Incidental Mutation 'IGL01155:Slc6a1'
ID 51403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a1
Ensembl Gene ENSMUSG00000030310
Gene Name solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Synonyms Gabt, Gat1, GAT-1, XT-1, Gabt1, Xtrp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL01155
Quality Score
Status
Chromosome 6
Chromosomal Location 114259735-114294491 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 114291426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032454] [ENSMUST00000204074]
AlphaFold P31648
Predicted Effect probably null
Transcript: ENSMUST00000032454
SMART Domains Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310

DomainStartEndE-ValueType
Pfam:SNF 44 559 6.1e-235 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204074
SMART Domains Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310

DomainStartEndE-ValueType
Pfam:SNF 1 375 1.2e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204540
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous hypomorphic mice display abnormal inhibitory postsynaptic currents, and abnormal GABA uptake and release. Null mice show hyperactivity and various behavioral abnormalities, as well as an aversion to bitter taste. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrl3 T A 5: 81,708,740 (GRCm39) I409N probably benign Het
Akap13 A G 7: 75,219,684 (GRCm39) D29G probably damaging Het
Ap4e1 C A 2: 126,885,365 (GRCm39) T322K probably damaging Het
Arfgef1 G A 1: 10,269,207 (GRCm39) probably benign Het
Asic5 A G 3: 81,915,895 (GRCm39) T282A probably benign Het
Bptf T C 11: 106,971,553 (GRCm39) T985A probably damaging Het
Btnl9 A G 11: 49,066,518 (GRCm39) F349L probably damaging Het
Bves T A 10: 45,229,955 (GRCm39) I253K probably damaging Het
Cars1 T A 7: 143,123,586 (GRCm39) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cuedc2 C A 19: 46,321,088 (GRCm39) V15F probably damaging Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Fat1 G A 8: 45,476,986 (GRCm39) A2011T probably damaging Het
Fyb2 C T 4: 104,856,583 (GRCm39) T533I probably benign Het
Gm1043 T C 5: 37,344,433 (GRCm39) L182P probably damaging Het
Ice1 A T 13: 70,752,201 (GRCm39) V1295E possibly damaging Het
Il12b T A 11: 44,294,915 (GRCm39) S18T probably benign Het
Iqcg A G 16: 32,861,245 (GRCm39) V157A probably damaging Het
Itgax T A 7: 127,744,207 (GRCm39) M937K probably benign Het
Large1 T C 8: 73,858,617 (GRCm39) S84G probably benign Het
Lrp1b T C 2: 41,660,947 (GRCm39) T54A probably benign Het
Mfn1 A G 3: 32,596,985 (GRCm39) M148V probably damaging Het
Mobp C A 9: 119,997,300 (GRCm39) T73K probably benign Het
Ms4a3 T C 19: 11,607,019 (GRCm39) probably benign Het
Muc5ac C T 7: 141,360,680 (GRCm39) probably benign Het
Mzt2 A C 16: 15,680,274 (GRCm39) S104A possibly damaging Het
Naa16 T A 14: 79,622,155 (GRCm39) K27N probably damaging Het
Nos1 T A 5: 118,083,991 (GRCm39) I1267N probably damaging Het
Or10j5 T A 1: 172,784,491 (GRCm39) I43N probably benign Het
Rara A G 11: 98,859,010 (GRCm39) E153G possibly damaging Het
Scn2a T G 2: 65,548,092 (GRCm39) S66A probably damaging Het
Sorbs3 A G 14: 70,436,790 (GRCm39) V136A probably damaging Het
Spink5 T A 18: 44,114,214 (GRCm39) H143Q probably benign Het
Susd2 G A 10: 75,476,726 (GRCm39) T99I possibly damaging Het
T C T 17: 8,660,577 (GRCm39) probably null Het
Tac2 G A 10: 127,562,003 (GRCm39) probably null Het
Tfap4 G T 16: 4,365,223 (GRCm39) P180T probably damaging Het
Trap1 G A 16: 3,861,842 (GRCm39) Q641* probably null Het
Unc119 A G 11: 78,239,435 (GRCm39) N252S probably damaging Het
Other mutations in Slc6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Slc6a1 APN 6 114,291,362 (GRCm39) missense probably damaging 1.00
IGL02004:Slc6a1 APN 6 114,291,286 (GRCm39) missense probably benign 0.35
IGL02437:Slc6a1 APN 6 114,285,578 (GRCm39) missense probably damaging 1.00
IGL02553:Slc6a1 APN 6 114,279,451 (GRCm39) intron probably benign
lewis UTSW 6 114,284,731 (GRCm39) missense probably damaging 1.00
phytotoxin UTSW 6 114,288,859 (GRCm39) missense probably damaging 1.00
sponges UTSW 6 114,279,761 (GRCm39) missense probably benign 0.13
BB008:Slc6a1 UTSW 6 114,288,863 (GRCm39) missense probably benign 0.00
BB010:Slc6a1 UTSW 6 114,288,859 (GRCm39) missense probably damaging 1.00
BB018:Slc6a1 UTSW 6 114,288,863 (GRCm39) missense probably benign 0.00
BB020:Slc6a1 UTSW 6 114,288,859 (GRCm39) missense probably damaging 1.00
R0178:Slc6a1 UTSW 6 114,281,813 (GRCm39) missense possibly damaging 0.82
R0238:Slc6a1 UTSW 6 114,279,761 (GRCm39) missense probably benign 0.13
R0238:Slc6a1 UTSW 6 114,279,761 (GRCm39) missense probably benign 0.13
R0239:Slc6a1 UTSW 6 114,279,761 (GRCm39) missense probably benign 0.13
R0239:Slc6a1 UTSW 6 114,279,761 (GRCm39) missense probably benign 0.13
R0408:Slc6a1 UTSW 6 114,279,761 (GRCm39) missense probably benign 0.13
R1165:Slc6a1 UTSW 6 114,288,790 (GRCm39) missense probably damaging 1.00
R1451:Slc6a1 UTSW 6 114,284,756 (GRCm39) nonsense probably null
R1535:Slc6a1 UTSW 6 114,284,731 (GRCm39) missense probably damaging 1.00
R1568:Slc6a1 UTSW 6 114,284,731 (GRCm39) missense probably damaging 1.00
R1900:Slc6a1 UTSW 6 114,288,815 (GRCm39) missense possibly damaging 0.50
R2011:Slc6a1 UTSW 6 114,284,731 (GRCm39) missense probably damaging 1.00
R2134:Slc6a1 UTSW 6 114,278,977 (GRCm39) missense probably benign
R2139:Slc6a1 UTSW 6 114,281,022 (GRCm39) missense possibly damaging 0.77
R2152:Slc6a1 UTSW 6 114,284,731 (GRCm39) missense probably damaging 1.00
R2154:Slc6a1 UTSW 6 114,284,731 (GRCm39) missense probably damaging 1.00
R2207:Slc6a1 UTSW 6 114,285,632 (GRCm39) missense probably damaging 1.00
R4627:Slc6a1 UTSW 6 114,285,067 (GRCm39) missense probably benign
R4690:Slc6a1 UTSW 6 114,279,792 (GRCm39) missense probably damaging 0.99
R4706:Slc6a1 UTSW 6 114,284,713 (GRCm39) missense possibly damaging 0.95
R4886:Slc6a1 UTSW 6 114,279,494 (GRCm39) missense possibly damaging 0.94
R4974:Slc6a1 UTSW 6 114,284,662 (GRCm39) missense probably damaging 0.97
R5219:Slc6a1 UTSW 6 114,287,182 (GRCm39) missense probably benign 0.18
R5354:Slc6a1 UTSW 6 114,279,584 (GRCm39) missense possibly damaging 0.46
R5361:Slc6a1 UTSW 6 114,279,493 (GRCm39) missense probably benign 0.00
R6448:Slc6a1 UTSW 6 114,279,047 (GRCm39) missense possibly damaging 0.82
R6678:Slc6a1 UTSW 6 114,284,737 (GRCm39) missense probably benign 0.00
R6941:Slc6a1 UTSW 6 114,290,473 (GRCm39) nonsense probably null
R7347:Slc6a1 UTSW 6 114,288,779 (GRCm39) missense probably damaging 0.99
R7811:Slc6a1 UTSW 6 114,279,515 (GRCm39) missense probably damaging 1.00
R7931:Slc6a1 UTSW 6 114,288,863 (GRCm39) missense probably benign 0.00
R7933:Slc6a1 UTSW 6 114,288,859 (GRCm39) missense probably damaging 1.00
R9143:Slc6a1 UTSW 6 114,292,503 (GRCm39) utr 3 prime probably benign
R9256:Slc6a1 UTSW 6 114,287,554 (GRCm39) missense possibly damaging 0.89
R9358:Slc6a1 UTSW 6 114,291,271 (GRCm39) missense probably damaging 1.00
R9366:Slc6a1 UTSW 6 114,280,974 (GRCm39) missense possibly damaging 0.69
Posted On 2013-06-21