Incidental Mutation 'IGL01969:Slc6a13'
ID 181607
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 # IGL01969
Quality Score
Status
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121312601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 445 (L445P)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580]
AlphaFold P31649
Predicted Effect probably damaging
Transcript: ENSMUST00000064580
AA Change: L445P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: L445P

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
Afg3l1 C A 8: 124,207,170 (GRCm39) P74H probably damaging Het
Aire T A 10: 77,878,816 (GRCm39) D77V probably damaging Het
Ank2 T A 3: 126,746,872 (GRCm39) H571L possibly damaging Het
Apol10b T C 15: 77,472,885 (GRCm39) probably null Het
Cacna2d2 A T 9: 107,386,415 (GRCm39) M181L probably benign Het
Ccnl1 T C 3: 65,855,908 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,138 (GRCm39) E1961G possibly damaging Het
Dnajc12 C A 10: 63,231,609 (GRCm39) H42N probably damaging Het
Eml4 T C 17: 83,753,409 (GRCm39) V248A possibly damaging Het
Epha10 A C 4: 124,779,670 (GRCm39) K172T probably damaging Het
Fat1 T C 8: 45,405,636 (GRCm39) Y796H probably damaging Het
Gpr176 A C 2: 118,110,118 (GRCm39) F380L probably damaging Het
Guca1a A T 17: 47,711,268 (GRCm39) M26K probably damaging Het
Gucy2g T G 19: 55,215,870 (GRCm39) M501L probably benign Het
Herc2 T C 7: 55,835,579 (GRCm39) probably benign Het
Itgav A G 2: 83,633,627 (GRCm39) E1028G probably damaging Het
Itpr1 A G 6: 108,354,652 (GRCm39) T179A probably damaging Het
Lpin2 A G 17: 71,538,502 (GRCm39) T383A probably benign Het
Midn A G 10: 79,991,093 (GRCm39) T325A probably benign Het
Mpdz A G 4: 81,276,961 (GRCm39) Y788H probably damaging Het
Muc1 A T 3: 89,139,313 (GRCm39) D571V probably damaging Het
Myo3a A T 2: 22,302,499 (GRCm39) H316L probably benign Het
Nagpa T C 16: 5,013,753 (GRCm39) K362E probably benign Het
Ola1 G A 2: 72,930,490 (GRCm39) A266V probably benign Het
Or1e33 T C 11: 73,738,435 (GRCm39) N172S possibly damaging Het
Or4a47 A G 2: 89,666,064 (GRCm39) I75T probably benign Het
Or5b97 C A 19: 12,878,416 (GRCm39) A243S possibly damaging Het
Otof A G 5: 30,539,827 (GRCm39) probably benign Het
Pi4ka A C 16: 17,196,347 (GRCm39) V105G probably benign Het
Plppr4 G T 3: 117,122,008 (GRCm39) T190K probably damaging Het
Pnpla3 G A 15: 84,063,425 (GRCm39) A268T probably benign Het
Ppp6r2 C T 15: 89,159,713 (GRCm39) H467Y probably damaging Het
Prkd2 C T 7: 16,599,682 (GRCm39) T715M probably damaging Het
Rusc2 A G 4: 43,415,738 (GRCm39) N348S probably benign Het
Ska3 A G 14: 58,049,119 (GRCm39) V284A probably benign Het
Slc23a1 A T 18: 35,757,807 (GRCm39) V199D possibly damaging Het
Smo A T 6: 29,755,171 (GRCm39) probably null Het
Tmem131 A G 1: 36,864,541 (GRCm39) L564S possibly damaging Het
Ttc23l G A 15: 10,551,520 (GRCm39) Q69* probably null 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
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