Incidental Mutation 'R4058:Slc1a5'
ID314339
Institutional Source Beutler Lab
Gene Symbol Slc1a5
Ensembl Gene ENSMUSG00000001918
Gene Namesolute carrier family 1 (neutral amino acid transporter), member 5
SynonymsASCT2
MMRRC Submission 040969-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.231) question?
Stock #R4058 (G1)
Quality Score179
Status Validated
Chromosome7
Chromosomal Location16781340-16798274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 16795853 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 399 (V399A)
Ref Sequence ENSEMBL: ENSMUSP00000104136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108496]
Predicted Effect probably damaging
Transcript: ENSMUST00000108496
AA Change: V399A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918
AA Change: V399A

DomainStartEndE-ValueType
Pfam:SDF 55 499 1.5e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135817
SMART Domains Protein: ENSMUSP00000116654
Gene: ENSMUSG00000001918

DomainStartEndE-ValueType
Pfam:SDF 3 139 7e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147814
Meta Mutation Damage Score 0.5447 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 88% (38/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced B cells, CD4+ memory T cells in older mice, Th1 and Th17 T cells, susceptibility to EAE and T cell uptake of glutamine and leucine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,766,458 V301A probably benign Het
Adam15 A G 3: 89,347,055 V145A possibly damaging Het
Anxa4 C T 6: 86,757,818 probably null Het
Aqp9 C A 9: 71,130,444 V184L probably benign Het
Atp13a3 C A 16: 30,354,246 C271F possibly damaging Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
C130060K24Rik T A 6: 65,381,541 I83N probably damaging Het
Cldn34c4 C A X: 127,721,437 V137F probably benign Het
Cngb1 T C 8: 95,267,654 E163G probably benign Het
Dync1i1 A G 6: 5,769,764 D113G probably damaging Het
Etl4 T A 2: 20,806,019 V971D possibly damaging Het
Gys1 A G 7: 45,448,386 probably benign Het
H13 C G 2: 152,691,874 P227R probably damaging Het
Ift22 C A 5: 136,911,863 P84Q unknown Het
Igfn1 A G 1: 135,969,756 V1024A probably benign Het
Kdm8 T A 7: 125,456,494 Y65N probably damaging Het
Lbp T A 2: 158,324,630 V368E probably damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Megf6 T C 4: 154,242,532 probably benign Het
Mettl13 G T 1: 162,546,186 H165Q probably damaging Het
Mitd1 C T 1: 37,881,026 S167N probably benign Het
Mon2 A G 10: 123,002,819 V1593A probably benign Het
Nkx3-2 T A 5: 41,762,063 E194V possibly damaging Het
Nup210 A T 6: 91,060,620 V757D probably benign Het
Olfr1031 T A 2: 85,992,232 S138R possibly damaging Het
Olfr1328 T C 4: 118,934,683 D53G probably damaging Het
Opcml A G 9: 28,901,588 Y192C probably damaging Het
Pcdha2 A G 18: 36,939,882 S189G probably benign Het
Pkd2l2 T C 18: 34,428,192 F418L probably benign Het
Plekhg1 A G 10: 3,957,087 D668G probably damaging Het
Prep G A 10: 45,158,371 V660M probably benign Het
Rgs8 A G 1: 153,690,996 T98A probably null Het
Rhbdd1 A G 1: 82,370,381 N235D possibly damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Sgo2b A T 8: 63,926,947 D950E probably damaging Het
Spag16 A T 1: 69,853,328 Q89H probably damaging Het
Spta1 T C 1: 174,241,137 W2168R probably damaging Het
Taok1 T A 11: 77,549,438 K581M probably benign Het
Tns3 T C 11: 8,492,275 D696G probably damaging Het
Tspan8 C T 10: 115,835,282 R115* probably null Het
Txnrd1 A G 10: 82,885,280 E510G probably benign Het
Usp45 T C 4: 21,810,746 I314T probably damaging Het
Vmn2r15 T A 5: 109,293,446 H182L probably damaging Het
Vmn2r76 A C 7: 86,230,300 M264R probably benign Het
Other mutations in Slc1a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Slc1a5 APN 7 16786879 nonsense probably null
IGL01295:Slc1a5 APN 7 16795862 missense probably damaging 1.00
IGL02388:Slc1a5 APN 7 16785719 critical splice donor site probably null
IGL02863:Slc1a5 APN 7 16793721 missense probably benign
IGL03149:Slc1a5 APN 7 16789820 missense probably damaging 0.96
R0001:Slc1a5 UTSW 7 16793637 splice site probably null
R0368:Slc1a5 UTSW 7 16782178 missense probably damaging 1.00
R0690:Slc1a5 UTSW 7 16786904 missense probably benign
R1430:Slc1a5 UTSW 7 16782403 missense probably benign 0.00
R1769:Slc1a5 UTSW 7 16797539 missense probably damaging 1.00
R4944:Slc1a5 UTSW 7 16797743 utr 3 prime probably benign
R5220:Slc1a5 UTSW 7 16793834 missense probably damaging 1.00
R5976:Slc1a5 UTSW 7 16795882 missense probably damaging 1.00
R5986:Slc1a5 UTSW 7 16782226 missense probably benign 0.26
R7171:Slc1a5 UTSW 7 16797538 missense probably damaging 1.00
R7270:Slc1a5 UTSW 7 16785698 missense probably damaging 1.00
R7345:Slc1a5 UTSW 7 16796160 critical splice donor site probably null
R7630:Slc1a5 UTSW 7 16795807 missense probably damaging 1.00
R7920:Slc1a5 UTSW 7 16793870 missense probably damaging 1.00
R7944:Slc1a5 UTSW 7 16789882 missense possibly damaging 0.50
R7945:Slc1a5 UTSW 7 16789882 missense possibly damaging 0.50
R8221:Slc1a5 UTSW 7 16781977 missense probably benign 0.05
Z1088:Slc1a5 UTSW 7 16797669 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCCTTTGAGGTCCAGGAG -3'
(R):5'- ACTGCTTCCAGGATGATGGC -3'

Sequencing Primer
(F):5'- TGAGGTCCAGGAGGGCTG -3'
(R):5'- ACCGACACTGGATGCTGTG -3'
Posted On2015-04-30