Incidental Mutation 'R8457:Slc6a13'
ID 655063
Institutional Source Beutler Lab
Gene Symbol Slc6a13
Ensembl Gene ENSMUSG00000030108
Gene Name solute carrier family 6 (neurotransmitter transporter, GABA), member 13
Synonyms Gabt3, Gat2
MMRRC Submission 067834-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R8457 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 121303063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580] [ENSMUST00000064580] [ENSMUST00000064580] [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 probably null
Transcript: ENSMUST00000064580
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000064580
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000064580
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142419
SMART Domains Protein: ENSMUSP00000120689
Gene: ENSMUSG00000030108

DomainStartEndE-ValueType
Pfam:SNF 43 192 4e-78 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,030,939 (GRCm39) L813Q probably damaging Het
Alpk3 A G 7: 80,743,066 (GRCm39) N961S probably damaging Het
Arhgap42 A T 9: 9,016,221 (GRCm39) S403T probably benign Het
Cdkl1 T C 12: 69,794,112 (GRCm39) T342A probably benign Het
Chd2 T C 7: 73,096,985 (GRCm39) E1497G probably damaging Het
Cldn11 T C 3: 31,217,342 (GRCm39) V170A probably benign Het
Cps1 T A 1: 67,196,013 (GRCm39) F291I probably damaging Het
Cpsf2 T A 12: 101,968,929 (GRCm39) S722T probably damaging Het
Creld1 T C 6: 113,468,699 (GRCm39) probably null Het
Dgki T A 6: 36,827,891 (GRCm39) E1002V possibly damaging Het
Disp3 T A 4: 148,345,572 (GRCm39) I423F possibly damaging Het
Dysf T C 6: 84,165,227 (GRCm39) V1601A probably benign Het
E4f1 G A 17: 24,665,501 (GRCm39) A347V probably benign Het
Epb41l1 G A 2: 156,367,171 (GRCm39) R680Q probably benign Het
Fcrl5 T G 3: 87,351,567 (GRCm39) S272A probably damaging Het
Gbp7 A T 3: 142,252,133 (GRCm39) D572V probably benign Het
Gm21903 A T 17: 39,354,211 (GRCm39) F8I unknown Het
Grin2b A G 6: 135,709,197 (GRCm39) S1450P probably benign Het
Icos C A 1: 61,033,015 (GRCm39) S71R probably damaging Het
Ighv1-13 T A 12: 114,594,452 (GRCm39) N51K unknown Het
Ighv1-37 C T 12: 114,860,245 (GRCm39) probably benign Het
Il36g A G 2: 24,078,661 (GRCm39) Y87C probably benign Het
Irf7 T C 7: 140,843,194 (GRCm39) N440D possibly damaging Het
Ivns1abp T A 1: 151,229,761 (GRCm39) L150M probably damaging Het
Kif16b A G 2: 142,553,828 (GRCm39) I990T probably damaging Het
Kif23 A G 9: 61,834,317 (GRCm39) probably null Het
Lca5l T G 16: 95,960,908 (GRCm39) K523T possibly damaging Het
Mast3 A G 8: 71,233,085 (GRCm39) F1076L probably benign Het
Nek11 A T 9: 105,225,191 (GRCm39) I107N probably damaging Het
Nlrp12 T C 7: 3,289,435 (GRCm39) H359R probably damaging Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Or10q12 A T 19: 13,745,721 (GRCm39) N5I probably benign Het
Or8g36 A C 9: 39,422,442 (GRCm39) N191K probably benign Het
Rnf10 C A 5: 115,410,320 (GRCm39) K51N possibly damaging Het
Scap G A 9: 110,210,354 (GRCm39) G921D probably benign Het
Tk2 A T 8: 104,963,450 (GRCm39) S140T probably damaging Het
Tmem106b A G 6: 13,084,243 (GRCm39) Y249C probably damaging Het
Ttll5 T A 12: 85,923,352 (GRCm39) S276R probably damaging Het
Ugt1a7c T C 1: 88,023,078 (GRCm39) V79A probably benign Het
Zfp410 T C 12: 84,374,086 (GRCm39) V141A possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCTTGGAGACATGAAGCTG -3'
(R):5'- ACCACCACAGATGCATTGGG -3'

Sequencing Primer
(F):5'- TGAACAGCTGCGAGGCC -3'
(R):5'- GATCCGGGATACTCCATATAGCTC -3'
Posted On 2020-10-20