Incidental Mutation 'IGL03384:Slc6a13'
ID 420811
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 # IGL03384
Quality Score
Status
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121309350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 287 (F287S)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580]
AlphaFold P31649
Predicted Effect probably damaging
Transcript: ENSMUST00000064580
AA Change: F287S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: F287S

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,086,673 (GRCm39) I246T possibly damaging Het
Ablim2 C T 5: 36,032,216 (GRCm39) R614C probably damaging Het
B4galt7 T C 13: 55,757,102 (GRCm39) L265P probably damaging Het
Col4a4 C T 1: 82,462,159 (GRCm39) C1072Y probably benign Het
Cxcr2 T C 1: 74,197,950 (GRCm39) V148A probably damaging Het
Dnah14 G A 1: 181,573,514 (GRCm39) V2942M probably benign Het
Fam124b T A 1: 80,177,673 (GRCm39) H442L probably benign Het
Haus6 T C 4: 86,501,762 (GRCm39) H703R probably benign Het
Ice1 T C 13: 70,751,368 (GRCm39) T1573A probably benign Het
Iftap G T 2: 101,415,608 (GRCm39) T115N probably benign Het
Ighv1-31 A G 12: 114,793,093 (GRCm39) F48L probably benign Het
Iws1 C A 18: 32,226,203 (GRCm39) A697D probably damaging Het
Jhy T A 9: 40,872,228 (GRCm39) N94Y probably benign Het
Kank2 C T 9: 21,685,874 (GRCm39) V667M possibly damaging Het
Mcam G A 9: 44,051,809 (GRCm39) probably benign Het
Muc5ac A T 7: 141,366,140 (GRCm39) I2099F possibly damaging Het
Myo7a T C 7: 97,742,800 (GRCm39) I410V probably damaging Het
Nub1 A T 5: 24,902,425 (GRCm39) probably benign Het
Nub1 A T 5: 24,902,424 (GRCm39) probably null Het
Or10g9b T C 9: 39,917,766 (GRCm39) T160A probably benign Het
Panx2 C T 15: 88,952,322 (GRCm39) A271V possibly damaging Het
Papss1 T A 3: 131,285,113 (GRCm39) H13Q probably damaging Het
Pkd1 A G 17: 24,784,871 (GRCm39) T438A probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Ptchd4 T A 17: 42,813,481 (GRCm39) C461S probably damaging Het
Rapgef2 A G 3: 78,990,853 (GRCm39) F985S probably damaging Het
Rbm25 T C 12: 83,706,297 (GRCm39) I214T probably benign Het
Sgpp1 T C 12: 75,762,880 (GRCm39) probably benign Het
Slc22a20 A T 19: 6,030,402 (GRCm39) C343* probably null Het
Slc22a22 T C 15: 57,117,612 (GRCm39) I310V probably benign Het
Usp30 A G 5: 114,259,635 (GRCm39) D447G probably damaging Het
Vmn1r78 A T 7: 11,887,136 (GRCm39) Y249F possibly damaging Het
Vmn2r106 T C 17: 20,488,405 (GRCm39) T665A probably damaging Het
Vps37b A G 5: 124,145,670 (GRCm39) probably null Het
Wfdc1 T A 8: 120,413,016 (GRCm39) N198K 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
IGL03093:Slc6a13 APN 6 121,309,407 (GRCm39) missense probably damaging 1.00
IGL03358:Slc6a13 APN 6 121,311,495 (GRCm39) missense probably benign
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