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)
|
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
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000022100
|
SMART Domains |
Protein: ENSMUSP00000022100 Gene: ENSMUSG00000021609
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000022100
|
SMART Domains |
Protein: ENSMUSP00000022100 Gene: ENSMUSG00000021609
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |