Incidental Mutation 'IGL03345:Slc6a3'
ID417409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a3
Ensembl Gene ENSMUSG00000021609
Gene Namesolute carrier family 6 (neurotransmitter transporter, dopamine), member 3
SynonymsDat1, DAT
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03345
Quality Score
Status
Chromosome13
Chromosomal Location73536747-73578672 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73571514 bp
ZygosityHeterozygous
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]
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
5330417C22Rik A G 3: 108,492,016 V86A possibly damaging Het
9130409I23Rik A T 1: 181,055,372 H233L probably benign Het
Abcc3 A G 11: 94,359,337 W987R probably damaging Het
Adcy5 T C 16: 35,248,814 V384A probably benign Het
Akap12 T C 10: 4,356,697 V1169A probably benign Het
Atp8a2 T C 14: 59,774,011 T950A probably benign Het
Avil T C 10: 127,008,957 probably benign Het
Bccip A G 7: 133,709,491 D45G probably benign Het
Bcl9 A G 3: 97,209,192 S729P probably benign Het
C3 T A 17: 57,219,585 I799F probably damaging Het
Cstf2 C T X: 134,061,045 R80C probably damaging Het
Dock7 A G 4: 98,984,819 F1130S possibly damaging Het
Fat2 C T 11: 55,282,361 D2509N probably damaging Het
Fut10 T C 8: 31,260,041 S452P probably damaging Het
Gabrb1 T A 5: 72,136,565 M394K possibly damaging Het
Gkn3 T A 6: 87,388,816 E7V probably null Het
Gpld1 G A 13: 24,987,024 G803R probably damaging Het
Hipk2 A G 6: 38,748,002 probably benign Het
Kcnu1 A T 8: 25,881,293 probably benign Het
Kidins220 A T 12: 25,003,045 S445C probably damaging Het
Ltbp1 A G 17: 75,066,159 K266E probably damaging Het
Myh4 A T 11: 67,255,478 D1454V probably damaging Het
Nrf1 A C 6: 30,089,948 T9P probably damaging Het
Nt5dc1 T C 10: 34,324,462 E187G probably benign Het
Obscn T A 11: 58,995,482 probably benign Het
Pkd2l2 T C 18: 34,425,089 Y274H probably damaging Het
Rgs8 A G 1: 153,692,810 K149R probably benign Het
Rinl A G 7: 28,796,797 E401G possibly damaging Het
Rsbn1 A G 3: 103,915,150 R234G possibly damaging Het
Slc7a2 A G 8: 40,916,493 S646G probably benign Het
Syt5 A G 7: 4,542,207 V231A probably benign Het
Timeless T G 10: 128,247,586 S695A probably benign Het
Tmem131l G A 3: 83,961,589 P160S probably damaging Het
Tspear C A 10: 77,874,882 probably null Het
Ubn1 T A 16: 5,081,964 H1113Q probably damaging Het
Vmn2r49 T G 7: 9,984,694 K481T probably damaging Het
Xdh T C 17: 73,906,032 N872S probably damaging Het
Other mutations in Slc6a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc6a3 APN 13 73544741 missense probably damaging 1.00
IGL01524:Slc6a3 APN 13 73538549 missense probably benign 0.01
IGL02015:Slc6a3 APN 13 73544714 missense possibly damaging 0.60
IGL03008:Slc6a3 APN 13 73558285 critical splice donor site probably null
IGL03029:Slc6a3 APN 13 73538697 missense probably damaging 1.00
IGL03064:Slc6a3 APN 13 73571466 missense probably damaging 0.99
IGL03272:Slc6a3 APN 13 73540929 missense probably damaging 0.98
IGL03294:Slc6a3 APN 13 73557181 critical splice donor site probably null
IGL03410:Slc6a3 APN 13 73538657 missense probably benign 0.03
disney UTSW 13 73544884 missense probably benign
dopey UTSW 13 73560959 missense probably damaging 1.00
Dopey2 UTSW 13 73544817 missense probably damaging 1.00
Stiff UTSW 13 73557050 missense possibly damaging 0.85
PIT4382001:Slc6a3 UTSW 13 73571523 missense probably benign 0.35
R0024:Slc6a3 UTSW 13 73540837 splice site probably benign
R0125:Slc6a3 UTSW 13 73569979 splice site probably benign
R0180:Slc6a3 UTSW 13 73562336 missense probably damaging 1.00
R0288:Slc6a3 UTSW 13 73560928 missense probably damaging 1.00
R0322:Slc6a3 UTSW 13 73560926 missense possibly damaging 0.61
R0349:Slc6a3 UTSW 13 73567557 missense probably damaging 1.00
R0411:Slc6a3 UTSW 13 73557050 missense possibly damaging 0.85
R0594:Slc6a3 UTSW 13 73538642 missense probably damaging 0.99
R0680:Slc6a3 UTSW 13 73538727 missense probably damaging 1.00
R1099:Slc6a3 UTSW 13 73567641 missense probably benign 0.21
R1109:Slc6a3 UTSW 13 73557080 missense probably benign 0.00
R1791:Slc6a3 UTSW 13 73566292 missense possibly damaging 0.82
R3916:Slc6a3 UTSW 13 73562308 missense probably benign 0.00
R4279:Slc6a3 UTSW 13 73544834 missense possibly damaging 0.90
R4368:Slc6a3 UTSW 13 73560912 nonsense probably null
R4520:Slc6a3 UTSW 13 73540856 missense possibly damaging 0.95
R4666:Slc6a3 UTSW 13 73538581 missense possibly damaging 0.47
R4675:Slc6a3 UTSW 13 73544817 missense probably damaging 1.00
R4716:Slc6a3 UTSW 13 73557076 missense probably benign 0.04
R5243:Slc6a3 UTSW 13 73571451 missense possibly damaging 0.61
R5355:Slc6a3 UTSW 13 73560959 missense probably damaging 1.00
R5681:Slc6a3 UTSW 13 73538735 missense probably damaging 0.99
R5737:Slc6a3 UTSW 13 73544804 missense probably damaging 0.99
R6142:Slc6a3 UTSW 13 73544783 missense probably benign 0.00
R6471:Slc6a3 UTSW 13 73544884 missense probably benign
R7168:Slc6a3 UTSW 13 73571472 missense probably benign 0.00
R7403:Slc6a3 UTSW 13 73562427 critical splice donor site probably null
R8282:Slc6a3 UTSW 13 73557081 missense probably benign 0.01
R8359:Slc6a3 UTSW 13 73544883 missense probably benign
Posted On2016-08-02