Incidental Mutation 'IGL02828:Slc6a11'
ID 361291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a11
Ensembl Gene ENSMUSG00000030307
Gene Name solute carrier family 6 (neurotransmitter transporter, GABA), member 11
Synonyms GAT4, Gabt4, E130202I16Rik, Gat3, D930045G19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02828
Quality Score
Status
Chromosome 6
Chromosomal Location 114108202-114226847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114111948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 172 (T172S)
Ref Sequence ENSEMBL: ENSMUSP00000032451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032451]
AlphaFold P31650
Predicted Effect possibly damaging
Transcript: ENSMUST00000032451
AA Change: T172S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307
AA Change: T172S

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,871,720 (GRCm39) T86I probably damaging Het
Adam28 C T 14: 68,884,319 (GRCm39) S93N possibly damaging Het
Adamts6 T C 13: 104,433,978 (GRCm39) Y136H probably damaging Het
Ahdc1 A T 4: 132,790,232 (GRCm39) K491I possibly damaging Het
Alb C A 5: 90,615,247 (GRCm39) A253E probably benign Het
Asb18 A G 1: 89,923,932 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,718 (GRCm39) N1909K possibly damaging Het
Atosa G T 9: 74,913,714 (GRCm39) A123S probably damaging Het
Atp12a T A 14: 56,613,599 (GRCm39) V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 (GRCm38) G334W probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Clec2h T A 6: 128,652,885 (GRCm39) H217Q probably benign Het
Col6a3 T C 1: 90,724,281 (GRCm39) E1416G probably damaging Het
Dcaf1 T A 9: 106,721,501 (GRCm39) probably benign Het
Ddr2 C T 1: 169,816,082 (GRCm39) A542T probably benign Het
Ebf3 T C 7: 136,909,247 (GRCm39) N174S probably damaging Het
Ecpas A G 4: 58,875,512 (GRCm39) S151P possibly damaging Het
Ephb2 A G 4: 136,498,461 (GRCm39) I206T probably benign Het
Fbxo39 T A 11: 72,208,041 (GRCm39) I131N possibly damaging Het
Fdxacb1 G A 9: 50,682,864 (GRCm39) V276I possibly damaging Het
Gpr146 A T 5: 139,378,576 (GRCm39) Y126F probably damaging Het
Hivep3 A T 4: 119,954,929 (GRCm39) K1082* probably null Het
Ifnar1 T A 16: 91,302,304 (GRCm39) probably null Het
Kap A G 6: 133,829,057 (GRCm39) V25A probably benign Het
Klhl2 C A 8: 65,232,791 (GRCm39) R162L probably damaging Het
Kmt2a A G 9: 44,733,244 (GRCm39) probably benign Het
Lrp4 A G 2: 91,305,639 (GRCm39) N303S probably benign Het
Mtpap A T 18: 4,386,207 (GRCm39) N276Y probably damaging Het
Nlrp5 G A 7: 23,120,885 (GRCm39) G684S possibly damaging Het
Or10g3b T C 14: 52,586,799 (GRCm39) R235G probably benign Het
Or14a256 A T 7: 86,265,277 (GRCm39) V192E possibly damaging Het
Pak2 A T 16: 31,840,674 (GRCm39) L469H probably damaging Het
Pcdhb15 T A 18: 37,606,903 (GRCm39) L45Q probably damaging Het
Pi4ka A T 16: 17,098,575 (GRCm39) probably benign Het
Picalm A G 7: 89,826,709 (GRCm39) T386A probably benign Het
Pkd1l2 T C 8: 117,756,298 (GRCm39) T1645A probably benign Het
Plekhm2 A T 4: 141,356,941 (GRCm39) V754E probably damaging Het
Pramel25 A T 4: 143,521,695 (GRCm39) D437V possibly damaging Het
Rbl1 T A 2: 157,041,384 (GRCm39) E81V probably damaging Het
Rbp4 C A 19: 38,106,717 (GRCm39) probably null Het
Rdh12 T C 12: 79,265,459 (GRCm39) V211A probably damaging Het
Ret G A 6: 118,153,168 (GRCm39) A500V probably benign Het
Rin1 T C 19: 5,103,118 (GRCm39) F469S possibly damaging Het
Rmc1 C A 18: 12,322,278 (GRCm39) A577D possibly damaging Het
Rsc1a1 G T 4: 141,411,479 (GRCm39) P478T probably damaging Het
Setd2 A T 9: 110,390,282 (GRCm39) Y1579F probably benign Het
Sh3bp5 A T 14: 31,156,106 (GRCm39) probably benign Het
Slc22a13 G T 9: 119,024,773 (GRCm39) L235I probably benign Het
Slitrk1 G T 14: 109,149,048 (GRCm39) S554R possibly damaging Het
Tg G A 15: 66,554,243 (GRCm39) G553S probably damaging Het
Tmem26 G A 10: 68,611,215 (GRCm39) probably null Het
Trpm2 A T 10: 77,754,820 (GRCm39) L1222Q probably benign Het
Vdac2 T C 14: 21,893,957 (GRCm39) V249A probably benign Het
Vmn1r170 T C 7: 23,305,943 (GRCm39) V115A probably damaging Het
Vmn2r105 A G 17: 20,429,345 (GRCm39) V577A possibly damaging Het
Xpo1 A G 11: 23,232,593 (GRCm39) E371G probably damaging Het
Zfp106 A C 2: 120,362,178 (GRCm39) H980Q possibly damaging Het
Other mutations in Slc6a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Slc6a11 APN 6 114,111,626 (GRCm39) missense probably damaging 1.00
IGL01306:Slc6a11 APN 6 114,111,626 (GRCm39) missense probably damaging 1.00
IGL01308:Slc6a11 APN 6 114,111,626 (GRCm39) missense probably damaging 1.00
IGL01616:Slc6a11 APN 6 114,111,829 (GRCm39) missense possibly damaging 0.93
IGL01985:Slc6a11 APN 6 114,111,853 (GRCm39) missense probably benign 0.43
IGL02270:Slc6a11 APN 6 114,215,357 (GRCm39) missense probably damaging 1.00
IGL02692:Slc6a11 APN 6 114,139,100 (GRCm39) missense probably damaging 1.00
IGL03135:Slc6a11 APN 6 114,171,570 (GRCm39) critical splice acceptor site probably null
ANU23:Slc6a11 UTSW 6 114,111,626 (GRCm39) missense probably damaging 1.00
R0603:Slc6a11 UTSW 6 114,221,851 (GRCm39) missense probably benign 0.03
R1147:Slc6a11 UTSW 6 114,221,831 (GRCm39) missense possibly damaging 0.90
R1147:Slc6a11 UTSW 6 114,221,831 (GRCm39) missense possibly damaging 0.90
R1219:Slc6a11 UTSW 6 114,202,772 (GRCm39) splice site probably benign
R1226:Slc6a11 UTSW 6 114,171,624 (GRCm39) missense possibly damaging 0.93
R1676:Slc6a11 UTSW 6 114,224,627 (GRCm39) missense probably benign
R2231:Slc6a11 UTSW 6 114,171,590 (GRCm39) missense probably damaging 1.00
R2297:Slc6a11 UTSW 6 114,108,386 (GRCm39) missense probably benign 0.37
R4384:Slc6a11 UTSW 6 114,224,688 (GRCm39) missense possibly damaging 0.47
R4556:Slc6a11 UTSW 6 114,221,773 (GRCm39) missense probably benign 0.00
R4564:Slc6a11 UTSW 6 114,108,323 (GRCm39) missense probably benign 0.00
R5488:Slc6a11 UTSW 6 114,220,855 (GRCm39) missense probably damaging 1.00
R5736:Slc6a11 UTSW 6 114,139,123 (GRCm39) missense probably damaging 1.00
R6021:Slc6a11 UTSW 6 114,207,012 (GRCm39) missense probably damaging 1.00
R6150:Slc6a11 UTSW 6 114,222,579 (GRCm39) missense probably benign 0.08
R6733:Slc6a11 UTSW 6 114,111,859 (GRCm39) missense probably damaging 1.00
R7391:Slc6a11 UTSW 6 114,215,422 (GRCm39) missense probably benign
R7451:Slc6a11 UTSW 6 114,222,644 (GRCm39) nonsense probably null
R7750:Slc6a11 UTSW 6 114,207,098 (GRCm39) missense possibly damaging 0.82
R8115:Slc6a11 UTSW 6 114,108,442 (GRCm39) missense probably damaging 1.00
R8179:Slc6a11 UTSW 6 114,222,567 (GRCm39) missense probably benign 0.01
R8411:Slc6a11 UTSW 6 114,108,398 (GRCm39) missense probably benign 0.18
R8512:Slc6a11 UTSW 6 114,215,402 (GRCm39) missense probably damaging 1.00
R8774:Slc6a11 UTSW 6 114,206,995 (GRCm39) splice site probably benign
R8963:Slc6a11 UTSW 6 114,202,782 (GRCm39) critical splice acceptor site probably null
R9032:Slc6a11 UTSW 6 114,202,808 (GRCm39) missense probably damaging 1.00
R9056:Slc6a11 UTSW 6 114,220,905 (GRCm39) missense probably benign 0.00
R9085:Slc6a11 UTSW 6 114,202,808 (GRCm39) missense probably damaging 1.00
R9407:Slc6a11 UTSW 6 114,220,914 (GRCm39) missense probably damaging 1.00
Z1177:Slc6a11 UTSW 6 114,224,603 (GRCm39) missense probably damaging 0.96
Posted On 2015-12-18