Incidental Mutation 'IGL02696:Slc6a12'
ID 303938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a12
Ensembl Gene ENSMUSG00000030109
Gene Name solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
Synonyms Gabt2, BGT1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02696
Quality Score
Status
Chromosome 6
Chromosomal Location 121320035-121342734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121340211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 485 (V485L)
Ref Sequence ENSEMBL: ENSMUSP00000126708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032200] [ENSMUST00000163771] [ENSMUST00000165456] [ENSMUST00000166457] [ENSMUST00000171008]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032200
AA Change: V499L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: V499L

DomainStartEndE-ValueType
Pfam:SNF 50 575 2e-242 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163771
SMART Domains Protein: ENSMUSP00000127779
Gene: ENSMUSG00000030109

DomainStartEndE-ValueType
Pfam:SNF 1 128 3.2e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165456
SMART Domains Protein: ENSMUSP00000130715
Gene: ENSMUSG00000030109

DomainStartEndE-ValueType
Pfam:SNF 1 49 3.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166457
AA Change: V485L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: V485L

DomainStartEndE-ValueType
Pfam:SNF 36 561 2.5e-242 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170582
Predicted Effect probably benign
Transcript: ENSMUST00000171008
AA Change: V485L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: V485L

DomainStartEndE-ValueType
Pfam:SNF 36 518 1.5e-227 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171874
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit normal seizure threshold. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in Slc6a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Slc6a12 APN 6 121,337,414 (GRCm39) missense probably damaging 1.00
IGL02066:Slc6a12 APN 6 121,329,015 (GRCm39) missense probably damaging 0.97
IGL02146:Slc6a12 APN 6 121,330,460 (GRCm39) missense probably benign 0.01
IGL02475:Slc6a12 APN 6 121,331,334 (GRCm39) splice site probably null
IGL02498:Slc6a12 APN 6 121,338,029 (GRCm39) missense probably benign
IGL02537:Slc6a12 APN 6 121,337,473 (GRCm39) missense probably benign 0.00
IGL03255:Slc6a12 APN 6 121,331,246 (GRCm39) missense probably damaging 0.99
IGL03397:Slc6a12 APN 6 121,334,004 (GRCm39) missense probably damaging 1.00
R0050:Slc6a12 UTSW 6 121,337,378 (GRCm39) splice site probably benign
R0050:Slc6a12 UTSW 6 121,337,378 (GRCm39) splice site probably benign
R0201:Slc6a12 UTSW 6 121,332,331 (GRCm39) missense probably benign 0.03
R0255:Slc6a12 UTSW 6 121,333,877 (GRCm39) missense probably damaging 1.00
R0302:Slc6a12 UTSW 6 121,340,218 (GRCm39) missense probably damaging 1.00
R0317:Slc6a12 UTSW 6 121,335,584 (GRCm39) missense possibly damaging 0.80
R0394:Slc6a12 UTSW 6 121,323,957 (GRCm39) critical splice donor site probably null
R0492:Slc6a12 UTSW 6 121,332,331 (GRCm39) missense probably benign 0.03
R0532:Slc6a12 UTSW 6 121,333,877 (GRCm39) missense probably damaging 1.00
R0550:Slc6a12 UTSW 6 121,333,877 (GRCm39) missense probably damaging 1.00
R0551:Slc6a12 UTSW 6 121,333,877 (GRCm39) missense probably damaging 1.00
R1421:Slc6a12 UTSW 6 121,336,085 (GRCm39) missense probably damaging 1.00
R1487:Slc6a12 UTSW 6 121,340,716 (GRCm39) nonsense probably null
R1879:Slc6a12 UTSW 6 121,324,382 (GRCm39) missense probably damaging 1.00
R1905:Slc6a12 UTSW 6 121,324,402 (GRCm39) nonsense probably null
R1925:Slc6a12 UTSW 6 121,337,485 (GRCm39) missense probably benign 0.44
R3944:Slc6a12 UTSW 6 121,331,239 (GRCm39) critical splice acceptor site probably null
R4515:Slc6a12 UTSW 6 121,330,489 (GRCm39) critical splice donor site probably null
R4559:Slc6a12 UTSW 6 121,340,820 (GRCm39) splice site probably null
R4628:Slc6a12 UTSW 6 121,328,951 (GRCm39) nonsense probably null
R4665:Slc6a12 UTSW 6 121,335,972 (GRCm39) splice site probably benign
R4753:Slc6a12 UTSW 6 121,333,862 (GRCm39) splice site probably benign
R4948:Slc6a12 UTSW 6 121,332,281 (GRCm39) missense probably benign 0.35
R5517:Slc6a12 UTSW 6 121,331,298 (GRCm39) missense probably benign 0.10
R6717:Slc6a12 UTSW 6 121,331,262 (GRCm39) missense probably benign 0.01
R7139:Slc6a12 UTSW 6 121,342,278 (GRCm39) missense probably benign
R7318:Slc6a12 UTSW 6 121,328,978 (GRCm39) missense probably benign 0.26
R7318:Slc6a12 UTSW 6 121,328,972 (GRCm39) missense probably damaging 0.99
R8310:Slc6a12 UTSW 6 121,340,250 (GRCm39) missense probably damaging 1.00
R8703:Slc6a12 UTSW 6 121,324,447 (GRCm39) missense probably benign
R9218:Slc6a12 UTSW 6 121,335,623 (GRCm39) missense probably damaging 1.00
R9648:Slc6a12 UTSW 6 121,335,661 (GRCm39) nonsense probably null
R9682:Slc6a12 UTSW 6 121,340,704 (GRCm39) missense probably benign
Z1176:Slc6a12 UTSW 6 121,340,786 (GRCm39) missense probably benign
Z1177:Slc6a12 UTSW 6 121,342,231 (GRCm39) missense probably benign 0.02
Z1177:Slc6a12 UTSW 6 121,333,926 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16