Incidental Mutation 'R4944:Slc1a5'
ID383345
Institutional Source Beutler Lab
Gene Symbol Slc1a5
Ensembl Gene ENSMUSG00000001918
Gene Namesolute carrier family 1 (neutral amino acid transporter), member 5
SynonymsASCT2
MMRRC Submission 042541-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #R4944 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location16781340-16798274 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 16797743 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108496]
Predicted Effect probably benign
Transcript: ENSMUST00000108496
SMART Domains Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 G A 5: 8,934,327 probably null Het
Angptl7 C G 4: 148,500,077 Q71H probably damaging Het
Arhgap30 A T 1: 171,402,254 N176Y probably damaging Het
Armc9 T A 1: 86,274,534 S805T probably damaging Het
Atxn1 T G 13: 45,566,931 H496P probably damaging Het
Cabin1 C T 10: 75,721,363 G1147D probably damaging Het
Cabin1 A G 10: 75,739,421 S597P probably damaging Het
Catsperd T C 17: 56,662,744 S613P probably damaging Het
Cdh2 A G 18: 16,650,409 Y88H probably damaging Het
Cntn1 C A 15: 92,228,668 P47Q probably damaging Het
Col11a2 T C 17: 34,042,190 L38P possibly damaging Het
Col5a2 T G 1: 45,376,695 I1431L possibly damaging Het
Csmd1 C T 8: 15,998,772 G2310D probably damaging Het
Dhcr7 T A 7: 143,837,791 I39N probably damaging Het
Diexf A T 1: 193,114,954 M530K probably damaging Het
Dnajc13 C T 9: 104,167,387 probably benign Het
Folr2 T C 7: 101,840,290 probably null Het
Galnt11 T C 5: 25,265,338 I595T probably damaging Het
Gm884 T C 11: 103,613,460 T2561A possibly damaging Het
Gp5 G A 16: 30,309,508 A116V possibly damaging Het
Gpn3 T C 5: 122,382,240 probably benign Het
Gprin3 T C 6: 59,354,659 N221S probably benign Het
Hfm1 T C 5: 106,874,213 E989G possibly damaging Het
Ints1 T C 5: 139,758,092 probably null Het
Josd2 T C 7: 44,471,168 S110P probably damaging Het
Kat14 C A 2: 144,375,953 T123K probably damaging Het
Lamtor1 C T 7: 101,909,764 T48I probably damaging Het
Lrrc24 A G 15: 76,718,346 L113P probably damaging Het
Mog T C 17: 37,020,541 E89G probably damaging Het
Mon2 A G 10: 123,038,459 probably null Het
Mtx1 T C 3: 89,213,898 Y143C probably benign Het
Nacad T C 11: 6,598,507 E1409G possibly damaging Het
Ndst3 T C 3: 123,607,027 H410R probably damaging Het
Nkx6-2 T C 7: 139,581,570 E233G possibly damaging Het
Oas1h A G 5: 120,862,783 E152G probably damaging Het
Olfr936 A G 9: 39,046,862 S186P probably damaging Het
Ovgp1 T C 3: 105,979,953 F222L possibly damaging Het
Pkhd1 T C 1: 20,288,205 S2716G probably null Het
Pla2g4e T C 2: 120,171,237 T644A probably benign Het
Plxnd1 A G 6: 115,955,765 I1918T probably damaging Het
Prrxl1 G T 14: 32,608,249 Q136H probably damaging Het
Psmg1 A T 16: 95,989,612 probably benign Het
Ptprd G A 4: 76,128,899 R364C probably damaging Het
Rgs22 T C 15: 36,025,942 I945V possibly damaging Het
Rgs7bp T C 13: 104,951,564 N234S probably benign Het
Rrp7a T C 15: 83,119,809 probably benign Het
Scg2 T A 1: 79,436,476 R177* probably null Het
Sema4c C A 1: 36,550,311 C578F probably damaging Het
Slc5a3 A G 16: 92,078,683 T543A possibly damaging Het
Slx4ip T A 2: 137,046,767 F123I probably benign Het
Smtn C T 11: 3,522,916 R737H probably damaging Het
Stox2 A G 8: 47,413,265 I14T possibly damaging Het
Stradb T C 1: 58,980,440 F43L probably benign Het
Szt2 T C 4: 118,388,669 D1029G probably benign Het
Taar6 T C 10: 23,984,715 Y311C probably damaging Het
Tcea3 A T 4: 136,268,093 N249I probably damaging Het
Tecta A G 9: 42,330,277 M2134T probably benign Het
Tg G A 15: 66,764,337 G591D probably damaging Het
Tm4sf20 T A 1: 82,768,363 I19F probably benign Het
Top2a T C 11: 98,997,850 K1262E probably benign Het
Ube2r2 A G 4: 41,190,742 probably benign Het
Usp29 T C 7: 6,961,928 S257P possibly damaging Het
Usp40 T C 1: 87,952,355 N1038S probably benign Het
Vmn1r121 C T 7: 21,097,613 E301K probably benign Het
Vmn2r49 T A 7: 9,989,032 H105L probably benign Het
Zgrf1 C T 3: 127,561,868 Q248* probably null 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
R4058:Slc1a5 UTSW 7 16795853 missense probably damaging 0.98
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'- AACCAAGATGCCGAGCTCAG -3'
(R):5'- TGGGTGACTGAGAATGTCATTCC -3'

Sequencing Primer
(F):5'- GAGCTCAGAGCCCGAATTGATC -3'
(R):5'- TCATTCCTTGAATGGGGGACAGAAC -3'
Posted On2016-04-27