Incidental Mutation 'R9366:Slc6a1'
ID 708966
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R9366 (G1)
Quality Score 215.009
Status Not validated
Chromosome 6
Chromosomal Location 114259735-114294491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114280974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 176 (N176S)
Ref Sequence ENSEMBL: ENSMUSP00000032454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032454] [ENSMUST00000204074]
AlphaFold P31648
Predicted Effect possibly damaging
Transcript: ENSMUST00000032454
AA Change: N176S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: N176S

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

DomainStartEndE-ValueType
Pfam:SNF 1 375 1.2e-162 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C T 8: 71,914,328 (GRCm39) R100Q probably benign Het
Acp5 C T 9: 22,039,224 (GRCm39) C163Y probably damaging Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Atp2b4 C A 1: 133,642,920 (GRCm39) G1062C probably damaging Het
Bicral A T 17: 47,117,558 (GRCm39) M788K possibly damaging Het
C1s2 C A 6: 124,602,694 (GRCm39) A506S probably benign Het
Capn9 C G 8: 125,332,280 (GRCm39) T417S probably benign Het
Cd109 T G 9: 78,622,275 (GRCm39) S1422A probably benign Het
Cd207 G T 6: 83,648,779 (GRCm39) N294K probably damaging Het
Cdc42bpa A G 1: 179,921,675 (GRCm39) E605G probably damaging Het
Cdhr1 C A 14: 36,811,463 (GRCm39) G216V possibly damaging Het
Ckap2 A T 8: 22,658,988 (GRCm39) M585K possibly damaging Het
Clp1 G T 2: 84,556,473 (GRCm39) S2R probably benign Het
Cngb3 G T 4: 19,395,983 (GRCm39) V342F probably benign Het
Col18a1 T C 10: 76,932,258 (GRCm39) D65G unknown Het
Col3a1 C T 1: 45,380,391 (GRCm39) P972S unknown Het
Cxcr5 C T 9: 44,424,730 (GRCm39) C309Y possibly damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcc A T 18: 71,708,281 (GRCm39) N478K probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Emsy A T 7: 98,290,860 (GRCm39) N101K probably benign Het
Epb41l5 A G 1: 119,548,448 (GRCm39) Y137H probably damaging Het
Etfdh C T 3: 79,519,271 (GRCm39) G354D probably benign Het
Fa2h A T 8: 112,076,006 (GRCm39) Y206N probably benign Het
Gabrr2 T C 4: 33,085,771 (GRCm39) V217A Het
Gimap4 A G 6: 48,668,037 (GRCm39) K264R probably benign Het
Gpr31b C A 17: 13,270,375 (GRCm39) D265Y probably damaging Het
Irx4 A G 13: 73,417,025 (GRCm39) T474A probably benign Het
Kif21a T C 15: 90,843,951 (GRCm39) E1096G probably damaging Het
Letm2 A T 8: 26,084,165 (GRCm39) V22E probably damaging Het
Lrrc45 A G 11: 120,611,552 (GRCm39) E642G probably damaging Het
Mark1 A T 1: 184,653,792 (GRCm39) V170E probably damaging Het
Mbd6 G A 10: 127,122,304 (GRCm39) Q175* probably null Het
Mrc1 T A 2: 14,321,709 (GRCm39) D1067E probably damaging Het
Muc5b A G 7: 141,417,041 (GRCm39) H3329R probably benign Het
Myh1 A T 11: 67,110,114 (GRCm39) D1434V probably damaging Het
Myo5a T A 9: 75,124,800 (GRCm39) L1785Q probably damaging Het
Myrfl A G 10: 116,670,358 (GRCm39) I295T possibly damaging Het
Nav3 C A 10: 109,659,364 (GRCm39) R751L probably damaging Het
Neb T C 2: 52,172,699 (GRCm39) K1536R probably benign Het
Nynrin T G 14: 56,100,587 (GRCm39) S126A probably damaging Het
Or13p3 A T 4: 118,566,831 (GRCm39) T76S probably damaging Het
Or5m8 A G 2: 85,822,731 (GRCm39) D190G possibly damaging Het
Or6c69c A T 10: 129,911,067 (GRCm39) K263* probably null Het
Parp14 A C 16: 35,659,630 (GRCm39) probably null Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pin1 C A 9: 20,566,841 (GRCm39) T81N probably damaging Het
Pkhd1l1 T C 15: 44,410,308 (GRCm39) I2605T probably benign Het
Plcb3 A G 19: 6,937,658 (GRCm39) probably null Het
Proser3 G A 7: 30,248,478 (GRCm39) S72L probably damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Pwp1 T A 10: 85,717,870 (GRCm39) N269K probably damaging Het
Qsox1 A G 1: 155,665,162 (GRCm39) S260P probably benign Het
Ric3 A G 7: 108,653,644 (GRCm39) L149P probably damaging Het
Rif1 A G 2: 52,010,356 (GRCm39) T707A Het
Rnf213 A C 11: 119,327,057 (GRCm39) R1682S Het
Rpgrip1l G T 8: 91,996,809 (GRCm39) Y690* probably null Het
Slc29a2 A G 19: 5,074,609 (GRCm39) T34A probably damaging Het
Slco1b2 T A 6: 141,602,552 (GRCm39) Y168* probably null Het
Snca C A 6: 60,792,675 (GRCm39) A78S probably benign Het
Snrnp200 T A 2: 127,058,010 (GRCm39) D257E probably benign Het
Srebf2 T C 15: 82,083,837 (GRCm39) V959A probably benign Het
Stk3 A C 15: 35,072,634 (GRCm39) I209S probably damaging Het
Thsd7a A T 6: 12,555,480 (GRCm39) C135S Het
Tlnrd1 G T 7: 83,531,582 (GRCm39) A283E probably benign Het
Tomm70a A T 16: 56,970,259 (GRCm39) K546* probably null Het
Trak1 C T 9: 121,301,578 (GRCm39) T778I probably damaging Het
Trappc9 T C 15: 72,808,937 (GRCm39) I709V probably benign Het
Trgc3 A G 13: 19,446,825 (GRCm39) T115A probably benign Het
Trp53rkb T C 2: 166,637,700 (GRCm39) S219P possibly damaging Het
Ubqlnl G C 7: 103,798,592 (GRCm39) L302V possibly damaging Het
Uqcc1 C A 2: 155,771,995 (GRCm39) probably benign Het
Vps13a G A 19: 16,672,894 (GRCm39) R1293W probably damaging Het
Vps9d1 G T 8: 123,974,486 (GRCm39) S267* probably null Het
Vwa5b1 A T 4: 138,318,229 (GRCm39) I546N probably damaging Het
Zbtb8b A T 4: 129,326,151 (GRCm39) M338K probably benign Het
Zfp652 C T 11: 95,643,833 (GRCm39) R344* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCTTGGAGGGGCAAGAGTTC -3'
(R):5'- CACTGTCTATTGGCAATCCCAG -3'

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