Incidental Mutation 'IGL03093:Slc6a13'
ID 418459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a13
Ensembl Gene ENSMUSG00000030108
Gene Name solute carrier family 6 (neurotransmitter transporter, GABA), member 13
Synonyms Gabt3, Gat2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # IGL03093
Quality Score
Status
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121309407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 306 (Y306C)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580]
AlphaFold P31649
Predicted Effect probably damaging
Transcript: ENSMUST00000064580
AA Change: Y306C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: Y306C

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142021
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Slc6a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Slc6a13 APN 6 121,298,600 (GRCm39) missense probably damaging 1.00
IGL01947:Slc6a13 APN 6 121,302,116 (GRCm39) critical splice donor site probably null
IGL01969:Slc6a13 APN 6 121,312,601 (GRCm39) missense probably damaging 1.00
IGL02546:Slc6a13 APN 6 121,310,323 (GRCm39) missense probably benign
IGL02988:Slc6a13 APN 6 121,303,066 (GRCm39) unclassified probably benign
IGL03358:Slc6a13 APN 6 121,311,495 (GRCm39) missense probably benign
IGL03384:Slc6a13 APN 6 121,309,350 (GRCm39) missense probably damaging 1.00
ANU74:Slc6a13 UTSW 6 121,311,835 (GRCm39) missense probably benign 0.42
R0217:Slc6a13 UTSW 6 121,301,279 (GRCm39) missense probably damaging 0.99
R0230:Slc6a13 UTSW 6 121,301,262 (GRCm39) missense probably benign 0.03
R0744:Slc6a13 UTSW 6 121,279,826 (GRCm39) missense probably damaging 1.00
R1546:Slc6a13 UTSW 6 121,309,333 (GRCm39) missense possibly damaging 0.78
R1604:Slc6a13 UTSW 6 121,309,328 (GRCm39) missense probably benign 0.02
R1654:Slc6a13 UTSW 6 121,313,885 (GRCm39) missense probably benign
R1781:Slc6a13 UTSW 6 121,311,811 (GRCm39) missense probably damaging 0.99
R1978:Slc6a13 UTSW 6 121,309,332 (GRCm39) missense probably damaging 1.00
R2130:Slc6a13 UTSW 6 121,302,000 (GRCm39) missense possibly damaging 0.77
R4570:Slc6a13 UTSW 6 121,313,101 (GRCm39) critical splice donor site probably null
R4623:Slc6a13 UTSW 6 121,302,104 (GRCm39) missense probably damaging 0.99
R4755:Slc6a13 UTSW 6 121,302,008 (GRCm39) missense probably damaging 1.00
R5068:Slc6a13 UTSW 6 121,310,301 (GRCm39) missense probably damaging 0.99
R5485:Slc6a13 UTSW 6 121,313,032 (GRCm39) missense probably damaging 1.00
R5687:Slc6a13 UTSW 6 121,279,700 (GRCm39) missense probably benign 0.00
R6045:Slc6a13 UTSW 6 121,298,587 (GRCm39) missense probably damaging 1.00
R6235:Slc6a13 UTSW 6 121,279,753 (GRCm39) missense probably benign 0.02
R6338:Slc6a13 UTSW 6 121,311,798 (GRCm39) missense probably damaging 0.96
R6393:Slc6a13 UTSW 6 121,313,801 (GRCm39) missense possibly damaging 0.83
R6844:Slc6a13 UTSW 6 121,302,012 (GRCm39) missense probably damaging 0.99
R7379:Slc6a13 UTSW 6 121,313,798 (GRCm39) nonsense probably null
R7734:Slc6a13 UTSW 6 121,314,334 (GRCm39) missense probably benign 0.00
R7800:Slc6a13 UTSW 6 121,298,658 (GRCm39) missense probably damaging 0.98
R7862:Slc6a13 UTSW 6 121,312,589 (GRCm39) missense probably damaging 1.00
R7935:Slc6a13 UTSW 6 121,311,450 (GRCm39) missense possibly damaging 0.46
R8177:Slc6a13 UTSW 6 121,301,987 (GRCm39) nonsense probably null
R8324:Slc6a13 UTSW 6 121,314,373 (GRCm39) makesense probably null
R8457:Slc6a13 UTSW 6 121,303,063 (GRCm39) splice site probably null
R8992:Slc6a13 UTSW 6 121,313,901 (GRCm39) nonsense probably null
R8995:Slc6a13 UTSW 6 121,302,012 (GRCm39) missense probably damaging 1.00
R9104:Slc6a13 UTSW 6 121,313,044 (GRCm39) missense probably benign
R9168:Slc6a13 UTSW 6 121,302,042 (GRCm39) missense probably damaging 1.00
R9235:Slc6a13 UTSW 6 121,301,984 (GRCm39) missense probably damaging 0.98
R9242:Slc6a13 UTSW 6 121,295,228 (GRCm39) missense probably damaging 0.99
RF020:Slc6a13 UTSW 6 121,301,310 (GRCm39) critical splice donor site probably null
Z1177:Slc6a13 UTSW 6 121,311,462 (GRCm39) missense possibly damaging 0.52
Posted On 2016-08-02