Incidental Mutation 'R7734:Slc6a13'
ID596048
Institutional Source Beutler Lab
Gene Symbol Slc6a13
Ensembl Gene ENSMUSG00000030108
Gene Namesolute carrier family 6 (neurotransmitter transporter, GABA), member 13
SynonymsGat2, Gabt3
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.268) question?
Stock #R7734 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location121300227-121337733 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121337375 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 590 (T590S)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580]
Predicted Effect probably benign
Transcript: ENSMUST00000064580
AA Change: T590S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: T590S

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T A 18: 12,189,263 I591N possibly damaging Het
Anxa2 T C 9: 69,491,482 Y333H probably benign Het
Arid1a A T 4: 133,681,368 F1558I unknown Het
Aste1 A G 9: 105,397,479 D306G probably damaging Het
Atp2a2 A G 5: 122,458,527 V843A possibly damaging Het
Atrip T A 9: 109,065,506 H451L probably benign Het
Cdc42bpb T C 12: 111,329,230 D200G probably damaging Het
Ceacam19 A C 7: 19,886,595 M37R probably benign Het
Cemip G A 7: 83,957,664 R782* probably null Het
Cpe A T 8: 64,617,620 I197N probably benign Het
Csmd2 C A 4: 128,552,057 P3307T Het
Cyp4a12b C A 4: 115,411,740 Q20K possibly damaging Het
Dcaf1 T C 9: 106,838,679 Y332H probably damaging Het
Dclk3 A G 9: 111,469,095 H569R probably damaging Het
Dcp1b A G 6: 119,215,283 S387G probably benign Het
Ddx24 A G 12: 103,417,560 M590T possibly damaging Het
Dixdc1 T G 9: 50,701,968 Q229P probably damaging Het
Dnase1l3 T C 14: 7,977,144 R181G probably benign Het
Dzip1l A T 9: 99,667,682 D735V probably damaging Het
Edem3 T C 1: 151,818,585 S890P probably benign Het
Fuom A G 7: 140,099,542 L155P unknown Het
Gm6408 C A 5: 146,484,350 S263* probably null Het
Helz C G 11: 107,685,422 S1814R unknown Het
Hrc T C 7: 45,336,676 L417P probably benign Het
Igdcc4 A C 9: 65,131,753 H894P probably damaging Het
Lgr6 C A 1: 135,003,243 V296L probably damaging Het
Map3k4 T A 17: 12,264,111 Y573F probably damaging Het
Mest T C 6: 30,746,300 Y296H unknown Het
Mettl21a C T 1: 64,608,129 V90M probably damaging Het
Mfsd4b1 A T 10: 40,007,378 N25K probably damaging Het
Mmd T A 11: 90,276,753 F203I probably damaging Het
Myo15 G A 11: 60,510,282 V3028M probably benign Het
Nlrp1a T A 11: 71,108,000 N859I unknown Het
Nrcam T C 12: 44,537,251 L36P possibly damaging Het
Nup107 C A 10: 117,758,012 E759* probably null Het
Olfr305 A G 7: 86,364,268 I23T not run Het
Pcdh7 T G 5: 57,719,634 I177S probably damaging Het
Pde6a T C 18: 61,232,866 I221T probably benign Het
Ptpn13 A T 5: 103,561,962 N1497I probably damaging Het
Rpl4 T A 9: 64,177,379 H245Q probably benign Het
Rsf1 C CCACGGCGGG 7: 97,579,908 probably benign Het
Scara5 A G 14: 65,731,151 D291G possibly damaging Het
Sept14 T A 5: 129,683,519 I422L probably benign Het
Serpina1e T C 12: 103,950,892 K173E probably benign Het
Slc5a1 C T 5: 33,160,935 T644I probably benign Het
Smarca4 C T 9: 21,667,362 T938I possibly damaging Het
Stxbp1 A T 2: 32,801,820 D453E probably benign Het
Tcf12 C A 9: 71,922,661 V173L probably benign Het
Tenm3 A G 8: 48,646,333 C146R probably damaging Het
Trim11 T C 11: 58,978,354 C39R probably damaging Het
Trim37 A G 11: 87,177,995 Y389C probably damaging Het
Ttll8 C T 15: 88,914,165 G789D probably damaging Het
Tubb2a C T 13: 34,074,793 S338N probably benign Het
Ulk2 G A 11: 61,853,301 Q50* probably null Het
Urgcp T C 11: 5,716,406 D687G probably benign Het
Usp13 C T 3: 32,837,905 H78Y probably benign Het
Vmn2r100 T A 17: 19,522,034 D223E probably benign Het
Vwc2 G A 11: 11,115,929 A6T possibly damaging Het
Other mutations in Slc6a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Slc6a13 APN 6 121321641 missense probably damaging 1.00
IGL01947:Slc6a13 APN 6 121325157 critical splice donor site probably null
IGL01969:Slc6a13 APN 6 121335642 missense probably damaging 1.00
IGL02546:Slc6a13 APN 6 121333364 missense probably benign
IGL02988:Slc6a13 APN 6 121326107 unclassified probably benign
IGL03093:Slc6a13 APN 6 121332448 missense probably damaging 1.00
IGL03358:Slc6a13 APN 6 121334536 missense probably benign
IGL03384:Slc6a13 APN 6 121332391 missense probably damaging 1.00
ANU74:Slc6a13 UTSW 6 121334876 missense probably benign 0.42
R0217:Slc6a13 UTSW 6 121324320 missense probably damaging 0.99
R0230:Slc6a13 UTSW 6 121324303 missense probably benign 0.03
R0744:Slc6a13 UTSW 6 121302867 missense probably damaging 1.00
R1546:Slc6a13 UTSW 6 121332374 missense possibly damaging 0.78
R1604:Slc6a13 UTSW 6 121332369 missense probably benign 0.02
R1654:Slc6a13 UTSW 6 121336926 missense probably benign
R1781:Slc6a13 UTSW 6 121334852 missense probably damaging 0.99
R1978:Slc6a13 UTSW 6 121332373 missense probably damaging 1.00
R2130:Slc6a13 UTSW 6 121325041 missense possibly damaging 0.77
R4570:Slc6a13 UTSW 6 121336142 critical splice donor site probably null
R4623:Slc6a13 UTSW 6 121325145 missense probably damaging 0.99
R4755:Slc6a13 UTSW 6 121325049 missense probably damaging 1.00
R5068:Slc6a13 UTSW 6 121333342 missense probably damaging 0.99
R5485:Slc6a13 UTSW 6 121336073 missense probably damaging 1.00
R5687:Slc6a13 UTSW 6 121302741 missense probably benign 0.00
R6045:Slc6a13 UTSW 6 121321628 missense probably damaging 1.00
R6235:Slc6a13 UTSW 6 121302794 missense probably benign 0.02
R6338:Slc6a13 UTSW 6 121334839 missense probably damaging 0.96
R6393:Slc6a13 UTSW 6 121336842 missense possibly damaging 0.83
R6844:Slc6a13 UTSW 6 121325053 missense probably damaging 0.99
R7379:Slc6a13 UTSW 6 121336839 nonsense probably null
R7800:Slc6a13 UTSW 6 121321699 missense probably damaging 0.98
R7862:Slc6a13 UTSW 6 121335630 missense probably damaging 1.00
R7935:Slc6a13 UTSW 6 121334491 missense possibly damaging 0.46
R8177:Slc6a13 UTSW 6 121325028 nonsense probably null
R8324:Slc6a13 UTSW 6 121337414 makesense probably null
R8457:Slc6a13 UTSW 6 121326104 splice site probably null
RF020:Slc6a13 UTSW 6 121324351 critical splice donor site probably null
Z1177:Slc6a13 UTSW 6 121334503 missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- ACTATGGGGTTGGCAACTGG -3'
(R):5'- TGTGTGGACCACCCTGGAATAG -3'

Sequencing Primer
(F):5'- TTGGCAACTGGAAGCAGACTATAG -3'
(R):5'- CATCAAGATAGGAGGTACCCAGTTC -3'
Posted On2019-11-12