Incidental Mutation 'R7255:Slc1a3'
ID 564223
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 045316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7255 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 8663608-8740248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8672483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 332 (V332A)
Ref Sequence ENSEMBL: ENSMUSP00000005493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005493]
AlphaFold P56564
Predicted Effect possibly damaging
Transcript: ENSMUST00000005493
AA Change: V332A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: V332A

DomainStartEndE-ValueType
Pfam:SDF 50 497 8.5e-135 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,692,092 (GRCm39) S234P probably damaging Het
Arhgap28 T C 17: 68,159,999 (GRCm39) H650R probably damaging Het
Asic1 A G 15: 99,595,338 (GRCm39) D355G probably damaging Het
Atp8b1 T A 18: 64,689,939 (GRCm39) S598C probably damaging Het
Bcat1 C A 6: 144,978,511 (GRCm39) E237* probably null Het
Btbd16 A T 7: 130,387,722 (GRCm39) I114F probably benign Het
Casp2 A G 6: 42,245,841 (GRCm39) D166G probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cpsf1 G A 15: 76,481,743 (GRCm39) T1099M probably damaging Het
Crisp4 C A 1: 18,200,455 (GRCm39) A116S probably damaging Het
Cyb5r3 A G 15: 83,044,366 (GRCm39) I168T probably damaging Het
Dip2b G A 15: 100,107,508 (GRCm39) D1407N probably benign Het
Dnajc8 A G 4: 132,278,884 (GRCm39) K201R probably benign Het
Dock10 C T 1: 80,520,816 (GRCm39) probably null Het
Dop1b C A 16: 93,567,034 (GRCm39) H1272N probably damaging Het
Dsc1 C T 18: 20,230,330 (GRCm39) R325Q probably benign Het
Enpp1 A T 10: 24,521,213 (GRCm39) I838K possibly damaging Het
Fcna T G 2: 25,516,040 (GRCm39) D159A probably damaging Het
Flnc G T 6: 29,445,765 (GRCm39) G840C probably damaging Het
Flt1 C T 5: 147,517,216 (GRCm39) A1024T probably damaging Het
Galc T C 12: 98,212,514 (GRCm39) K207R probably null Het
Gbp2b T A 3: 142,313,878 (GRCm39) L386Q probably damaging Het
Gm8297 T A 14: 16,165,868 (GRCm39) N48K probably damaging Het
Gm9639 G A 10: 77,630,372 (GRCm39) P180L unknown Het
Inpp5a A G 7: 139,091,364 (GRCm39) N116S probably damaging Het
Ipo9 T C 1: 135,313,726 (GRCm39) E984G probably benign Het
Klra4 A G 6: 130,036,605 (GRCm39) F145L probably damaging Het
Lag3 A G 6: 124,887,198 (GRCm39) L123P probably benign Het
Lyz3 T C 10: 117,070,327 (GRCm39) H150R probably benign Het
Med7 T A 11: 46,331,822 (GRCm39) M139K probably damaging Het
Mfsd2a A C 4: 122,845,814 (GRCm39) L153R possibly damaging Het
Mup9 A G 4: 60,377,336 (GRCm39) V71A probably benign Het
Myo16 A T 8: 10,549,169 (GRCm39) Q927L unknown Het
Myo9b T C 8: 71,743,535 (GRCm39) Y199H probably damaging Het
Nefm A G 14: 68,353,449 (GRCm39) F406L probably benign Het
Or10ag2 T A 2: 87,249,286 (GRCm39) L296Q probably damaging Het
Or10ak11 A T 4: 118,687,149 (GRCm39) F162I probably benign Het
Pamr1 T C 2: 102,441,929 (GRCm39) F173L probably damaging Het
Pds5b T A 5: 150,720,132 (GRCm39) D1205E probably benign Het
Plxna2 T G 1: 194,434,411 (GRCm39) F646V probably benign Het
Pnrc1 C T 4: 33,248,045 (GRCm39) G118D probably benign Het
Ppp1r16b T C 2: 158,603,311 (GRCm39) F412S probably benign Het
Prcc A T 3: 87,777,398 (GRCm39) V192E probably damaging Het
Psg19 A G 7: 18,527,973 (GRCm39) Y257H probably benign Het
Rfx7 T G 9: 72,527,110 (GRCm39) S1433R possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Sanbr G A 11: 23,570,465 (GRCm39) P145L probably benign Het
Sbspon G T 1: 15,954,021 (GRCm39) C86* probably null Het
Sdhb A G 4: 140,704,729 (GRCm39) E230G possibly damaging Het
Sema6b T C 17: 56,432,336 (GRCm39) T581A probably benign Het
Shkbp1 G T 7: 27,042,173 (GRCm39) T594K possibly damaging Het
Shpk A G 11: 73,090,486 (GRCm39) S48G probably benign Het
Slc25a25 T C 2: 32,311,384 (GRCm39) E135G possibly damaging Het
Slc5a8 A T 10: 88,745,493 (GRCm39) D367V probably damaging Het
Slco1c1 A G 6: 141,515,051 (GRCm39) T649A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats1 T A 17: 45,765,131 (GRCm39) D163V probably damaging Het
Ssh2 T A 11: 77,316,419 (GRCm39) M304K probably damaging Het
Sulf1 T A 1: 12,929,232 (GRCm39) D166E probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Tcf7l1 A T 6: 72,604,330 (GRCm39) probably null Het
Tet1 A T 10: 62,658,415 (GRCm39) M1477K probably benign Het
Tlr5 T C 1: 182,801,881 (GRCm39) F395S probably damaging Het
Trrap T C 5: 144,795,764 (GRCm39) L3847P probably damaging Het
Tsks C T 7: 44,602,112 (GRCm39) S276L probably benign Het
Uggt1 T C 1: 36,185,187 (GRCm39) E1519G probably damaging Het
Vps13a A G 19: 16,631,703 (GRCm39) probably null Het
Wdfy4 A G 14: 32,696,239 (GRCm39) V2768A Het
Wdr26 A C 1: 181,008,889 (GRCm39) I627R probably benign Het
Zfp160 T A 17: 21,245,749 (GRCm39) S100T 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
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
R8966:Slc1a3 UTSW 15 8,680,332 (GRCm39) critical splice donor site probably null
R9711:Slc1a3 UTSW 15 8,675,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGGAGGTACGATCAGGATC -3'
(R):5'- CCAAGCTTCCAATTGAGCATG -3'

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