Incidental Mutation 'IGL01947:Slc6a13'
ID 181283
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 # IGL01947
Quality Score
Status
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 121302116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580] [ENSMUST00000142419]
AlphaFold P31649
Predicted Effect probably null
Transcript: ENSMUST00000064580
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

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 benign
Transcript: ENSMUST00000142419
SMART Domains Protein: ENSMUSP00000120689
Gene: ENSMUSG00000030108

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,428 (GRCm39) probably null Het
Aloxe3 T A 11: 69,033,847 (GRCm39) probably benign Het
Atic C T 1: 71,609,996 (GRCm39) probably benign Het
Avpr1a T C 10: 122,288,087 (GRCm39) V365A probably benign Het
Brd7 A G 8: 89,059,503 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,845,579 (GRCm39) N332D probably damaging Het
Cdh20 C T 1: 104,921,649 (GRCm39) P649S possibly damaging Het
Cgnl1 T C 9: 71,632,326 (GRCm39) T342A probably damaging Het
Chst10 A G 1: 38,904,646 (GRCm39) L349P probably damaging Het
Cox6b2 T A 7: 4,754,929 (GRCm39) K77* probably null Het
Crnkl1 G A 2: 145,763,744 (GRCm39) A498V probably benign Het
Cux1 A G 5: 136,303,979 (GRCm39) L1394P probably benign Het
Dapp1 T C 3: 137,641,404 (GRCm39) Y197C probably damaging Het
Dcc A G 18: 71,959,280 (GRCm39) I164T probably benign Het
Disp3 T A 4: 148,344,976 (GRCm39) I472F probably damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpd1 A G 15: 99,618,112 (GRCm39) I143V possibly damaging Het
Hmcn1 T A 1: 150,608,643 (GRCm39) N1513I possibly damaging Het
Jakmip2 T C 18: 43,680,159 (GRCm39) I733V probably benign Het
Klhl12 T A 1: 134,391,689 (GRCm39) L107H probably damaging Het
Lcn8 A G 2: 25,545,157 (GRCm39) D109G probably damaging Het
Maz A T 7: 126,623,614 (GRCm39) probably null Het
Mttp T A 3: 137,812,890 (GRCm39) D595V probably damaging Het
Mymk A C 2: 26,956,406 (GRCm39) L58R possibly damaging Het
Nckap1 A C 2: 80,339,097 (GRCm39) I977S probably damaging Het
Nckap1l A T 15: 103,399,442 (GRCm39) I1021F probably benign Het
Or12d2 A T 17: 37,624,556 (GRCm39) C240S probably damaging Het
Or4f14b A T 2: 111,775,339 (GRCm39) M154K probably benign Het
Or4f6 A T 2: 111,839,361 (GRCm39) S57T possibly damaging Het
Or6c38 G A 10: 128,929,747 (GRCm39) T32I possibly damaging Het
Pde5a T A 3: 122,629,259 (GRCm39) F644L probably damaging Het
Pdzd2 A G 15: 12,592,440 (GRCm39) I68T probably damaging Het
Pik3r4 T A 9: 105,563,349 (GRCm39) V1242D possibly damaging Het
Ppp6r2 G T 15: 89,162,929 (GRCm39) W517L probably damaging Het
Scrib A T 15: 75,933,616 (GRCm39) I703K probably benign Het
Serpina1b T C 12: 103,695,576 (GRCm39) S322G probably benign Het
Siglecg C A 7: 43,058,187 (GRCm39) Q25K probably benign Het
Slc12a3 G A 8: 95,092,447 (GRCm39) probably null Het
Stard13 A T 5: 150,986,309 (GRCm39) D282E probably damaging Het
Tpte A T 8: 22,845,489 (GRCm39) Y513F possibly damaging Het
Ubox5 T A 2: 130,442,579 (GRCm39) K36I possibly damaging Het
Other mutations in Slc6a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Slc6a13 APN 6 121,298,600 (GRCm39) missense probably damaging 1.00
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 2014-05-07