Incidental Mutation 'R2154:Slc6a1'
ID 234614
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 040157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2154 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 114259735-114294491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114284731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 263 (G263V)
Ref Sequence ENSEMBL: ENSMUSP00000032454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032454] [ENSMUST00000204074]
AlphaFold P31648
Predicted Effect probably damaging
Transcript: ENSMUST00000032454
AA Change: G263V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: G263V

DomainStartEndE-ValueType
Pfam:SNF 44 559 6.1e-235 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204074
AA Change: G79V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: G79V

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 0.9732 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,959 (GRCm39) E363G probably benign Het
Abca3 A G 17: 24,596,693 (GRCm39) Y382C probably damaging Het
Abca5 A G 11: 110,183,000 (GRCm39) I1019T probably benign Het
Acox3 A T 5: 35,762,568 (GRCm39) S481C probably damaging Het
Ankrd7 T A 6: 18,870,030 (GRCm39) M261K probably benign Het
Aqr A C 2: 113,967,485 (GRCm39) M510R probably damaging Het
Arpc1a A T 5: 145,029,369 (GRCm39) T56S probably benign Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Aspg A G 12: 112,087,408 (GRCm39) E288G probably benign Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Cabcoco1 A G 10: 68,267,092 (GRCm39) L205P probably damaging Het
Cant1 A G 11: 118,302,263 (GRCm39) L18P probably damaging Het
Cdca2 G A 14: 67,914,425 (GRCm39) P945S probably damaging Het
Cfap74 A G 4: 155,513,753 (GRCm39) K522E possibly damaging Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cpa6 A T 1: 10,407,547 (GRCm39) M330K probably damaging Het
Creb3l4 G T 3: 90,145,792 (GRCm39) N246K probably damaging Het
Cyp2c55 T A 19: 39,022,819 (GRCm39) V319D probably damaging Het
Dapk1 T A 13: 60,877,317 (GRCm39) S519T probably benign Het
Dhx38 T C 8: 110,287,306 (GRCm39) S221G probably benign Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dock4 T A 12: 40,870,661 (GRCm39) V1467E probably damaging Het
Dock4 ACCTGCTCTGCC ACCTGCTCTGCCTGCTCTGCC 12: 40,894,547 (GRCm39) probably benign Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Ercc6l2 T C 13: 64,013,821 (GRCm39) S631P probably damaging Het
Fat4 A T 3: 38,941,688 (GRCm39) S194C probably damaging Het
Fcsk T A 8: 111,615,704 (GRCm39) T542S probably benign Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gdf10 T C 14: 33,656,346 (GRCm39) I436T probably damaging Het
Gfod1 T C 13: 43,456,946 (GRCm39) T10A possibly damaging Het
Gucy1a1 A G 3: 82,018,458 (GRCm39) probably null Het
Heatr5b G T 17: 79,138,873 (GRCm39) Q90K probably benign Het
Ikzf3 T A 11: 98,376,475 (GRCm39) K211* probably null Het
Itgam A C 7: 127,684,749 (GRCm39) D373A probably damaging Het
Itpripl2 A G 7: 118,089,107 (GRCm39) F484S probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Kif16b T C 2: 142,532,500 (GRCm39) K1213R probably damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Mtf2 A G 5: 108,228,797 (GRCm39) K38E possibly damaging Het
Myh14 A C 7: 44,301,853 (GRCm39) probably null Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nfkb1 T C 3: 135,307,240 (GRCm39) T562A probably benign Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Pds5a A T 5: 65,807,841 (GRCm39) V464E probably damaging Het
Peak1 C T 9: 56,114,496 (GRCm39) V452M probably damaging Het
Phf2 T C 13: 48,973,549 (GRCm39) Y372C unknown Het
Poc1a T A 9: 106,162,773 (GRCm39) probably null Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Psmc2 C G 5: 22,008,127 (GRCm39) L344V possibly damaging Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Rabgap1 T C 2: 37,365,453 (GRCm39) V242A probably damaging Het
Rad1 C A 15: 10,486,721 (GRCm39) H39Q possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Samd9l C T 6: 3,372,945 (GRCm39) D1439N possibly damaging Het
Sbno1 A T 5: 124,516,574 (GRCm39) D1266E probably benign Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc22a13 T C 9: 119,037,753 (GRCm39) K125R probably benign Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Smg1 A T 7: 117,757,299 (GRCm39) probably benign Het
Spinkl A T 18: 44,302,194 (GRCm39) N32K probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tmco6 T C 18: 36,874,740 (GRCm39) V409A probably benign Het
Tstd2 T C 4: 46,129,235 (GRCm39) T198A probably damaging Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r45 T A 6: 89,910,965 (GRCm39) S2C possibly damaging Het
Vmn2r25 T A 6: 123,816,805 (GRCm39) T259S probably benign Het
Vmn2r70 A G 7: 85,212,923 (GRCm39) S495P possibly damaging Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Yme1l1 T C 2: 23,052,520 (GRCm39) L58P probably damaging Het
Zan G A 5: 137,412,511 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,466,801 (GRCm39) T2320A possibly damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly 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
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
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'- ACCAGGCTAGAAATCCAGGG -3'
(R):5'- AACTGATCAAGGTCAGAGTCG -3'

Sequencing Primer
(F):5'- CTAGAAATCCAGGGATGGGGC -3'
(R):5'- AGGTCAGAGTCGACATCTTCATCG -3'
Posted On 2014-10-01