Incidental Mutation 'IGL02170:Slc1a1'
ID 282862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc1a1
Ensembl Gene ENSMUSG00000024935
Gene Name solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
Synonyms D130048G10Rik, EAAC1, MEAAC1, EAAT3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02170
Quality Score
Status
Chromosome 19
Chromosomal Location 28812535-28891360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28880153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 278 (F278I)
Ref Sequence ENSEMBL: ENSMUSP00000025875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025875] [ENSMUST00000175647] [ENSMUST00000179171]
AlphaFold P51906
Predicted Effect possibly damaging
Transcript: ENSMUST00000025875
AA Change: F278I

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: F278I

DomainStartEndE-ValueType
Pfam:SDF 20 464 2.3e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162189
Predicted Effect probably benign
Transcript: ENSMUST00000175647
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 6 78 4.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179171
SMART Domains Protein: ENSMUSP00000137486
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
Coding Region Coverage
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 the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced locomotor activity and excessive excretion of glutamate and aspartate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,196 (GRCm39) P176L probably damaging Het
4932414N04Rik A G 2: 68,561,467 (GRCm39) M265V probably benign Het
A2ml1 T C 6: 128,524,173 (GRCm39) E1153G possibly damaging Het
Adam22 T C 5: 8,184,845 (GRCm39) T452A probably benign Het
Ambra1 A G 2: 91,597,432 (GRCm39) T56A possibly damaging Het
Atp1a4 A G 1: 172,062,103 (GRCm39) V674A possibly damaging Het
Ccnb1 A T 13: 100,919,994 (GRCm39) Y172* probably null Het
Chrdl2 A T 7: 99,683,821 (GRCm39) T416S possibly damaging Het
Col6a5 A G 9: 105,805,621 (GRCm39) L1095P unknown Het
Dhx16 T C 17: 36,200,361 (GRCm39) C901R probably damaging Het
Dip2c A G 13: 9,656,371 (GRCm39) T732A probably benign Het
Dnah12 A C 14: 26,495,069 (GRCm39) I1376L probably damaging Het
Dock2 A T 11: 34,217,949 (GRCm39) L1207Q probably damaging Het
Eif2ak1 A T 5: 143,816,278 (GRCm39) H192L probably benign Het
Evi5 T A 5: 107,969,750 (GRCm39) T54S probably benign Het
Fam151a T C 4: 106,592,795 (GRCm39) probably null Het
Fam98a C T 17: 75,847,187 (GRCm39) probably null Het
Frmd4a G A 2: 4,570,988 (GRCm39) R306K probably damaging Het
Fxyd7 C A 7: 30,744,432 (GRCm39) V28L possibly damaging Het
Gabrb1 T A 5: 72,294,073 (GRCm39) I449K probably damaging Het
Gkn3 G T 6: 87,360,493 (GRCm39) D167E possibly damaging Het
Gm14496 A T 2: 181,638,144 (GRCm39) Y406F probably damaging Het
Gm8603 T A 17: 13,737,073 (GRCm39) noncoding transcript Het
Hecw1 T C 13: 14,438,743 (GRCm39) N880S possibly damaging Het
Hivep2 C A 10: 14,003,548 (GRCm39) Q49K possibly damaging Het
Hscb T A 5: 110,987,492 (GRCm39) S35C probably damaging Het
Hspa12a T G 19: 58,793,113 (GRCm39) K357N probably benign Het
Kcnu1 A T 8: 26,427,588 (GRCm39) I302F probably damaging Het
Krtap5-3 T A 7: 141,756,215 (GRCm39) C351S unknown Het
Mvd A G 8: 123,164,747 (GRCm39) V142A probably benign Het
Myo1f A T 17: 33,797,246 (GRCm39) I143L probably benign Het
Ncoa7 T A 10: 30,565,849 (GRCm39) E599D possibly damaging Het
Nfasc A T 1: 132,538,104 (GRCm39) C495* probably null Het
Nfx1 G A 4: 41,018,019 (GRCm39) G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 (GRCm38) noncoding transcript Het
Nup85 T A 11: 115,468,757 (GRCm39) V200E probably damaging Het
Or2z2 T A 11: 58,345,906 (GRCm39) I290F probably damaging Het
Or5an1c T C 19: 12,218,120 (GRCm39) M302V probably benign Het
Pask T C 1: 93,238,606 (GRCm39) Q1293R possibly damaging Het
Ppfia2 T A 10: 106,636,646 (GRCm39) S232T probably benign Het
Prr12 G A 7: 44,695,612 (GRCm39) R1285W unknown Het
Rimoc1 C T 15: 4,015,848 (GRCm39) V239I probably benign Het
Rxylt1 A T 10: 121,930,548 (GRCm39) D126E probably damaging Het
Sos1 G T 17: 80,705,719 (GRCm39) T1284N probably damaging Het
Sp2 T A 11: 96,847,036 (GRCm39) Q475L probably damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Sspo A T 6: 48,444,917 (GRCm39) T2134S possibly damaging Het
Tbx1 C A 16: 18,401,552 (GRCm39) A300S probably benign Het
Uap1 A C 1: 169,994,281 (GRCm39) V65G probably benign Het
Ubr2 G A 17: 47,278,123 (GRCm39) T738I probably benign Het
Uvrag A T 7: 98,758,297 (GRCm39) Y81* probably null Het
Vmn2r116 T G 17: 23,603,907 (GRCm39) I44S probably benign Het
Xkr8 A T 4: 132,455,688 (GRCm39) Y228* probably null Het
Zbtb20 A G 16: 43,430,025 (GRCm39) I106V possibly damaging Het
Zc3h7a C T 16: 10,964,259 (GRCm39) S683N probably benign Het
Zfp146 A T 7: 29,861,905 (GRCm39) C46S possibly damaging Het
Zfp871 T C 17: 32,994,662 (GRCm39) E152G possibly damaging Het
Zfp90 T C 8: 107,146,156 (GRCm39) V57A probably damaging Het
Zhx3 A T 2: 160,621,718 (GRCm39) N816K probably damaging Het
Other mutations in Slc1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Slc1a1 APN 19 28,889,169 (GRCm39) missense probably benign 0.04
IGL02865:Slc1a1 APN 19 28,882,738 (GRCm39) missense probably damaging 1.00
R0008:Slc1a1 UTSW 19 28,878,884 (GRCm39) missense probably benign 0.01
R0008:Slc1a1 UTSW 19 28,878,884 (GRCm39) missense probably benign 0.01
R0490:Slc1a1 UTSW 19 28,874,931 (GRCm39) missense probably benign
R1219:Slc1a1 UTSW 19 28,882,146 (GRCm39) splice site probably benign
R1333:Slc1a1 UTSW 19 28,812,611 (GRCm39) start gained probably benign
R1623:Slc1a1 UTSW 19 28,882,122 (GRCm39) missense probably benign 0.09
R1669:Slc1a1 UTSW 19 28,889,194 (GRCm39) missense probably benign 0.04
R1746:Slc1a1 UTSW 19 28,871,869 (GRCm39) missense probably benign 0.31
R2516:Slc1a1 UTSW 19 28,870,312 (GRCm39) missense probably benign 0.31
R4198:Slc1a1 UTSW 19 28,878,852 (GRCm39) missense probably benign 0.00
R4199:Slc1a1 UTSW 19 28,878,852 (GRCm39) missense probably benign 0.00
R4200:Slc1a1 UTSW 19 28,878,852 (GRCm39) missense probably benign 0.00
R4432:Slc1a1 UTSW 19 28,880,109 (GRCm39) missense probably benign 0.21
R4744:Slc1a1 UTSW 19 28,871,925 (GRCm39) missense probably benign
R5110:Slc1a1 UTSW 19 28,889,208 (GRCm39) missense probably benign 0.14
R5341:Slc1a1 UTSW 19 28,874,968 (GRCm39) missense probably benign
R6136:Slc1a1 UTSW 19 28,882,810 (GRCm39) missense probably damaging 1.00
R6153:Slc1a1 UTSW 19 28,886,935 (GRCm39) missense probably damaging 0.98
R6640:Slc1a1 UTSW 19 28,871,970 (GRCm39) critical splice donor site probably null
R7950:Slc1a1 UTSW 19 28,889,161 (GRCm39) missense probably benign 0.00
R8182:Slc1a1 UTSW 19 28,878,848 (GRCm39) missense probably benign 0.07
R8534:Slc1a1 UTSW 19 28,882,746 (GRCm39) missense probably damaging 1.00
R8962:Slc1a1 UTSW 19 28,886,869 (GRCm39) missense probably damaging 1.00
R9222:Slc1a1 UTSW 19 28,882,794 (GRCm39) missense probably benign 0.12
R9383:Slc1a1 UTSW 19 28,889,125 (GRCm39) missense probably benign 0.01
R9513:Slc1a1 UTSW 19 28,812,734 (GRCm39) critical splice donor site probably null
R9655:Slc1a1 UTSW 19 28,870,283 (GRCm39) missense probably damaging 0.98
R9773:Slc1a1 UTSW 19 28,870,283 (GRCm39) missense probably damaging 0.98
R9774:Slc1a1 UTSW 19 28,870,283 (GRCm39) missense probably damaging 0.98
RF020:Slc1a1 UTSW 19 28,856,555 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16