Incidental Mutation 'R8698:Slc1a3'
ID 668875
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 068552-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 8663608-8740248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8668636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 443 (I443N)
Ref Sequence ENSEMBL: ENSMUSP00000005493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005493]
AlphaFold P56564
Predicted Effect probably damaging
Transcript: ENSMUST00000005493
AA Change: I443N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: I443N

DomainStartEndE-ValueType
Pfam:SDF 50 497 8.5e-135 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,247,250 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,714 (GRCm39) N1384S probably benign Het
Adgre1 T C 17: 57,709,003 (GRCm39) S65P probably benign Het
Adgrl4 G T 3: 151,203,512 (GRCm39) C124F probably damaging Het
Aldh1b1 G A 4: 45,802,942 (GRCm39) G160D probably damaging Het
Alpi T G 1: 87,028,208 (GRCm39) D205A probably damaging Het
AW146154 C A 7: 41,129,934 (GRCm39) R394L probably benign Het
Bcl10 G A 3: 145,639,022 (GRCm39) M221I probably benign Het
Brpf3 G A 17: 29,037,436 (GRCm39) R768H probably damaging Het
Cad G T 5: 31,234,819 (GRCm39) R2116L probably benign Het
Cand2 G T 6: 115,763,852 (GRCm39) R258L probably damaging Het
Car4 A T 11: 84,855,009 (GRCm39) N119I probably benign Het
Carmil1 C T 13: 24,220,229 (GRCm39) G1165D probably damaging Het
Ccdc66 T C 14: 27,212,647 (GRCm39) T403A probably benign Het
Cdon T G 9: 35,398,269 (GRCm39) probably null Het
Cemip T C 7: 83,607,790 (GRCm39) I739V probably damaging Het
Cep85l A G 10: 53,234,201 (GRCm39) I59T probably damaging Het
Clec4f A T 6: 83,630,267 (GRCm39) V97D probably benign Het
Cnot6l A G 5: 96,225,149 (GRCm39) C515R probably damaging Het
Cntnap2 G A 6: 47,026,156 (GRCm39) G935D probably damaging Het
Cntrl A G 2: 35,023,974 (GRCm39) H553R probably damaging Het
Cops3 A G 11: 59,708,886 (GRCm39) S423P probably damaging Het
Cox15 C T 19: 43,739,948 (GRCm39) R39H probably benign Het
Ctnna2 A G 6: 77,630,100 (GRCm39) V131A probably benign Het
Dcst2 T A 3: 89,276,044 (GRCm39) F392I probably benign Het
Decr1 A G 4: 15,922,483 (GRCm39) probably null Het
Dennd3 A C 15: 73,394,154 (GRCm39) T60P possibly damaging Het
Dipk1a A T 5: 108,057,776 (GRCm39) F261I probably damaging Het
Dmxl2 T C 9: 54,281,953 (GRCm39) N2859S probably benign Het
Dnah12 A T 14: 26,428,418 (GRCm39) I280F probably benign Het
Dnah8 A C 17: 31,094,009 (GRCm39) D4701A probably damaging Het
Dyrk1a C A 16: 94,487,414 (GRCm39) H541Q possibly damaging Het
Eml4 T C 17: 83,785,345 (GRCm39) S906P probably benign Het
Fam169a G T 13: 97,243,578 (GRCm39) V203F probably damaging Het
Fmn1 C T 2: 113,260,152 (GRCm39) L682F unknown Het
Gli2 T C 1: 118,769,887 (GRCm39) Y555C probably damaging Het
Gm3278 A G 14: 16,081,505 (GRCm39) Y130C possibly damaging Het
Gm8237 T A 14: 5,863,554 (GRCm38) Y37F probably damaging Het
Golga4 T G 9: 118,385,029 (GRCm39) L717R probably damaging Het
Gtpbp4 C T 13: 9,024,249 (GRCm39) R568H probably benign Het
Il1f10 A G 2: 24,183,197 (GRCm39) N47S probably damaging Het
Itga6 A G 2: 71,673,618 (GRCm39) H884R probably benign Het
Kdm1a T C 4: 136,286,518 (GRCm39) K482R probably benign Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 T A 2: 69,278,583 (GRCm39) R3923S probably benign Het
Lrp2 C T 2: 69,288,767 (GRCm39) V3700M probably benign Het
Lrrk2 A G 15: 91,636,400 (GRCm39) D1458G probably benign Het
Mapre2 T A 18: 24,011,090 (GRCm39) S233T probably benign Het
Mki67 T C 7: 135,296,937 (GRCm39) D2699G possibly damaging Het
Mthfr T A 4: 148,128,947 (GRCm39) Y214* probably null Het
Ncoa6 A T 2: 155,257,041 (GRCm39) M834K possibly damaging Het
Neurl2 C T 2: 164,675,054 (GRCm39) D103N probably benign Het
Niban3 T A 8: 72,060,159 (GRCm39) I93N unknown Het
Or1j15 T C 2: 36,458,915 (GRCm39) Y102H possibly damaging Het
Or2ag16 A T 7: 106,352,571 (GRCm39) V8E probably benign Het
Or2b7 G A 13: 21,739,890 (GRCm39) L101F probably damaging Het
P2ry14 A G 3: 59,022,596 (GRCm39) V288A possibly damaging Het
Pde6b G T 5: 108,576,105 (GRCm39) S730I possibly damaging Het
Pdpk1 A T 17: 24,298,542 (GRCm39) V496D probably damaging Het
Plekho2 A T 9: 65,463,554 (GRCm39) L432M probably damaging Het
Ppa2 T C 3: 133,082,362 (GRCm39) L151P unknown Het
Ppp2r3c G A 12: 55,328,499 (GRCm39) T422I probably benign Het
Prelid3a T C 18: 67,610,122 (GRCm39) S151P probably damaging Het
Rad21l G A 2: 151,487,373 (GRCm39) P537L probably damaging Het
Sacs T A 14: 61,450,802 (GRCm39) S4283T probably benign Het
Samd9l A T 6: 3,373,843 (GRCm39) D1139E probably benign Het
Scn9a G T 2: 66,366,628 (GRCm39) H718Q probably benign Het
Slc22a6 A G 19: 8,600,889 (GRCm39) M361V probably benign Het
Slc8a2 A G 7: 15,891,132 (GRCm39) Y724C probably damaging Het
Slf1 A T 13: 77,197,284 (GRCm39) S777T possibly damaging Het
Sltm T C 9: 70,494,352 (GRCm39) S901P probably benign Het
Smc1b A T 15: 84,997,047 (GRCm39) H524Q probably benign Het
Spast T C 17: 74,666,341 (GRCm39) S225P probably benign Het
Srsf12 C T 4: 33,231,246 (GRCm39) R252W probably damaging Het
Syne1 A G 10: 5,179,229 (GRCm39) L4415P probably damaging Het
Tmem117 A T 15: 94,535,990 (GRCm39) Y8F probably benign Het
Tmem241 T C 18: 12,197,288 (GRCm39) D180G possibly damaging Het
Tomm40 C T 7: 19,444,890 (GRCm39) V164I probably benign Het
Ttc41 T C 10: 86,548,841 (GRCm39) Y12H probably benign Het
Twnk T C 19: 44,996,299 (GRCm39) V244A probably benign Het
Ugt1a8 T C 1: 88,015,952 (GRCm39) S122P probably damaging Het
Vmn1r78 A G 7: 11,886,539 (GRCm39) K50R probably benign Het
Vmn2r10 A G 5: 109,151,390 (GRCm39) F75L probably benign Het
Wbp4 G T 14: 79,707,573 (GRCm39) Y179* probably null Het
Zfp106 A G 2: 120,354,600 (GRCm39) probably null Het
Zfp974 A T 7: 27,610,361 (GRCm39) C455S 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
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
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'- TAGAACTGTGGGGATCCTGGAG -3'
(R):5'- CTGGTGCTGGTTATACCTTACAAAATG -3'

Sequencing Primer
(F):5'- TCCTGGAGGGAGATGGGC -3'
(R):5'- GCTTGGCATATTAGCTGACAC -3'
Posted On 2021-04-30