Incidental Mutation 'R8966:Slc1a3'
ID 682761
Institutional Source Beutler Lab
Gene Symbol Slc1a3
Ensembl Gene ENSMUSG00000005360
Gene Name solute carrier family 1 (glial high affinity glutamate transporter), member 3
Synonyms Gmt1, MGluT1, B430115D02Rik, Eaat1, GLAST
MMRRC Submission 068800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 8663608-8740248 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 8680332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005493]
AlphaFold P56564
Predicted Effect probably null
Transcript: ENSMUST00000005493
SMART Domains Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360

DomainStartEndE-ValueType
Pfam:SDF 50 497 8.5e-135 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A T 1: 16,151,062 (GRCm39) M40K possibly damaging Het
Aak1 A C 6: 86,964,234 (GRCm39) N945T unknown Het
Abca13 C G 11: 9,578,588 (GRCm39) D4863E probably damaging Het
Abca8a C T 11: 109,962,245 (GRCm39) probably null Het
Alppl2 T A 1: 87,015,210 (GRCm39) N413I probably damaging Het
Asb13 T A 13: 3,692,093 (GRCm39) H24Q probably damaging Het
Atg9b A G 5: 24,596,200 (GRCm39) probably null Het
Atp2b4 T A 1: 133,666,317 (GRCm39) H245L probably benign Het
B3galt2 A C 1: 143,521,883 (GRCm39) R6S probably damaging Het
B4galnt2 T C 11: 95,781,811 (GRCm39) H118R probably damaging Het
Ccdc121rt2 T A 5: 112,598,103 (GRCm39) W217R probably damaging Het
Clca3b A G 3: 144,544,872 (GRCm39) S372P probably benign Het
Cnn1 T C 9: 22,010,716 (GRCm39) probably null Het
Cpne6 C T 14: 55,750,060 (GRCm39) R64C probably damaging Het
Csmd1 T A 8: 16,250,059 (GRCm39) H973L probably damaging Het
Dennd5b A T 6: 148,901,474 (GRCm39) H1137Q probably damaging Het
Dnah3 G T 7: 119,549,881 (GRCm39) Y500* probably null Het
Dnajc19 A G 3: 34,132,893 (GRCm39) V104A unknown Het
Eea1 G A 10: 95,832,901 (GRCm39) E249K probably damaging Het
Eif1ad19 G T 12: 87,740,273 (GRCm39) Y95* probably null Het
Fancc T C 13: 63,495,285 (GRCm39) Q213R probably benign Het
Gabrr1 A G 4: 33,152,411 (GRCm39) probably null Het
Hgd T A 16: 37,431,532 (GRCm39) V113E probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Lrrcc1 T C 3: 14,602,359 (GRCm39) C151R probably damaging Het
Marveld3 T C 8: 110,675,019 (GRCm39) S266G possibly damaging Het
Mdn1 C T 4: 32,672,837 (GRCm39) Q486* probably null Het
Mstn G T 1: 53,105,641 (GRCm39) V328L probably benign Het
Ndc80 C A 17: 71,815,573 (GRCm39) G404V probably benign Het
Nelfb T C 2: 25,090,751 (GRCm39) R557G probably damaging Het
Nol10 T G 12: 17,419,507 (GRCm39) V266G possibly damaging Het
Optc C A 1: 133,828,872 (GRCm39) A245S probably damaging Het
Or51a43 A G 7: 103,718,139 (GRCm39) L33P probably damaging Het
Or52ae7 A T 7: 103,119,524 (GRCm39) I93F probably benign Het
Or5b111 A T 19: 13,291,196 (GRCm39) F151Y probably damaging Het
Or6c75 A T 10: 129,336,951 (GRCm39) Y58F probably damaging Het
Or8i2 T A 2: 86,852,879 (GRCm39) E3V possibly damaging Het
Pcdhb11 A G 18: 37,556,037 (GRCm39) T456A possibly damaging Het
Pkd1 A G 17: 24,794,751 (GRCm39) E2146G possibly damaging Het
Pkdrej A T 15: 85,702,012 (GRCm39) I1308N probably damaging Het
Plekha3 A T 2: 76,523,006 (GRCm39) I225F probably benign Het
Ppp1r3c A T 19: 36,711,736 (GRCm39) D11E probably benign Het
Pprc1 A G 19: 46,054,118 (GRCm39) D1155G unknown Het
Prcc T C 3: 87,792,232 (GRCm39) K140E probably damaging Het
Pth1r A T 9: 110,554,229 (GRCm39) V334D possibly damaging Het
Rab3d G A 9: 21,826,060 (GRCm39) T118M probably damaging Het
Ric8a A G 7: 140,438,379 (GRCm39) E206G probably benign Het
Rps17 C A 7: 80,994,660 (GRCm39) V34L probably benign Het
Serpinb13 T C 1: 106,928,165 (GRCm39) S262P probably damaging Het
Serpinb6b T A 13: 33,162,035 (GRCm39) L278Q probably damaging Het
Slc27a5 C A 7: 12,725,090 (GRCm39) R452S probably benign Het
Slc45a2 T A 15: 11,001,122 (GRCm39) W74R probably damaging Het
Slc4a2 A G 5: 24,635,092 (GRCm39) T175A probably benign Het
Sos1 C A 17: 80,705,879 (GRCm39) G1231C possibly damaging Het
Spata32 T C 11: 103,100,143 (GRCm39) T121A probably damaging Het
Srd5a3 T A 5: 76,301,437 (GRCm39) F222Y probably benign Het
Stag3 T C 5: 138,289,666 (GRCm39) Y279H probably damaging Het
Stk31 T C 6: 49,423,134 (GRCm39) I795T possibly damaging Het
Syne2 T C 12: 76,146,197 (GRCm39) I1665T probably damaging Het
Tas2r118 A G 6: 23,970,020 (GRCm39) Y14H probably damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tnik T G 3: 28,587,044 (GRCm39) M105R unknown Het
Trrap A G 5: 144,740,162 (GRCm39) T1195A probably damaging Het
Usf1 T A 1: 171,245,101 (GRCm39) probably null Het
Usp53 G A 3: 122,754,981 (GRCm39) T158I probably damaging Het
Uty T C Y: 1,099,748 (GRCm39) E1149G possibly damaging Het
Vmn2r23 G A 6: 123,719,079 (GRCm39) V811M possibly damaging Het
Zfp663 T A 2: 165,194,958 (GRCm39) K420N probably damaging Het
Zfp703 T C 8: 27,468,302 (GRCm39) S91P possibly damaging Het
Zpld2 T C 4: 133,929,712 (GRCm39) T198A probably damaging Het
Zscan4-ps1 A C 7: 10,800,250 (GRCm39) I213S probably benign Het
Other mutations in Slc1a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Slc1a3 APN 15 8,680,477 (GRCm39) missense probably damaging 1.00
IGL01133:Slc1a3 APN 15 8,675,171 (GRCm39) missense probably damaging 1.00
IGL01696:Slc1a3 APN 15 8,671,822 (GRCm39) missense probably benign 0.19
IGL03108:Slc1a3 APN 15 8,668,562 (GRCm39) missense probably damaging 1.00
R0128:Slc1a3 UTSW 15 8,665,693 (GRCm39) missense probably benign 0.07
R0206:Slc1a3 UTSW 15 8,738,040 (GRCm39) splice site probably benign
R0312:Slc1a3 UTSW 15 8,665,721 (GRCm39) missense probably benign 0.00
R0385:Slc1a3 UTSW 15 8,668,619 (GRCm39) missense probably damaging 1.00
R0538:Slc1a3 UTSW 15 8,680,406 (GRCm39) missense probably benign
R0579:Slc1a3 UTSW 15 8,717,793 (GRCm39) missense probably damaging 0.98
R1799:Slc1a3 UTSW 15 8,717,888 (GRCm39) missense probably damaging 1.00
R2029:Slc1a3 UTSW 15 8,675,153 (GRCm39) missense probably benign 0.29
R3236:Slc1a3 UTSW 15 8,668,607 (GRCm39) missense probably damaging 0.98
R4494:Slc1a3 UTSW 15 8,668,579 (GRCm39) missense probably damaging 1.00
R5010:Slc1a3 UTSW 15 8,680,330 (GRCm39) splice site probably benign
R5154:Slc1a3 UTSW 15 8,672,433 (GRCm39) missense probably benign 0.09
R5226:Slc1a3 UTSW 15 8,671,709 (GRCm39) missense probably damaging 1.00
R5538:Slc1a3 UTSW 15 8,675,188 (GRCm39) missense probably damaging 0.99
R6049:Slc1a3 UTSW 15 8,675,177 (GRCm39) missense probably damaging 1.00
R6072:Slc1a3 UTSW 15 8,738,052 (GRCm39) missense probably damaging 0.99
R6496:Slc1a3 UTSW 15 8,679,065 (GRCm39) missense probably benign 0.01
R7015:Slc1a3 UTSW 15 8,679,052 (GRCm39) missense probably damaging 1.00
R7168:Slc1a3 UTSW 15 8,675,386 (GRCm39) missense possibly damaging 0.79
R7255:Slc1a3 UTSW 15 8,672,483 (GRCm39) missense possibly damaging 0.90
R7476:Slc1a3 UTSW 15 8,672,568 (GRCm39) missense probably damaging 0.99
R7732:Slc1a3 UTSW 15 8,680,472 (GRCm39) missense probably benign 0.09
R8041:Slc1a3 UTSW 15 8,665,683 (GRCm39) missense probably benign 0.17
R8500:Slc1a3 UTSW 15 8,671,853 (GRCm39) missense probably damaging 0.97
R8525:Slc1a3 UTSW 15 8,680,423 (GRCm39) missense possibly damaging 0.93
R8525:Slc1a3 UTSW 15 8,672,459 (GRCm39) missense possibly damaging 0.52
R8698:Slc1a3 UTSW 15 8,668,636 (GRCm39) missense probably damaging 1.00
R9711:Slc1a3 UTSW 15 8,675,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGATCAGCCACTTCATC -3'
(R):5'- TGGCGGCCCTAGATAGTAAG -3'

Sequencing Primer
(F):5'- CATCATCTATGTGGGATCAGAAGAC -3'
(R):5'- CGGCCCTAGATAGTAAGGCATC -3'
Posted On 2021-10-11