Incidental Mutation 'R9383:Slc1a1'
ID 710185
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9383 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 28812535-28891360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28889125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 466 (K466R)
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: K466R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: K466R

DomainStartEndE-ValueType
Pfam:SDF 20 464 2.3e-135 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 95,661,162 (GRCm39) E124G Het
Atp1a2 T C 1: 172,107,334 (GRCm39) I729V probably benign Het
Ccn2 T G 10: 24,471,883 (GRCm39) V58G possibly damaging Het
Chd2 T A 7: 73,098,918 (GRCm39) E1467V probably null Het
Col6a5 T C 9: 105,803,110 (GRCm39) D1285G unknown Het
Coro7 A G 16: 4,452,888 (GRCm39) C287R probably damaging Het
Cpa3 T C 3: 20,283,045 (GRCm39) E134G probably benign Het
Csf3r C T 4: 125,937,239 (GRCm39) P708S possibly damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A T 7: 119,646,819 (GRCm39) I1070K probably benign Het
Dnm2 G A 9: 21,383,920 (GRCm39) V234M probably damaging Het
Drg2 T A 11: 60,350,287 (GRCm39) M82K probably benign Het
Dus2 G A 8: 106,776,950 (GRCm39) E312K probably benign Het
Efcab6 T C 15: 83,756,620 (GRCm39) E1240G possibly damaging Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Gpnmb A G 6: 49,028,918 (GRCm39) S479G probably damaging Het
Gpr153 T C 4: 152,367,516 (GRCm39) S456P probably benign Het
Gprc5b A T 7: 118,575,761 (GRCm39) M388K probably damaging Het
H2-T23 T C 17: 36,343,227 (GRCm39) D50G possibly damaging Het
Hipk1 T C 3: 103,684,883 (GRCm39) E244G probably damaging Het
Malrd1 T A 2: 15,700,012 (GRCm39) C620S unknown Het
Maz G A 7: 126,624,083 (GRCm39) Q358* probably null Het
Mcc A T 18: 44,575,985 (GRCm39) I901N probably benign Het
Megf11 T G 9: 64,545,732 (GRCm39) C172G probably damaging Het
Mipol1 A G 12: 57,352,820 (GRCm39) Y53C probably benign Het
Nectin4 C T 1: 171,213,251 (GRCm39) T391I probably damaging Het
Nell2 A T 15: 95,282,957 (GRCm39) Y362N possibly damaging Het
Nphp4 T C 4: 152,628,918 (GRCm39) probably null Het
Nsun4 A G 4: 115,891,473 (GRCm39) V302A probably benign Het
Odf2 T A 2: 29,791,249 (GRCm39) L181H probably damaging Het
Opn1sw A G 6: 29,378,000 (GRCm39) S328P possibly damaging Het
Or8k30 T C 2: 86,338,854 (GRCm39) I17T probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Pik3c2g T A 6: 139,827,742 (GRCm39) Y712* probably null Het
Pkd1 C T 17: 24,794,900 (GRCm39) R2196C probably damaging Het
Pkd1l3 TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA 8: 110,350,601 (GRCm39) probably benign Het
Plekhm2 A T 4: 141,359,612 (GRCm39) M385K probably damaging Het
Pole T C 5: 110,438,892 (GRCm39) V164A possibly damaging Het
Prr19 T A 7: 25,002,335 (GRCm39) F11Y probably damaging Het
Prtg G T 9: 72,757,143 (GRCm39) L355F probably benign Het
Raph1 C A 1: 60,564,829 (GRCm39) M219I unknown Het
Rtkn2 A G 10: 67,839,094 (GRCm39) D140G possibly damaging Het
Serpina5 T C 12: 104,070,131 (GRCm39) S343P probably damaging Het
Slc43a1 G A 2: 84,690,506 (GRCm39) V518M probably damaging Het
Slc47a2 A G 11: 61,227,749 (GRCm39) L125P probably damaging Het
Slc4a7 C A 14: 14,766,803 (GRCm38) C585* probably null Het
Snx19 A G 9: 30,347,196 (GRCm39) E713G probably damaging Het
Tiam1 C T 16: 89,655,561 (GRCm39) V715M probably damaging Het
Tln2 T A 9: 67,278,043 (GRCm39) M322L probably benign Het
Top2a G A 11: 98,901,884 (GRCm39) R449* probably null Het
Trpv4 C A 5: 114,796,474 (GRCm39) probably benign Het
Vmn1r214 A C 13: 23,219,095 (GRCm39) R196S probably benign Het
Vmn1r43 A T 6: 89,846,552 (GRCm39) H311Q possibly damaging Het
Vmn1r54 A G 6: 90,247,009 (GRCm39) T308A probably benign Het
Zfand3 T A 17: 30,354,479 (GRCm39) Y99N probably benign Het
Zfp119b T C 17: 56,246,355 (GRCm39) Y277C probably damaging Het
Zfp345 G A 2: 150,314,503 (GRCm39) H345Y possibly damaging Het
Zyg11a T C 4: 108,046,926 (GRCm39) E516G 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
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
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'- GCCCTTTAGAAACCACCCTCTG -3'
(R):5'- ACTGTGAGGTCTGAGTGAACG -3'

Sequencing Primer
(F):5'- TCCAGGCCTGAAGCTTCTG -3'
(R):5'- AACGAGATGGTGTCAGATTTGTCTAC -3'
Posted On 2022-04-18