Incidental Mutation 'IGL02865:Slc1a1'
ID362311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc1a1
Ensembl Gene ENSMUSG00000024935
Gene Namesolute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SynonymsD130048G10Rik, MEAAC1, EAAC1, EAAT3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02865
Quality Score
Status
Chromosome19
Chromosomal Location28835049-28913960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28905338 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 334 (A334E)
Ref Sequence ENSEMBL: ENSMUSP00000025875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025875] [ENSMUST00000175647] [ENSMUST00000179171]
Predicted Effect probably damaging
Transcript: ENSMUST00000025875
AA Change: A334E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: A334E

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,517,940 E293G probably benign Het
Avl9 C A 6: 56,736,873 T372N probably damaging Het
Ccni C T 5: 93,183,336 V135I probably benign Het
Dnah17 A G 11: 118,073,548 F2481S probably damaging Het
Dnajc10 A G 2: 80,331,303 D295G probably benign Het
Homer2 A G 7: 81,610,332 F265S probably damaging Het
Hsp90aa1 A G 12: 110,693,082 V476A probably benign Het
Jarid2 T C 13: 44,910,560 L855P probably damaging Het
Kif26a T A 12: 112,177,615 C1434* probably null Het
Lpo A G 11: 87,806,977 V668A possibly damaging Het
Med12l T C 3: 59,294,292 Y1973H probably damaging Het
Mep1b C A 18: 21,093,384 H434Q probably benign Het
Ngly1 T A 14: 16,290,939 probably benign Het
Ptprn A T 1: 75,262,363 F9L probably damaging Het
Sema6d T A 2: 124,664,073 N600K probably damaging Het
Son A G 16: 91,651,752 E67G probably damaging Het
Tpmt T C 13: 47,025,402 Y229C probably benign Het
Vmn2r23 A T 6: 123,741,619 I644F probably damaging Het
Whrn T C 4: 63,415,492 M906V probably benign Het
Zfp938 A T 10: 82,226,192 F198Y probably benign Het
Other mutations in Slc1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Slc1a1 APN 19 28902753 missense possibly damaging 0.66
IGL02726:Slc1a1 APN 19 28911769 missense probably benign 0.04
R0008:Slc1a1 UTSW 19 28901484 missense probably benign 0.01
R0008:Slc1a1 UTSW 19 28901484 missense probably benign 0.01
R0490:Slc1a1 UTSW 19 28897531 missense probably benign
R1219:Slc1a1 UTSW 19 28904746 splice site probably benign
R1333:Slc1a1 UTSW 19 28835211 start gained probably benign
R1623:Slc1a1 UTSW 19 28904722 missense probably benign 0.09
R1669:Slc1a1 UTSW 19 28911794 missense probably benign 0.04
R1746:Slc1a1 UTSW 19 28894469 missense probably benign 0.31
R2516:Slc1a1 UTSW 19 28892912 missense probably benign 0.31
R4198:Slc1a1 UTSW 19 28901452 missense probably benign 0.00
R4199:Slc1a1 UTSW 19 28901452 missense probably benign 0.00
R4200:Slc1a1 UTSW 19 28901452 missense probably benign 0.00
R4432:Slc1a1 UTSW 19 28902709 missense probably benign 0.21
R4744:Slc1a1 UTSW 19 28894525 missense probably benign
R5110:Slc1a1 UTSW 19 28911808 missense probably benign 0.14
R5341:Slc1a1 UTSW 19 28897568 missense probably benign
R6136:Slc1a1 UTSW 19 28905410 missense probably damaging 1.00
R6153:Slc1a1 UTSW 19 28909535 missense probably damaging 0.98
R6640:Slc1a1 UTSW 19 28894570 critical splice donor site probably null
RF020:Slc1a1 UTSW 19 28879155 critical splice donor site probably null
Posted On2015-12-18