Incidental Mutation 'R1654:Slc6a13'
ID 188924
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 039690-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R1654 (G1)
Quality Score 205
Status Not validated
Chromosome 6
Chromosomal Location 121277247-121314680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121313885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 543 (I543V)
Ref Sequence ENSEMBL: ENSMUSP00000066779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064580]
AlphaFold P31649
Predicted Effect probably benign
Transcript: ENSMUST00000064580
AA Change: I543V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: I543V

DomainStartEndE-ValueType
Pfam:SNF 32 556 6.2e-252 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142021
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik C T 11: 109,688,225 (GRCm39) S90N probably benign Het
Apc2 C T 10: 80,137,676 (GRCm39) T39I possibly damaging Het
Arfgef3 C T 10: 18,500,896 (GRCm39) R1118K probably null Het
Arhgef12 T C 9: 42,908,956 (GRCm39) D658G possibly damaging Het
Asph G T 4: 9,453,315 (GRCm39) R736S probably benign Het
Bcas1 C T 2: 170,191,166 (GRCm39) G542E probably damaging Het
Brd8 A T 18: 34,744,279 (GRCm39) V183E probably damaging Het
C1rl G A 6: 124,470,869 (GRCm39) G59E probably damaging Het
Cacna1i C A 15: 80,273,411 (GRCm39) A1699D probably damaging Het
Card6 G T 15: 5,128,214 (GRCm39) Q1061K probably benign Het
Cd163 G T 6: 124,294,540 (GRCm39) C566F probably damaging Het
Cd84 C T 1: 171,712,173 (GRCm39) T263I possibly damaging Het
Cep63 T C 9: 102,464,112 (GRCm39) I740V possibly damaging Het
Chaf1b C A 16: 93,691,791 (GRCm39) A279D probably damaging Het
Chsy3 A T 18: 59,309,488 (GRCm39) Y247F probably damaging Het
Cpxm1 G A 2: 130,235,466 (GRCm39) L509F possibly damaging Het
Disc1 A T 8: 125,875,204 (GRCm39) Q558L possibly damaging Het
Dnah3 A T 7: 119,525,672 (GRCm39) L3894Q probably damaging Het
Dnmt1 G T 9: 20,847,870 (GRCm39) T105N possibly damaging Het
Dock6 A T 9: 21,716,139 (GRCm39) L1732Q probably damaging Het
Dsc2 T C 18: 20,179,303 (GRCm39) N255S probably benign Het
Dsel A T 1: 111,790,242 (GRCm39) Y98N probably damaging Het
Enox1 T A 14: 77,848,814 (GRCm39) I375N possibly damaging Het
Epha4 T A 1: 77,351,405 (GRCm39) probably null Het
Fktn A G 4: 53,761,220 (GRCm39) I446V probably benign Het
Garin4 T C 1: 190,895,678 (GRCm39) R322G probably benign Het
Gm7361 G T 5: 26,466,097 (GRCm39) R153L probably damaging Het
Grin2c C T 11: 115,151,679 (GRCm39) V94I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Krt80 T C 15: 101,249,590 (GRCm39) K255E probably damaging Het
Lcn6 T A 2: 25,570,787 (GRCm39) probably null Het
Lonp2 T G 8: 87,358,078 (GRCm39) L100V probably damaging Het
Lyn G A 4: 3,789,912 (GRCm39) A482T probably damaging Het
Mapk4 A G 18: 74,064,010 (GRCm39) F404S probably damaging Het
Mast2 T C 4: 116,173,747 (GRCm39) probably null Het
Medag T C 5: 149,345,600 (GRCm39) Y94H probably damaging Het
Megf8 T C 7: 25,037,911 (GRCm39) L809P possibly damaging Het
Mgam T C 6: 40,734,421 (GRCm39) S743P probably damaging Het
Mia2 C A 12: 59,155,619 (GRCm39) T445K possibly damaging Het
Mtcl3 A T 10: 29,022,931 (GRCm39) probably null Het
Nars1 C G 18: 64,645,120 (GRCm39) A43P probably damaging Het
Nav3 T C 10: 109,688,984 (GRCm39) N431S possibly damaging Het
Ndufaf5 A G 2: 140,019,220 (GRCm39) probably null Het
Nlrp1b T G 11: 71,072,124 (GRCm39) E573A probably damaging Het
Nlrp3 T C 11: 59,433,949 (GRCm39) V4A probably benign Het
Or2y1d G A 11: 49,321,329 (GRCm39) G9R probably benign Het
Or56b2 A T 7: 104,337,420 (GRCm39) Y66F probably benign Het
Or5ac15 T C 16: 58,940,052 (GRCm39) N127S possibly damaging Het
Pcdhb12 A T 18: 37,569,754 (GRCm39) D300V probably damaging Het
Pik3c2a A T 7: 115,968,083 (GRCm39) C804S probably benign Het
Pkp4 A T 2: 59,167,963 (GRCm39) Q725L probably damaging Het
Ptpre T A 7: 135,255,657 (GRCm39) S119T probably benign Het
Ptprk G A 10: 28,259,643 (GRCm39) R361H probably damaging Het
Ptprr T C 10: 116,024,268 (GRCm39) V193A probably benign Het
Rfx2 C T 17: 57,115,263 (GRCm39) A19T probably benign Het
Rgs4 T A 1: 169,572,880 (GRCm39) M19L probably benign Het
Rnf157 T C 11: 116,249,541 (GRCm39) H225R probably damaging Het
Rnf44 A T 13: 54,829,592 (GRCm39) D341E possibly damaging Het
Sct T A 7: 140,858,767 (GRCm39) Q55L probably damaging Het
Sh3rf1 A T 8: 61,814,779 (GRCm39) H446L possibly damaging Het
Shisa3 A T 5: 67,768,402 (GRCm39) I101F probably damaging Het
Spef2 G A 15: 9,634,738 (GRCm39) A1024V probably damaging Het
St6galnac6 T C 2: 32,509,521 (GRCm39) S330P probably damaging Het
Stard9 G T 2: 120,534,203 (GRCm39) A3487S probably benign Het
Suclg2 T C 6: 95,632,532 (GRCm39) S46G probably damaging Het
Syne2 T C 12: 76,147,868 (GRCm39) V6469A possibly damaging Het
Tada2b C T 5: 36,641,139 (GRCm39) G88D probably damaging Het
Tll1 A T 8: 64,570,937 (GRCm39) probably null Het
Tph2 T A 10: 115,020,712 (GRCm39) H28L probably benign Het
Trmt6 C A 2: 132,657,755 (GRCm39) V34L possibly damaging Het
Ttc22 A G 4: 106,491,408 (GRCm39) T204A probably damaging Het
Umodl1 A T 17: 31,206,942 (GRCm39) M778L probably benign Het
Vcan T C 13: 89,810,065 (GRCm39) H2282R probably damaging Het
Vmn2r77 T A 7: 86,461,123 (GRCm39) S816R probably damaging Het
Vps13c T A 9: 67,858,969 (GRCm39) F2806L probably damaging Het
Zbtb4 C A 11: 69,669,995 (GRCm39) A906D probably damaging Het
Zscan29 A G 2: 120,995,260 (GRCm39) V421A 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
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
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
Predicted Primers PCR Primer
(F):5'- GCGACTGACTGACCTAGATAAGCAC -3'
(R):5'- AGACTCCCAAGTACACGTCCTCTG -3'

Sequencing Primer
(F):5'- GACTGACCTAGATAAGCACCTTGG -3'
(R):5'- AAGTACACGTCCTCTGGATTTCTG -3'
Posted On 2014-05-09