Incidental Mutation 'R6844:Slc6a13'
ID 534668
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 044950-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R6844 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121302012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 198 (I198N)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580] [ENSMUST00000142419]
AlphaFold P31649
Predicted Effect probably damaging
Transcript: ENSMUST00000064580
AA Change: I198N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: I198N

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: 99.5%
  • 20x: 98.2%
Validation Efficiency 92% (36/39)
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
Arhgap18 G A 10: 26,648,682 (GRCm39) A35T probably benign Het
Arhgap21 A G 2: 20,886,116 (GRCm39) S354P probably benign Het
Casq2 A T 3: 102,017,578 (GRCm39) H86L possibly damaging Het
Ccdc188 G A 16: 18,036,074 (GRCm39) G83E probably damaging Het
Cd22 G T 7: 30,572,856 (GRCm39) probably null Het
Cyp2b13 T A 7: 25,781,122 (GRCm39) I178N probably damaging Het
Cyp4a31 T A 4: 115,420,989 (GRCm39) C26S probably null Het
Eif3h T C 15: 51,728,729 (GRCm39) D42G possibly damaging Het
Elovl4 T A 9: 83,672,164 (GRCm39) I52L probably benign Het
Fgfbp3 C A 19: 36,896,280 (GRCm39) A113S possibly damaging Het
Fsip2 A T 2: 82,813,969 (GRCm39) K3429N possibly damaging Het
Gemin5 T C 11: 58,054,730 (GRCm39) D224G probably benign Het
Gm3415 T C 5: 146,494,811 (GRCm39) I158T probably benign Het
Gpr22 C A 12: 31,759,951 (GRCm39) R20L probably benign Het
Htr1a A G 13: 105,581,455 (GRCm39) K232E possibly damaging Het
Itgax T A 7: 127,747,106 (GRCm39) probably null Het
Jag2 T C 12: 112,880,334 (GRCm39) Y310C probably damaging Het
Lce1j A G 3: 92,696,656 (GRCm39) S41P unknown Het
Mllt10 A G 2: 18,164,294 (GRCm39) I197V probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mybpc1 T A 10: 88,372,243 (GRCm39) I796F possibly damaging Het
Nr2c1 T A 10: 94,007,029 (GRCm39) L289* probably null Het
Omp T A 7: 97,794,283 (GRCm39) M115L probably benign Het
Pdcd1 C T 1: 93,967,106 (GRCm39) R264H probably benign Het
Plxna2 T C 1: 194,476,136 (GRCm39) F1119L probably benign Het
Ralyl A G 3: 13,841,938 (GRCm39) T25A probably damaging Het
Rapgef4 A G 2: 72,064,970 (GRCm39) T656A probably damaging Het
Ripor3 C T 2: 167,835,253 (GRCm39) probably null Het
Samd8 T C 14: 21,825,205 (GRCm39) S54P probably damaging Het
Serpinb9g A T 13: 33,670,616 (GRCm39) I35F probably damaging Het
Shisa8 T C 15: 82,096,310 (GRCm39) S102G probably damaging Het
Slc4a1ap T A 5: 31,684,822 (GRCm39) S153T probably damaging Het
Slc4a4 T A 5: 89,376,831 (GRCm39) D1028E probably damaging Het
Sst C T 16: 23,708,592 (GRCm39) D80N probably benign Het
Synj2 A G 17: 6,026,081 (GRCm39) K47E probably damaging Het
Tal1 C T 4: 114,920,464 (GRCm39) P46L probably benign Het
Top2b A T 14: 16,429,383 (GRCm38) N1541I possibly damaging Het
Vps13b T A 15: 35,877,736 (GRCm39) N2903K probably benign Het
Zfp949 A G 9: 88,451,464 (GRCm39) T345A possibly damaging Het
Zmat3 A G 3: 32,395,644 (GRCm39) Y288H 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
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
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
Predicted Primers PCR Primer
(F):5'- AACGTTCATAGCCCTGGGTTC -3'
(R):5'- CATTCAGGAAGGAAGCCACATG -3'

Sequencing Primer
(F):5'- CTGGGTTCTAACCCTTACAC -3'
(R):5'- TGCCTGGACCAGCCTAAAG -3'
Posted On 2018-09-12