Incidental Mutation 'IGL03029:Slc6a3'
| ID |
408322 |
| 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)
|
| Stock # |
IGL03029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73686816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 61
(E61V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022100
AA Change: E61V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: E61V
| Domain | Start | End | E-Value | Type |
|---|
|
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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
A |
9: 106,312,314 (GRCm39) |
D213V |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,933,195 (GRCm39) |
L229P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,304 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
C |
T |
15: 83,206,851 (GRCm39) |
E246K |
probably damaging |
Het |
| Cadps |
G |
T |
14: 12,376,675 (GRCm38) |
T1274K |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,768,451 (GRCm39) |
T89A |
probably benign |
Het |
| Cylc1 |
A |
C |
X: 110,156,944 (GRCm39) |
|
probably benign |
Het |
| Dach2 |
T |
A |
X: 112,724,833 (GRCm39) |
L492* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,038,416 (GRCm39) |
|
probably null |
Het |
| Fanci |
T |
C |
7: 79,093,747 (GRCm39) |
V1033A |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,036,740 (GRCm39) |
I3464T |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,712 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
G |
T |
7: 4,760,839 (GRCm39) |
N624K |
possibly damaging |
Het |
| Hectd3 |
G |
T |
4: 116,854,162 (GRCm39) |
E271* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,818,715 (GRCm39) |
L2802P |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,715,314 (GRCm39) |
R407C |
probably damaging |
Het |
| Josd2 |
T |
C |
7: 44,120,601 (GRCm39) |
S71P |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,928,313 (GRCm39) |
T1152A |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,469 (GRCm39) |
V1229I |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,212,592 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
T |
A |
10: 78,447,792 (GRCm39) |
I228F |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,798,535 (GRCm39) |
I476F |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,457,899 (GRCm39) |
Y91H |
probably damaging |
Het |
| Pik3r3 |
T |
G |
4: 116,156,998 (GRCm39) |
V393G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,295,588 (GRCm39) |
|
probably null |
Het |
| Prx |
C |
T |
7: 27,207,486 (GRCm39) |
R48* |
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,631,652 (GRCm39) |
S222P |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,704,482 (GRCm39) |
I302N |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,967 (GRCm39) |
F331L |
probably damaging |
Het |
| Shisa4 |
G |
T |
1: 135,300,914 (GRCm39) |
Q119K |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,839 (GRCm39) |
E346V |
probably damaging |
Het |
| Slc9a7 |
T |
A |
X: 20,157,608 (GRCm39) |
M106L |
probably benign |
Het |
| Srek1 |
A |
G |
13: 103,900,468 (GRCm39) |
|
probably benign |
Het |
| Strc |
G |
A |
2: 121,194,525 (GRCm39) |
L1788F |
possibly damaging |
Het |
| Styk1 |
T |
C |
6: 131,277,523 (GRCm39) |
S284G |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,909,625 (GRCm39) |
T158S |
probably benign |
Het |
| Vangl1 |
C |
T |
3: 102,091,400 (GRCm39) |
V229M |
probably damaging |
Het |
| Vsig1 |
A |
G |
X: 139,827,261 (GRCm39) |
T137A |
possibly damaging |
Het |
|
| Other mutations in Slc6a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation