Incidental Mutation 'IGL03294:Slc6a3'
ID 416036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a3
Ensembl Gene ENSMUSG00000021609
Gene Name solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Synonyms DAT, Dat1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03294
Quality Score
Status
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 73705300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100] [ENSMUST00000022100] [ENSMUST00000022100]
AlphaFold Q61327
Predicted Effect probably null
Transcript: ENSMUST00000022100
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000022100
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000022100
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609

DomainStartEndE-ValueType
Pfam:SNF 60 582 8.1e-237 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit dwarfism, hyperactivity (especially in a novel environment), 5-fold higher extracellular dopamine levels, impaired spatial cognitive function, anterior pituitary hypoplasia, and failure to lactate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,047,315 (GRCm39) M119L probably benign Het
Akap10 A T 11: 61,768,179 (GRCm39) V646D probably damaging Het
Aldh3a1 A G 11: 61,105,548 (GRCm39) Y218C probably damaging Het
Arfgef3 T A 10: 18,540,660 (GRCm39) L174F probably damaging Het
Arhgef6 T C X: 56,382,338 (GRCm39) K99E possibly damaging Het
Atp9a T C 2: 168,531,225 (GRCm39) K163E probably benign Het
Birc6 C T 17: 74,956,881 (GRCm39) A3605V probably benign Het
C8b G A 4: 104,637,888 (GRCm39) R120Q probably benign Het
Ccr1l1 A C 9: 123,778,444 (GRCm39) M1R probably null Het
Clca3a2 A G 3: 144,803,530 (GRCm39) S105P probably damaging Het
Cntnap1 A G 11: 101,072,508 (GRCm39) T502A possibly damaging Het
Ddx10 C T 9: 53,028,452 (GRCm39) probably null Het
Dnah5 G A 15: 28,233,441 (GRCm39) probably null Het
Dock9 A T 14: 121,879,035 (GRCm39) probably benign Het
Gli2 A G 1: 118,765,166 (GRCm39) V995A probably benign Het
Gpr34 T C X: 13,505,788 (GRCm39) Y106H probably damaging Het
Kmt2a A T 9: 44,731,862 (GRCm39) probably benign Het
Lamc1 C A 1: 153,138,392 (GRCm39) R154L probably damaging Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Meioc A T 11: 102,571,495 (GRCm39) E943V probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Nav2 C T 7: 49,141,205 (GRCm39) R917* probably null Het
Or4f47 T C 2: 111,972,518 (GRCm39) I76T probably benign Het
Or7g32 T C 9: 19,389,285 (GRCm39) N87S possibly damaging Het
Pcsk9 T A 4: 106,303,967 (GRCm39) I506L probably benign Het
Phf14 T A 6: 11,953,366 (GRCm39) D368E probably damaging Het
Phka1 C A X: 101,580,819 (GRCm39) S964I probably damaging Het
Pikfyve G A 1: 65,286,226 (GRCm39) R1155Q probably damaging Het
Plin2 C T 4: 86,580,315 (GRCm39) V60M probably damaging Het
Ptpn9 A G 9: 56,934,671 (GRCm39) Q145R possibly damaging Het
Sap30 A G 8: 57,940,335 (GRCm39) I89T probably damaging Het
Sec61a2 T C 2: 5,881,276 (GRCm39) probably null Het
Slc34a2 A C 5: 53,221,340 (GRCm39) D262A probably benign Het
Slfn4 A T 11: 83,077,400 (GRCm39) T63S probably benign Het
Tbx10 A T 19: 4,048,571 (GRCm39) probably benign Het
Tie1 A T 4: 118,337,420 (GRCm39) N501K probably damaging Het
Tmprss11f A T 5: 86,685,966 (GRCm39) Y134N probably damaging Het
Uevld A T 7: 46,580,778 (GRCm39) D361E possibly damaging Het
Ugt1a5 A C 1: 88,094,537 (GRCm39) D255A probably damaging Het
Vmn2r11 A G 5: 109,201,935 (GRCm39) F190L probably benign Het
Wfs1 G A 5: 37,132,941 (GRCm39) R113C probably damaging Het
Yipf5 T G 18: 40,339,449 (GRCm39) M206L probably benign Het
Zbtb10 A G 3: 9,346,047 (GRCm39) D847G probably benign Het
Zfp786 T A 6: 47,798,258 (GRCm39) K227* probably null Het
Other mutations in Slc6a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc6a3 APN 13 73,692,860 (GRCm39) missense probably damaging 1.00
IGL01524:Slc6a3 APN 13 73,686,668 (GRCm39) missense probably benign 0.01
IGL02015:Slc6a3 APN 13 73,692,833 (GRCm39) missense possibly damaging 0.60
IGL03008:Slc6a3 APN 13 73,706,404 (GRCm39) critical splice donor site probably null
IGL03029:Slc6a3 APN 13 73,686,816 (GRCm39) missense probably damaging 1.00
IGL03064:Slc6a3 APN 13 73,719,585 (GRCm39) missense probably damaging 0.99
IGL03272:Slc6a3 APN 13 73,689,048 (GRCm39) missense probably damaging 0.98
IGL03345:Slc6a3 APN 13 73,719,633 (GRCm39) missense probably benign
IGL03410:Slc6a3 APN 13 73,686,776 (GRCm39) missense probably benign 0.03
disney UTSW 13 73,693,003 (GRCm39) missense probably benign
dopey UTSW 13 73,709,078 (GRCm39) missense probably damaging 1.00
Dopey2 UTSW 13 73,692,936 (GRCm39) missense probably damaging 1.00
Stiff UTSW 13 73,705,169 (GRCm39) missense possibly damaging 0.85
PIT4382001:Slc6a3 UTSW 13 73,719,642 (GRCm39) missense probably benign 0.35
R0024:Slc6a3 UTSW 13 73,688,956 (GRCm39) splice site probably benign
R0125:Slc6a3 UTSW 13 73,718,098 (GRCm39) splice site probably benign
R0180:Slc6a3 UTSW 13 73,710,455 (GRCm39) missense probably damaging 1.00
R0288:Slc6a3 UTSW 13 73,709,047 (GRCm39) missense probably damaging 1.00
R0322:Slc6a3 UTSW 13 73,709,045 (GRCm39) missense possibly damaging 0.61
R0349:Slc6a3 UTSW 13 73,715,676 (GRCm39) missense probably damaging 1.00
R0411:Slc6a3 UTSW 13 73,705,169 (GRCm39) missense possibly damaging 0.85
R0594:Slc6a3 UTSW 13 73,686,761 (GRCm39) missense probably damaging 0.99
R0680:Slc6a3 UTSW 13 73,686,846 (GRCm39) missense probably damaging 1.00
R1099:Slc6a3 UTSW 13 73,715,760 (GRCm39) missense probably benign 0.21
R1109:Slc6a3 UTSW 13 73,705,199 (GRCm39) missense probably benign 0.00
R1791:Slc6a3 UTSW 13 73,714,411 (GRCm39) missense possibly damaging 0.82
R3916:Slc6a3 UTSW 13 73,710,427 (GRCm39) missense probably benign 0.00
R4279:Slc6a3 UTSW 13 73,692,953 (GRCm39) missense possibly damaging 0.90
R4368:Slc6a3 UTSW 13 73,709,031 (GRCm39) nonsense probably null
R4520:Slc6a3 UTSW 13 73,688,975 (GRCm39) missense possibly damaging 0.95
R4666:Slc6a3 UTSW 13 73,686,700 (GRCm39) missense possibly damaging 0.47
R4675:Slc6a3 UTSW 13 73,692,936 (GRCm39) missense probably damaging 1.00
R4716:Slc6a3 UTSW 13 73,705,195 (GRCm39) missense probably benign 0.04
R5243:Slc6a3 UTSW 13 73,719,570 (GRCm39) missense possibly damaging 0.61
R5355:Slc6a3 UTSW 13 73,709,078 (GRCm39) missense probably damaging 1.00
R5681:Slc6a3 UTSW 13 73,686,854 (GRCm39) missense probably damaging 0.99
R5737:Slc6a3 UTSW 13 73,692,923 (GRCm39) missense probably damaging 0.99
R6142:Slc6a3 UTSW 13 73,692,902 (GRCm39) missense probably benign 0.00
R6471:Slc6a3 UTSW 13 73,693,003 (GRCm39) missense probably benign
R7168:Slc6a3 UTSW 13 73,719,591 (GRCm39) missense probably benign 0.00
R7403:Slc6a3 UTSW 13 73,710,546 (GRCm39) critical splice donor site probably null
R8282:Slc6a3 UTSW 13 73,705,200 (GRCm39) missense probably benign 0.01
R8359:Slc6a3 UTSW 13 73,693,002 (GRCm39) missense probably benign
R8446:Slc6a3 UTSW 13 73,719,674 (GRCm39) missense possibly damaging 0.67
R8979:Slc6a3 UTSW 13 73,715,720 (GRCm39) missense probably benign 0.20
R9051:Slc6a3 UTSW 13 73,718,031 (GRCm39) nonsense probably null
R9377:Slc6a3 UTSW 13 73,692,966 (GRCm39) missense probably benign 0.07
Posted On 2016-08-02