Incidental Mutation 'R0128:Slc1a3'
ID 21526
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 038413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0128 (G1)
Quality Score 215
Status Validated (trace)
Chromosome 15
Chromosomal Location 8663608-8740248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8665693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 519 (M519V)
Ref Sequence ENSEMBL: ENSMUSP00000005493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005493]
AlphaFold P56564
Predicted Effect probably benign
Transcript: ENSMUST00000005493
AA Change: M519V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: M519V

DomainStartEndE-ValueType
Pfam:SDF 50 497 8.5e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125997
Meta Mutation Damage Score 0.0586 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.6%
  • 10x: 93.0%
  • 20x: 79.3%
Validation Efficiency 99% (84/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,602 (GRCm39) probably benign Het
Abcd4 T G 12: 84,659,126 (GRCm39) Q210P possibly damaging Het
Ablim2 G A 5: 35,966,520 (GRCm39) probably benign Het
Acte1 G T 7: 143,445,492 (GRCm39) G178C probably damaging Het
Actl6b A G 5: 137,553,327 (GRCm39) N113S probably benign Het
Actn3 A T 19: 4,921,643 (GRCm39) V179E probably damaging Het
Aff4 C A 11: 53,306,293 (GRCm39) T1145N probably damaging Het
Ankrd42 G A 7: 92,241,067 (GRCm39) Q431* probably null Het
Anxa9 A G 3: 95,209,733 (GRCm39) S129P probably benign Het
Arfgef2 T G 2: 166,677,639 (GRCm39) I88S probably damaging Het
Asap3 C A 4: 135,961,915 (GRCm39) N285K probably damaging Het
Atp6v0a2 A G 5: 124,790,248 (GRCm39) N477S probably damaging Het
Atp7b C T 8: 22,518,188 (GRCm39) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm39) probably null Het
C87436 G A 6: 86,446,809 (GRCm39) G533D probably damaging Het
Ccdc138 T A 10: 58,364,182 (GRCm39) I314N probably damaging Het
Ccs A G 19: 4,875,654 (GRCm39) F237S probably damaging Het
Ccz1 T G 5: 143,946,112 (GRCm39) probably benign Het
Cdcp2 C T 4: 106,963,904 (GRCm39) probably benign Het
Chd1 A G 17: 17,613,829 (GRCm39) N531S probably damaging Het
Clptm1 A T 7: 19,368,932 (GRCm39) F476I probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cped1 T A 6: 22,121,038 (GRCm39) Y373N probably benign Het
Cr2 A T 1: 194,848,539 (GRCm39) V328D probably damaging Het
D630045J12Rik A T 6: 38,126,706 (GRCm39) probably benign Het
Dcdc2a A T 13: 25,371,655 (GRCm39) probably benign Het
Dlg1 G T 16: 31,676,883 (GRCm39) probably null Het
Epb41l5 A C 1: 119,477,632 (GRCm39) V705G possibly damaging Het
Ergic3 C A 2: 155,853,060 (GRCm39) R43S possibly damaging Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,608,903 (GRCm39) Y928H probably damaging Het
Fyn C T 10: 39,387,978 (GRCm39) T78M probably benign Het
Gdap2 A G 3: 100,109,311 (GRCm39) T443A probably damaging Het
Ghrl A T 6: 113,694,129 (GRCm39) probably benign Het
Gm4787 T A 12: 81,424,521 (GRCm39) K546* probably null Het
Gm6576 C G 15: 27,026,086 (GRCm39) noncoding transcript Het
Got1 C T 19: 43,512,816 (GRCm39) D27N probably benign Het
Gucy2c C T 6: 136,681,247 (GRCm39) V946I probably damaging Het
Hectd4 T C 5: 121,487,306 (GRCm39) Y3434H possibly damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Itpr1 A G 6: 108,448,170 (GRCm39) probably benign Het
Kctd1 G A 18: 15,107,237 (GRCm39) P743S probably benign Het
Klhl23 T C 2: 69,664,310 (GRCm39) V553A probably damaging Het
Krt24 T C 11: 99,171,093 (GRCm39) D495G probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Lipo3 C T 19: 33,534,506 (GRCm39) probably null Het
Lman2l G T 1: 36,463,945 (GRCm39) S171* probably null Het
Lrp1b T C 2: 41,401,520 (GRCm39) D378G probably damaging Het
Map3k4 T A 17: 12,466,950 (GRCm39) D1104V probably damaging Het
Mpeg1 T C 19: 12,438,587 (GRCm39) V15A probably benign Het
Narf C T 11: 121,141,662 (GRCm39) R356C probably damaging Het
Nebl T A 2: 17,397,834 (GRCm39) Q487H possibly damaging Het
Olfm5 G A 7: 103,810,133 (GRCm39) A76V probably benign Het
Or1j11 T A 2: 36,312,299 (GRCm39) D296E probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or52p1 A T 7: 104,267,788 (GRCm39) I301F probably damaging Het
Or5ak22 T A 2: 85,230,305 (GRCm39) S191C probably damaging Het
Or8k40 T C 2: 86,584,231 (GRCm39) M284V probably benign Het
Palb2 A T 7: 121,727,389 (GRCm39) Y160* probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Paxip1 C T 5: 27,949,183 (GRCm39) probably benign Het
Pclo A G 5: 14,729,811 (GRCm39) probably benign Het
Pdcd11 G A 19: 47,108,301 (GRCm39) V1223I probably benign Het
Pde6c T C 19: 38,157,813 (GRCm39) probably benign Het
Prr12 A G 7: 44,699,463 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,281 (GRCm39) probably benign Het
Samd5 A G 10: 9,550,683 (GRCm39) W9R probably damaging Het
Sfr1 A G 19: 47,723,457 (GRCm39) *320W probably null Het
Sft2d1rt A G 11: 45,943,120 (GRCm39) M1T probably null Het
Sh3bp4 A G 1: 89,073,036 (GRCm39) N628S possibly damaging Het
Sim1 A T 10: 50,784,057 (GRCm39) I104F probably damaging Het
Smcp T A 3: 92,491,827 (GRCm39) T7S unknown Het
Sp4 A G 12: 118,264,551 (GRCm39) probably benign Het
Spag9 T A 11: 93,984,365 (GRCm39) I327N probably damaging Het
Thbs4 G T 13: 92,890,918 (GRCm39) H850N probably benign Het
Ubap2l A T 3: 89,928,680 (GRCm39) S478T possibly damaging Het
Unc79 A G 12: 103,054,693 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,255,054 (GRCm39) probably benign Het
Wrap73 A G 4: 154,226,957 (GRCm39) D19G possibly damaging 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
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
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'- TGGGAACCTCTCAGCTACTCAATGG -3'
(R):5'- TCTCCAGCCAACTCACGATAGGTG -3'

Sequencing Primer
(F):5'- CAGGATCGTTTGCCACCTAAATTG -3'
(R):5'- ATAGGTGCTGGGATCTAGTGG -3'
Posted On 2013-04-11