Incidental Mutation 'IGL02546:Slc6a13'
ID 297811
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 # IGL02546
Quality Score
Status
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121310323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 327 (M327I)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580]
AlphaFold P31649
Predicted Effect probably benign
Transcript: ENSMUST00000064580
AA Change: M327I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: M327I

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G T 12: 52,927,521 (GRCm39) V144L probably damaging Het
Carmil1 A T 13: 24,299,482 (GRCm39) N347K probably damaging Het
Cyp4a32 A G 4: 115,468,520 (GRCm39) Y334C probably damaging Het
Dmxl2 C A 9: 54,273,698 (GRCm39) probably benign Het
Eps8 C T 6: 137,456,064 (GRCm39) A806T probably benign Het
Evl A G 12: 108,614,678 (GRCm39) N24S possibly damaging Het
Fbxo15 T C 18: 84,980,847 (GRCm39) probably null Het
Gm14179 A T 11: 99,634,019 (GRCm39) Het
Hepacam2 A G 6: 3,483,568 (GRCm39) V147A possibly damaging Het
Jmjd1c C A 10: 67,061,115 (GRCm39) P1156Q possibly damaging Het
Mab21l3 A T 3: 101,730,624 (GRCm39) V205E probably damaging Het
Mad2l1 T C 6: 66,512,951 (GRCm39) I28T probably damaging Het
Minar2 T A 18: 59,205,347 (GRCm39) M45K probably damaging Het
Mroh9 T A 1: 162,908,145 (GRCm39) I2F probably benign Het
Msr1 A T 8: 40,068,788 (GRCm39) I302K probably benign Het
Msrb3 C T 10: 120,685,906 (GRCm39) V80I possibly damaging Het
Ncf4 A G 15: 78,145,219 (GRCm39) D269G probably damaging Het
Nsl1 T A 1: 190,803,398 (GRCm39) H156Q probably benign Het
Nutm1 T C 2: 112,078,669 (GRCm39) D1082G probably benign Het
Or6c216 T A 10: 129,678,416 (GRCm39) D165V probably damaging Het
Or7g20 T A 9: 18,946,650 (GRCm39) V77D possibly damaging Het
Orc4 T C 2: 48,807,296 (GRCm39) I212V probably null Het
Pde6c A G 19: 38,128,488 (GRCm39) I184V probably benign Het
Pfkfb3 A T 2: 11,493,589 (GRCm39) F129Y probably damaging Het
Ppp3cb T C 14: 20,551,622 (GRCm39) D493G probably benign Het
Psg29 A G 7: 16,942,707 (GRCm39) Y236C probably damaging Het
Pzp C T 6: 128,471,662 (GRCm39) probably benign Het
Semp2l2b A T 10: 21,942,826 (GRCm39) W385R probably damaging Het
Sgf29 T A 7: 126,271,025 (GRCm39) V180E probably damaging Het
Sh3bp4 A G 1: 89,071,266 (GRCm39) probably benign Het
Slc39a2 A T 14: 52,132,620 (GRCm39) T188S probably benign Het
Slitrk6 T A 14: 110,987,226 (GRCm39) H827L probably benign Het
Thumpd2 T G 17: 81,361,884 (GRCm39) K114T probably benign Het
Tnfrsf19 A T 14: 61,210,987 (GRCm39) C234S possibly damaging Het
Tns2 A G 15: 102,019,375 (GRCm39) D446G probably damaging Het
Tpm4 A G 8: 72,898,547 (GRCm39) E137G probably damaging Het
Ttn G A 2: 76,625,901 (GRCm39) R13307C probably damaging Het
Ubqln3 A G 7: 103,791,725 (GRCm39) S122P probably benign Het
Ubr5 T C 15: 38,008,991 (GRCm39) D1080G probably benign Het
Ulk4 A T 9: 120,981,373 (GRCm39) L886* probably null Het
Unc80 T C 1: 66,594,112 (GRCm39) S1164P possibly damaging Het
Uspl1 T C 5: 149,141,114 (GRCm39) V371A possibly damaging Het
Virma T C 4: 11,494,804 (GRCm39) V35A probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp787 A T 7: 6,135,297 (GRCm39) I318N probably damaging 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
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 2015-04-16