Incidental Mutation 'IGL01985:Slc6a11'
ID181877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a11
Ensembl Gene ENSMUSG00000030307
Gene Namesolute carrier family 6 (neurotransmitter transporter, GABA), member 11
SynonymsGabt4, E130202I16Rik, Gat3, D930045G19Rik, GAT4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01985
Quality Score
Status
Chromosome6
Chromosomal Location114131241-114249952 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114134892 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 140 (V140D)
Ref Sequence ENSEMBL: ENSMUSP00000032451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032451]
Predicted Effect probably benign
Transcript: ENSMUST00000032451
AA Change: V140D

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307
AA Change: V140D

DomainStartEndE-ValueType
low complexity region 25 33 N/A INTRINSIC
Pfam:SNF 45 571 4.1e-250 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203105
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 sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted mutation display postnatal lethality. Mice heterozygous for a targeted mutation display resistance to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cass4 A C 2: 172,427,206 S403R probably damaging Het
Ccdc175 A T 12: 72,128,278 Y540* probably null Het
Cep164 C T 9: 45,779,606 E1266K probably damaging Het
Clec12b T A 6: 129,382,371 probably benign Het
Col6a5 T C 9: 105,937,283 K510R unknown Het
Crisp4 G A 1: 18,134,065 P101S probably damaging Het
Dapk1 T C 13: 60,736,260 L614P probably damaging Het
Dip2c T C 13: 9,553,267 probably benign Het
Dock7 A G 4: 99,023,377 F589L probably benign Het
Dvl2 T A 11: 70,008,293 V459E probably damaging Het
E2f6 T C 12: 16,819,063 probably null Het
Exph5 T C 9: 53,376,569 L1650P probably damaging Het
Farp2 A G 1: 93,607,602 Y691C probably damaging Het
Fshb T C 2: 107,058,828 T44A probably benign Het
Gm13178 G A 4: 144,715,454 Q76* probably null Het
Gm28044 T A 13: 67,347,894 K28* probably null Het
Il12b G A 11: 44,408,054 W112* probably null Het
Ino80 T C 2: 119,433,321 T621A probably damaging Het
Irx5 T A 8: 92,359,527 probably benign Het
Jmy T C 13: 93,459,636 H495R possibly damaging Het
Kif21a A T 15: 90,991,767 V321D probably damaging Het
Lrrc10 T A 10: 117,046,016 D198E probably damaging Het
Lrsam1 T C 2: 32,928,091 E651G probably benign Het
Marc1 A G 1: 184,787,734 V230A probably damaging Het
Mylk4 T A 13: 32,717,581 I475L possibly damaging Het
Myom3 G A 4: 135,765,702 probably null Het
Olfr201 A T 16: 59,269,079 V196E probably benign Het
Pah G A 10: 87,578,982 V399M probably damaging Het
Pik3r4 G A 9: 105,663,045 E711K probably benign Het
Rbbp6 A G 7: 122,971,073 K38E probably damaging Het
Ror1 G A 4: 100,425,964 V409M possibly damaging Het
Srebf2 G T 15: 82,192,359 A737S probably benign Het
Tcerg1 A G 18: 42,530,656 T303A unknown Het
Tmem74 A T 15: 43,867,080 I189N probably damaging Het
Tnr A G 1: 159,919,037 D1242G possibly damaging Het
U2surp A T 9: 95,490,226 F293L probably damaging Het
Uchl5 G A 1: 143,786,126 probably benign Het
Usp34 T A 11: 23,452,565 C2472S probably damaging Het
Usp42 G A 5: 143,715,185 R1028W probably damaging Het
Vmn2r10 A G 5: 109,006,259 S60P probably benign Het
Vmn2r31 G T 7: 7,394,511 D249E probably benign Het
Vnn1 C T 10: 23,900,744 T331I probably benign Het
Zmym6 G T 4: 127,100,748 V232F probably damaging Het
Other mutations in Slc6a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Slc6a11 APN 6 114134665 missense probably damaging 1.00
IGL01306:Slc6a11 APN 6 114134665 missense probably damaging 1.00
IGL01308:Slc6a11 APN 6 114134665 missense probably damaging 1.00
IGL01616:Slc6a11 APN 6 114134868 missense possibly damaging 0.93
IGL02270:Slc6a11 APN 6 114238396 missense probably damaging 1.00
IGL02692:Slc6a11 APN 6 114162139 missense probably damaging 1.00
IGL02828:Slc6a11 APN 6 114134987 missense possibly damaging 0.53
IGL03135:Slc6a11 APN 6 114194609 critical splice acceptor site probably null
ANU23:Slc6a11 UTSW 6 114134665 missense probably damaging 1.00
R0603:Slc6a11 UTSW 6 114244890 missense probably benign 0.03
R1147:Slc6a11 UTSW 6 114244870 missense possibly damaging 0.90
R1147:Slc6a11 UTSW 6 114244870 missense possibly damaging 0.90
R1219:Slc6a11 UTSW 6 114225811 splice site probably benign
R1226:Slc6a11 UTSW 6 114194663 missense possibly damaging 0.93
R1676:Slc6a11 UTSW 6 114247666 missense probably benign
R2231:Slc6a11 UTSW 6 114194629 missense probably damaging 1.00
R2297:Slc6a11 UTSW 6 114131425 missense probably benign 0.37
R4384:Slc6a11 UTSW 6 114247727 missense possibly damaging 0.47
R4556:Slc6a11 UTSW 6 114244812 missense probably benign 0.00
R4564:Slc6a11 UTSW 6 114131362 missense probably benign 0.00
R5488:Slc6a11 UTSW 6 114243894 missense probably damaging 1.00
R5736:Slc6a11 UTSW 6 114162162 missense probably damaging 1.00
R6021:Slc6a11 UTSW 6 114230051 missense probably damaging 1.00
R6150:Slc6a11 UTSW 6 114245618 missense probably benign 0.08
R6733:Slc6a11 UTSW 6 114134898 missense probably damaging 1.00
R7391:Slc6a11 UTSW 6 114238461 missense probably benign
R7451:Slc6a11 UTSW 6 114245683 nonsense probably null
R7750:Slc6a11 UTSW 6 114230137 missense possibly damaging 0.82
Z1177:Slc6a11 UTSW 6 114247642 missense probably damaging 0.96
Posted On2014-05-07