Incidental Mutation 'R2134:Slc6a1'
ID233626
Institutional Source Beutler Lab
Gene Symbol Slc6a1
Ensembl Gene ENSMUSG00000030310
Gene Namesolute carrier family 6 (neurotransmitter transporter, GABA), member 1
SynonymsGat1, XT-1, Xtrp1, GAT-1, Gabt1, Gabt
MMRRC Submission 040137-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R2134 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location114282635-114317532 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 114302016 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 23 (A23S)
Ref Sequence ENSEMBL: ENSMUSP00000032454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032454] [ENSMUST00000204074]
Predicted Effect probably benign
Transcript: ENSMUST00000032454
AA Change: A23S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: A23S

DomainStartEndE-ValueType
Pfam:SNF 44 559 6.1e-235 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203330
Predicted Effect probably benign
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: ENSMUST00000204600
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 110,030,917 V1437E probably null Het
Adam12 G A 7: 134,012,288 R80* probably null Het
Adgrb3 G T 1: 25,093,957 F479L probably damaging Het
Atf7ip T A 6: 136,605,487 V1165E possibly damaging Het
Atm C T 9: 53,467,964 probably null Het
Atp11c A G X: 60,276,783 Y593H probably damaging Het
Btnl1 A G 17: 34,385,634 D463G possibly damaging Het
Cdc34b T G 11: 94,742,426 W151G probably damaging Het
Cdkal1 A G 13: 29,354,677 S500P possibly damaging Het
Cenpf T C 1: 189,658,642 N998D probably benign Het
Ces2e T A 8: 104,932,539 probably null Het
Chd7 A G 4: 8,753,147 Q548R probably damaging Het
Chfr T A 5: 110,144,761 probably null Het
Clu A G 14: 65,974,841 probably null Het
Cntnap5c A G 17: 58,407,722 D1235G probably damaging Het
Col6a4 T C 9: 106,066,661 S1205G probably benign Het
Ddx47 G T 6: 135,015,350 E113* probably null Het
Dock4 A G 12: 40,745,668 Y828C probably benign Het
Dync1h1 T A 12: 110,656,631 N3553K possibly damaging Het
Egflam C T 15: 7,234,279 C730Y probably damaging Het
Fam83b T C 9: 76,491,016 Y935C probably damaging Het
Fam83g A G 11: 61,703,684 I681M probably benign Het
Fastk T C 5: 24,445,141 R3G probably damaging Het
Fxr1 A T 3: 34,058,047 E367D probably damaging Het
Gatb A G 3: 85,611,370 D261G probably damaging Het
Gm5617 T C 9: 48,495,817 S84P possibly damaging Het
Gm6614 T C 6: 141,980,978 I541V probably damaging Het
Hecw1 C T 13: 14,377,700 E104K probably damaging Het
Il31ra T C 13: 112,543,888 K265R possibly damaging Het
Khsrp GTCATT GT 17: 57,024,410 probably null Het
Lrp2 T A 2: 69,511,067 D923V probably damaging Het
Ltn1 A G 16: 87,382,713 L1520P probably damaging Het
Magel2 G A 7: 62,379,096 V583I unknown Het
Map1s T G 8: 70,913,882 V477G probably benign Het
Mical1 T C 10: 41,482,712 L542P probably damaging Het
Mycbp2 T C 14: 103,208,893 Y1800C probably damaging Het
Mylk A T 16: 34,986,476 D1697V probably benign Het
Nlrp1a A T 11: 71,124,188 F79I probably benign Het
Olfr653 T C 7: 104,579,641 probably benign Het
Pde9a A G 17: 31,386,310 Y6C probably damaging Het
Plxnd1 A T 6: 115,957,548 I1808N probably damaging Het
Ppp1r13b T A 12: 111,833,733 T537S probably benign Het
Ppp2r2a A G 14: 67,016,475 F415L possibly damaging Het
Rabgap1 C T 2: 37,563,487 R976* probably null Het
Rbfox3 T C 11: 118,497,016 H195R probably damaging Het
Ripk4 A T 16: 97,743,733 D571E probably damaging Het
Sdhaf4 T A 1: 24,005,553 R16S probably benign Het
Slc17a1 G T 13: 23,875,675 G130* probably null Het
Soga3 T A 10: 29,196,399 Y562* probably null Het
Spock1 T A 13: 57,436,139 Q321L probably damaging Het
Syne2 A G 12: 75,952,786 I2318V probably damaging Het
Terf2ip T C 8: 112,011,639 V53A possibly damaging Het
Thrb T C 14: 18,033,487 F403L probably benign Het
Tktl2 G A 8: 66,512,347 V186M probably damaging Het
Uqcrfs1 T C 13: 30,540,804 K251R probably benign Het
Vmn2r111 T C 17: 22,573,104 E57G possibly damaging Het
Vmn2r114 T A 17: 23,291,763 Y581F probably damaging Het
Vps13d A G 4: 145,148,339 V1866A probably benign Het
Washc5 A T 15: 59,369,234 F84Y probably damaging Het
Yars T A 4: 129,197,199 Y28* probably null Het
Zfp638 A G 6: 83,928,982 Y43C probably damaging Het
Zfp750 T A 11: 121,513,932 H39L probably damaging Het
Zfr2 C A 10: 81,242,901 S322R probably damaging Het
Zzef1 A G 11: 72,880,624 D1644G probably benign Het
Other mutations in Slc6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Slc6a1 APN 6 114314465 splice site probably null
IGL01604:Slc6a1 APN 6 114314401 missense probably damaging 1.00
IGL02004:Slc6a1 APN 6 114314325 missense probably benign 0.35
IGL02437:Slc6a1 APN 6 114308617 missense probably damaging 1.00
IGL02553:Slc6a1 APN 6 114302490 intron probably benign
lewis UTSW 6 114307770 missense probably damaging 1.00
R0178:Slc6a1 UTSW 6 114304852 missense possibly damaging 0.82
R0238:Slc6a1 UTSW 6 114302800 missense probably benign 0.13
R0238:Slc6a1 UTSW 6 114302800 missense probably benign 0.13
R0239:Slc6a1 UTSW 6 114302800 missense probably benign 0.13
R0239:Slc6a1 UTSW 6 114302800 missense probably benign 0.13
R0408:Slc6a1 UTSW 6 114302800 missense probably benign 0.13
R1165:Slc6a1 UTSW 6 114311829 missense probably damaging 1.00
R1451:Slc6a1 UTSW 6 114307795 nonsense probably null
R1535:Slc6a1 UTSW 6 114307770 missense probably damaging 1.00
R1568:Slc6a1 UTSW 6 114307770 missense probably damaging 1.00
R1900:Slc6a1 UTSW 6 114311854 missense possibly damaging 0.50
R2011:Slc6a1 UTSW 6 114307770 missense probably damaging 1.00
R2139:Slc6a1 UTSW 6 114304061 missense possibly damaging 0.77
R2152:Slc6a1 UTSW 6 114307770 missense probably damaging 1.00
R2154:Slc6a1 UTSW 6 114307770 missense probably damaging 1.00
R2207:Slc6a1 UTSW 6 114308671 missense probably damaging 1.00
R4627:Slc6a1 UTSW 6 114308106 missense probably benign
R4690:Slc6a1 UTSW 6 114302831 missense probably damaging 0.99
R4706:Slc6a1 UTSW 6 114307752 missense possibly damaging 0.95
R4886:Slc6a1 UTSW 6 114302533 missense possibly damaging 0.94
R4974:Slc6a1 UTSW 6 114307701 missense probably damaging 0.97
R5219:Slc6a1 UTSW 6 114310221 missense probably benign 0.18
R5354:Slc6a1 UTSW 6 114302623 missense possibly damaging 0.46
R5361:Slc6a1 UTSW 6 114302532 missense probably benign 0.00
R6448:Slc6a1 UTSW 6 114302086 missense possibly damaging 0.82
R6678:Slc6a1 UTSW 6 114307776 missense probably benign 0.00
R6941:Slc6a1 UTSW 6 114313512 nonsense probably null
R7347:Slc6a1 UTSW 6 114311818 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGACCTGAAGGCAGTTTTATTTC -3'
(R):5'- AAAGACATGGTCCCAGGTGG -3'

Sequencing Primer
(F):5'- CCTGAAGGCAGTTTTATTTCTATGC -3'
(R):5'- GTCACCTACCGCCACCG -3'
Posted On2014-10-01