69,302,877 (GRCm39) S2951P probably benign Het
Map7d1 A G 4: 126,149,808 (GRCm39) probably null Het
Mcm6 A T 1: 128,265,864 (GRCm39) C636S probably damaging Het
Mia T C 7: 26,880,358 (GRCm39) E39G possibly damaging Het
Mpeg1 T A 19: 12,440,258 (GRCm39) I572N probably damaging Het
Muc21 AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC AGCTGGATACAGTGGTGGTC 17: 35,932,105 (GRCm39) probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mup5 A G 4: 61,751,992 (GRCm39) Y86H probably damaging Het
Nckap5 A T 1: 125,954,104 (GRCm39) V816D probably benign Het
Nfib T C 4: 82,215,052 (GRCm39) probably null Het
Nlrc5 T A 8: 95,218,153 (GRCm39) V1056D possibly damaging Het
Nynrin G C 14: 56,110,190 (GRCm39) E1766Q probably damaging Het
Or7d9 A T 9: 20,197,100 (GRCm39) Y43F probably benign Het
Oxct1 T A 15: 4,123,524 (GRCm39) L328Q probably damaging Het
Pax5 T A 4: 44,679,485 (GRCm39) I187F possibly damaging Het
Pcdhb4 A T 18: 37,442,292 (GRCm39) D534V probably damaging Het
Pebp4 C T 14: 70,085,046 (GRCm39) P35S probably benign Het
Pkhd1l1 T A 15: 44,386,949 (GRCm39) V1274E possibly damaging Het
Plcz1 A T 6: 139,956,150 (GRCm39) V373D probably benign Het
Plxnb1 C T 9: 108,929,243 (GRCm39) T33I probably damaging Het
Prag1 T C 8: 36,613,915 (GRCm39) C1156R probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbp4 G A 19: 38,112,551 (GRCm39) T138I possibly damaging Het
Semp2l2b A G 10: 21,943,785 (GRCm39) L65P probably damaging Het
Slc12a1 A T 2: 125,042,542 (GRCm39) N733Y possibly damaging Het
Tcaf1 T C 6: 42,651,973 (GRCm39) probably null Het
Tnc T C 4: 63,889,392 (GRCm39) probably null Het
Tspan31 A T 10: 126,903,987 (GRCm39) *211R probably null Het
Ttc17 A T 2: 94,192,773 (GRCm39) V86D possibly damaging Het
Ubr1 T A 2: 120,734,558 (GRCm39) N1114I possibly damaging Het
Ulk2 C T 11: 61,674,457 (GRCm39) G850R probably benign Het
Vmn1r13 T A 6: 57,187,141 (GRCm39) I100N probably benign Het
Zan T C 5: 137,426,240 (GRCm39) D2512G unknown Het
Zc3h14 A T 12: 98,737,615 (GRCm39) N34I probably damaging Het
Zcwpw1 T G 5: 137,810,346 (GRCm39) L374R probably damaging Het
Zfp747l1 A T 7: 126,983,518 (GRCm39) I528K 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
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
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'- ATCCAAAGGAAATCCGGGCC -3'
(R):5'- AAGAAAGGTTGTCCGAGCCG -3'

Sequencing Primer
(F):5'- TCTAGCAGCCGCATCTCCAG -3'
(R):5'- GAGCCGGACCAAAGCTG -3'
Posted On 2019-06-26