Incidental Mutation 'IGL01131:Slc6a13'
ID 51361
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 # IGL01131
Quality Score
Status
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121298600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 150 (Y150C)
Ref Sequence ENSEMBL: ENSMUSP00000120689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580] [ENSMUST00000142419]
AlphaFold P31649
Predicted Effect probably damaging
Transcript: ENSMUST00000064580
AA Change: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: Y139C

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142021
Predicted Effect probably damaging
Transcript: ENSMUST00000142419
AA Change: Y150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120689
Gene: ENSMUSG00000030108
AA Change: Y150C

DomainStartEndE-ValueType
Pfam:SNF 43 192 4e-78 PFAM
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Cfap20 T C 8: 96,151,287 (GRCm39) D18G probably damaging Het
Cpne3 T C 4: 19,543,318 (GRCm39) D160G probably damaging Het
Ercc3 A G 18: 32,402,942 (GRCm39) *784W probably null Het
Fam53b T C 7: 132,317,511 (GRCm39) E377G probably damaging Het
Far2 T C 6: 148,052,096 (GRCm39) V125A possibly damaging Het
Fasn T C 11: 120,705,445 (GRCm39) E1192G probably benign Het
Irf5 A G 6: 29,536,102 (GRCm39) E372G probably damaging Het
Kif2c C T 4: 117,029,562 (GRCm39) V140M probably damaging Het
Klre1 T C 6: 129,561,133 (GRCm39) F165L possibly damaging Het
Kmt2a C T 9: 44,732,467 (GRCm39) probably benign Het
Lrp2 C T 2: 69,329,583 (GRCm39) C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 (GRCm38) T1259N possibly damaging Het
Nlrp9b A G 7: 19,757,462 (GRCm39) D233G probably damaging Het
Nuf2 T C 1: 169,349,933 (GRCm39) probably benign Het
Nynrin A G 14: 56,110,142 (GRCm39) K1750E probably damaging Het
Or5b109 A G 19: 13,212,103 (GRCm39) D163G probably benign Het
Parp4 C A 14: 56,823,217 (GRCm39) probably benign Het
Rbms1 T C 2: 60,589,180 (GRCm39) M287V probably benign Het
Rhox3c G A X: 36,651,982 (GRCm39) R71K probably damaging Het
Rufy1 A G 11: 50,282,850 (GRCm39) L638P probably damaging Het
Slc15a3 G A 19: 10,834,986 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,683,280 (GRCm39) probably null Het
Slitrk6 A T 14: 110,989,008 (GRCm39) L233Q probably damaging Het
Ugt3a1 T A 15: 9,365,248 (GRCm39) I287N probably damaging Het
Unc13c T C 9: 73,471,335 (GRCm39) N1778S probably benign Het
Vmn1r212 T C 13: 23,067,329 (GRCm39) N335D unknown Het
Wdfy1 C T 1: 79,691,589 (GRCm39) V273I probably benign Het
Other mutations in Slc6a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03093:Slc6a13 APN 6 121,309,407 (GRCm39) missense probably damaging 1.00
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 2013-06-21