Incidental Mutation 'IGL02015:Slc6a3'
ID 183692
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 # IGL02015
Quality Score
Status
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73692833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 151 (Y151F)
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
AlphaFold Q61327
Predicted Effect possibly damaging
Transcript: ENSMUST00000022100
AA Change: Y151F

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: Y151F

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,420,098 (GRCm39) probably null Het
C1qtnf12 A G 4: 156,047,201 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
D430041D05Rik A G 2: 104,060,749 (GRCm39) Y1382H probably damaging Het
Fut1 A T 7: 45,268,399 (GRCm39) M118L probably damaging Het
Fzd5 A T 1: 64,775,501 (GRCm39) C87S probably damaging Het
Gmcl1 A G 6: 86,684,439 (GRCm39) V361A possibly damaging Het
Inpp4a T G 1: 37,428,793 (GRCm39) F700V probably damaging Het
Klk1b21 A T 7: 43,753,782 (GRCm39) Q22L probably benign Het
Lrp2 T A 2: 69,357,922 (GRCm39) Q369L probably benign Het
Mtor C T 4: 148,624,570 (GRCm39) Q2117* probably null Het
Naip2 A T 13: 100,298,115 (GRCm39) S640R possibly damaging Het
Nt5e T C 9: 88,249,290 (GRCm39) I408T probably damaging Het
Or10ab5 T A 7: 108,245,220 (GRCm39) N188Y probably damaging Het
Or51h5 G A 7: 102,577,399 (GRCm39) R188H probably benign Het
Or8d2 T C 9: 38,760,090 (GRCm39) S227P probably damaging Het
Plxna1 A G 6: 89,319,433 (GRCm39) L590P probably damaging Het
Ppp1r35 T C 5: 137,778,293 (GRCm39) probably benign Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Ptprg A T 14: 12,237,782 (GRCm38) N1413I possibly damaging Het
Ranbp10 C A 8: 106,506,622 (GRCm39) G233C probably damaging Het
Rapgef2 A G 3: 78,999,371 (GRCm39) probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Scaf4 T C 16: 90,055,734 (GRCm39) S108G unknown Het
Scn10a C T 9: 119,494,017 (GRCm39) V430M probably benign Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Skint2 C T 4: 112,481,325 (GRCm39) R63* probably null Het
Slc35b4 A T 6: 34,147,483 (GRCm39) V35D probably damaging Het
Susd1 G A 4: 59,315,745 (GRCm39) T689I possibly damaging Het
Tbx21 T C 11: 96,989,740 (GRCm39) D484G probably benign Het
Tln2 C T 9: 67,268,721 (GRCm39) probably benign Het
Traf3 A G 12: 111,219,174 (GRCm39) N242S probably benign Het
Tut7 A G 13: 59,937,072 (GRCm39) Y790H probably damaging Het
Xiap T A X: 41,185,487 (GRCm39) probably benign 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
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
IGL03294:Slc6a3 APN 13 73,705,300 (GRCm39) critical splice donor site probably null
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 2014-05-07