Incidental Mutation 'R5341:Slc1a1'
ID 422363
Institutional Source Beutler Lab
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
MMRRC Submission 042920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5341 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 28812535-28891360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28874968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 182 (V182E)
Ref Sequence ENSEMBL: ENSMUSP00000025875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025875] [ENSMUST00000175647] [ENSMUST00000179171]
AlphaFold P51906
Predicted Effect probably benign
Transcript: ENSMUST00000025875
AA Change: V182E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: V182E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (64/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,223,236 (GRCm39) D15G unknown Het
Actr5 C A 2: 158,467,144 (GRCm39) S28* probably null Het
Adcy1 A C 11: 7,080,375 (GRCm39) M373L probably damaging Het
Adcyap1r1 C G 6: 55,455,054 (GRCm39) F111L probably benign Het
Arid5b A T 10: 68,113,957 (GRCm39) F27I possibly damaging Het
Art5 C A 7: 101,747,306 (GRCm39) V158L probably benign Het
Bora T A 14: 99,305,530 (GRCm39) Y300N probably damaging Het
Cd300a A G 11: 114,784,288 (GRCm39) T99A probably damaging Het
Cdon A G 9: 35,381,431 (GRCm39) Y607C probably damaging Het
Cenatac A G 9: 44,328,406 (GRCm39) probably null Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Cstdc7 A G 18: 42,306,496 (GRCm39) D21G possibly damaging Het
Dhx8 AGACCGGGACCGGGACCGGGACCGGGAC AGACCGGGACCGGGACCGGGAC 11: 101,629,016 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,219,534 (GRCm39) E136G possibly damaging Het
Enox1 A C 14: 77,815,096 (GRCm39) T85P possibly damaging Het
Fanci T C 7: 79,055,926 (GRCm39) L158P probably damaging Het
Gbgt1 C A 2: 28,395,019 (GRCm39) T219N probably damaging Het
Gulo T C 14: 66,225,707 (GRCm39) D373G probably benign Het
Hivep2 C A 10: 14,008,336 (GRCm39) Q1645K possibly damaging Het
Iqce A C 5: 140,675,814 (GRCm39) M114R possibly damaging Het
Lmbrd1 A T 1: 24,785,892 (GRCm39) K396* probably null Het
Lrrk2 A T 15: 91,657,061 (GRCm39) D1785V probably damaging Het
Matcap1 A T 8: 106,011,687 (GRCm39) M226K probably damaging Het
Mcmdc2 ATAAAAAAAAAGGAAAAATTACCTT AT 1: 10,011,142 (GRCm39) probably null Het
Mepce A G 5: 137,781,522 (GRCm39) V564A probably damaging Het
Mmp17 A T 5: 129,679,193 (GRCm39) D364V possibly damaging Het
Mrgpre T C 7: 143,335,246 (GRCm39) N86D probably benign Het
Ms4a20 T C 19: 11,087,745 (GRCm39) probably benign Het
Or2r11 A T 6: 42,437,098 (GRCm39) L285Q probably damaging Het
Or4f53 T A 2: 111,087,982 (GRCm39) I174K probably damaging Het
Pate11 A T 9: 36,388,357 (GRCm39) K61* probably null Het
Pax5 T C 4: 44,697,630 (GRCm39) D35G probably damaging Het
Pip5k1b T A 19: 24,281,440 (GRCm39) T473S probably benign Het
Pkd2l2 A G 18: 34,542,987 (GRCm39) probably null Het
Pygo2 C A 3: 89,340,067 (GRCm39) P155Q probably damaging Het
Rb1cc1 G T 1: 6,285,266 (GRCm39) probably benign Het
Rbpj A G 5: 53,799,425 (GRCm39) E80G possibly damaging Het
Sbno1 A C 5: 124,546,538 (GRCm39) probably null Het
Slc34a3 A T 2: 25,120,671 (GRCm39) F419I probably benign Het
Snx8 A G 5: 140,343,886 (GRCm39) V62A probably damaging Het
Sp9 T C 2: 73,104,858 (GRCm39) S471P possibly damaging Het
Sspo A T 6: 48,436,549 (GRCm39) S1270C probably damaging Het
Stk11 A T 10: 79,962,094 (GRCm39) T83S probably benign Het
Syt13 A G 2: 92,783,897 (GRCm39) E389G probably benign Het
Taf10 T C 7: 105,390,139 (GRCm39) probably benign Het
Tgm1 A T 14: 55,937,705 (GRCm39) S801R possibly damaging Het
Thoc2l A T 5: 104,665,942 (GRCm39) T155S probably damaging Het
Timeless T C 10: 128,083,047 (GRCm39) F628L possibly damaging Het
Tmem171 G T 13: 98,824,956 (GRCm39) P225T probably damaging Het
Tspan12 A T 6: 21,835,458 (GRCm39) C72S possibly damaging Het
Txk T C 5: 72,853,964 (GRCm39) T458A probably benign Het
Txndc9 A G 1: 38,026,704 (GRCm39) probably benign Het
Uap1 C A 1: 169,971,000 (GRCm39) C464F probably damaging Het
Ugt2b36 A T 5: 87,240,087 (GRCm39) Y99* probably null Het
Usp35 T C 7: 96,975,134 (GRCm39) Y13C probably damaging Het
Vmn1r6 T G 6: 56,979,789 (GRCm39) N128K probably damaging Het
Vmn2r106 T A 17: 20,497,788 (GRCm39) I484L probably benign Het
Zdbf2 T A 1: 63,347,092 (GRCm39) S1824T probably benign Het
Zdhhc4 A G 5: 143,311,915 (GRCm39) V19A probably benign Het
Zfp955b C T 17: 33,524,095 (GRCm39) probably benign Het
Zfp97 T A 17: 17,365,472 (GRCm39) C324S probably damaging Het
Zswim8 G A 14: 20,766,122 (GRCm39) D803N probably damaging Het
Other mutations in Slc1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Slc1a1 APN 19 28,880,153 (GRCm39) missense possibly damaging 0.66
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
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
Predicted Primers PCR Primer
(F):5'- TTAGTCCCAATGCCTTCTGGG -3'
(R):5'- CTACAGGCATGTCTGGAAGAG -3'

Sequencing Primer
(F):5'- CATCAGTAGAACCCTTGGGTGTCAG -3'
(R):5'- GGGGTAGACTCAGAAATGTGGATTCC -3'
Posted On 2016-08-04