Incidental Mutation 'R0178:Slc6a1'
ID 23760
Institutional Source Beutler Lab
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
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0178 (G1)
Quality Score 178
Status Validated (trace)
Chromosome 6
Chromosomal Location 114259735-114294491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 114281813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 32 (I32S)
Ref Sequence ENSEMBL: ENSMUSP00000145080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032454] [ENSMUST00000204074]
AlphaFold P31648
Predicted Effect possibly damaging
Transcript: ENSMUST00000032454
AA Change: I216S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: I216S

DomainStartEndE-ValueType
Pfam:SNF 44 559 6.1e-235 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203330
Predicted Effect possibly damaging
Transcript: ENSMUST00000204074
AA Change: I32S

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: I32S

DomainStartEndE-ValueType
Pfam:SNF 1 375 1.2e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204600
Meta Mutation Damage Score 0.2328 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Slc6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Slc6a1 APN 6 114,291,426 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGTCCAAACCACAAGGTCACAGTG -3'
(R):5'- TCATCCCGTTTCAGAAGAATGAGCC -3'

Sequencing Primer
(F):5'- ACAGTGTGACTGGGACACC -3'
(R):5'- TGAGCCCAGGCATGGAG -3'
Posted On 2013-04-16