Incidental Mutation 'IGL03345:Slc6a3'
ID 417409
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 # IGL03345
Quality Score
Status
Chromosome 13
Chromosomal Location 73684866-73726791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73719633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 554 (D554G)
Ref Sequence ENSEMBL: ENSMUSP00000022100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022100]
AlphaFold Q61327
Predicted Effect probably benign
Transcript: ENSMUST00000022100
AA Change: D554G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: D554G

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,250,163 (GRCm39) W987R probably damaging Het
Adcy5 T C 16: 35,069,184 (GRCm39) V384A probably benign Het
Akap12 T C 10: 4,306,697 (GRCm39) V1169A probably benign Het
Atp8a2 T C 14: 60,011,460 (GRCm39) T950A probably benign Het
Avil T C 10: 126,844,826 (GRCm39) probably benign Het
Bccip A G 7: 133,311,220 (GRCm39) D45G probably benign Het
Bcl9 A G 3: 97,116,508 (GRCm39) S729P probably benign Het
C3 T A 17: 57,526,585 (GRCm39) I799F probably damaging Het
Cstf2 C T X: 132,961,794 (GRCm39) R80C probably damaging Het
Degs1l A T 1: 180,882,937 (GRCm39) H233L probably benign Het
Dock7 A G 4: 98,873,056 (GRCm39) F1130S possibly damaging Het
Elapor1 A G 3: 108,399,332 (GRCm39) V86A possibly damaging Het
Fat2 C T 11: 55,173,187 (GRCm39) D2509N probably damaging Het
Fut10 T C 8: 31,750,069 (GRCm39) S452P probably damaging Het
Gabrb1 T A 5: 72,293,908 (GRCm39) M394K possibly damaging Het
Gkn3 T A 6: 87,365,798 (GRCm39) E7V probably null Het
Gpld1 G A 13: 25,171,007 (GRCm39) G803R probably damaging Het
Hipk2 A G 6: 38,724,937 (GRCm39) probably benign Het
Kcnu1 A T 8: 26,371,321 (GRCm39) probably benign Het
Kidins220 A T 12: 25,053,044 (GRCm39) S445C probably damaging Het
Ltbp1 A G 17: 75,373,154 (GRCm39) K266E probably damaging Het
Myh4 A T 11: 67,146,304 (GRCm39) D1454V probably damaging Het
Nrf1 A C 6: 30,089,947 (GRCm39) T9P probably damaging Het
Nt5dc1 T C 10: 34,200,458 (GRCm39) E187G probably benign Het
Obscn T A 11: 58,886,308 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,558,142 (GRCm39) Y274H probably damaging Het
Rgs8 A G 1: 153,568,556 (GRCm39) K149R probably benign Het
Rinl A G 7: 28,496,222 (GRCm39) E401G possibly damaging Het
Rsbn1 A G 3: 103,822,466 (GRCm39) R234G possibly damaging Het
Slc7a2 A G 8: 41,369,530 (GRCm39) S646G probably benign Het
Syt5 A G 7: 4,545,206 (GRCm39) V231A probably benign Het
Timeless T G 10: 128,083,455 (GRCm39) S695A probably benign Het
Tmem131l G A 3: 83,868,896 (GRCm39) P160S probably damaging Het
Tspear C A 10: 77,710,716 (GRCm39) probably null Het
Ubn1 T A 16: 4,899,828 (GRCm39) H1113Q probably damaging Het
Vmn2r49 T G 7: 9,718,621 (GRCm39) K481T probably damaging Het
Xdh T C 17: 74,213,027 (GRCm39) N872S probably damaging 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
IGL03294:Slc6a3 APN 13 73,705,300 (GRCm39) critical splice donor site probably null
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