Incidental Mutation 'R5243:Slc6a3'
ID |
472465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a3
|
Ensembl Gene |
ENSMUSG00000021609 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
Synonyms |
DAT, Dat1 |
MMRRC Submission |
042814-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5243 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73719570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 533
(Y533C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
AlphaFold |
Q61327 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022100
AA Change: Y533C
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000022100 Gene: ENSMUSG00000021609 AA Change: Y533C
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
95% (62/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,956,543 (GRCm39) |
|
probably null |
Het |
Aatk |
A |
G |
11: 119,907,594 (GRCm39) |
L78P |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,045,972 (GRCm39) |
I412K |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,867,277 (GRCm39) |
R246G |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,693,994 (GRCm39) |
I387F |
probably damaging |
Het |
Atp6v1b2 |
A |
T |
8: 69,556,391 (GRCm39) |
M300L |
probably benign |
Het |
Aurkb |
T |
A |
11: 68,936,752 (GRCm39) |
|
probably benign |
Het |
Card10 |
C |
A |
15: 78,664,872 (GRCm39) |
G694V |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,522,344 (GRCm39) |
N336S |
probably damaging |
Het |
Copg2 |
T |
C |
6: 30,750,626 (GRCm39) |
T720A |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,545,620 (GRCm39) |
W272R |
probably damaging |
Het |
Cpne6 |
T |
A |
14: 55,750,204 (GRCm39) |
C112S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,437,992 (GRCm39) |
M1T |
probably null |
Het |
Dohh |
A |
G |
10: 81,223,203 (GRCm39) |
R161G |
probably benign |
Het |
Dsc1 |
A |
C |
18: 20,232,216 (GRCm39) |
V264G |
probably damaging |
Het |
E4f1 |
A |
T |
17: 24,666,292 (GRCm39) |
C198S |
probably damaging |
Het |
Evpl |
T |
A |
11: 116,113,795 (GRCm39) |
E1298D |
probably damaging |
Het |
Grid2ip |
A |
T |
5: 143,363,260 (GRCm39) |
I246F |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,193 (GRCm39) |
F136S |
possibly damaging |
Het |
Hck |
T |
C |
2: 152,986,412 (GRCm39) |
V387A |
probably damaging |
Het |
Hdac1 |
G |
A |
4: 129,410,646 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
C |
8: 111,232,380 (GRCm39) |
Q1633P |
possibly damaging |
Het |
Igkv12-41 |
A |
G |
6: 69,835,686 (GRCm39) |
I22T |
probably damaging |
Het |
Ints3 |
CA |
CAA |
3: 90,308,451 (GRCm39) |
|
probably null |
Het |
Itpr2 |
C |
G |
6: 146,089,044 (GRCm39) |
W2188C |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,798,086 (GRCm39) |
E899G |
probably damaging |
Het |
Lgals8 |
C |
A |
13: 12,469,645 (GRCm39) |
V12L |
probably benign |
Het |
Lgr6 |
T |
C |
1: 135,037,010 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
T |
G |
5: 105,628,812 (GRCm39) |
I386S |
probably damaging |
Het |
Mks1 |
T |
C |
11: 87,747,504 (GRCm39) |
|
probably benign |
Het |
Mon1b |
A |
G |
8: 114,364,553 (GRCm39) |
D110G |
possibly damaging |
Het |
Mpdz |
G |
T |
4: 81,225,116 (GRCm39) |
A1437E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,309,487 (GRCm39) |
N1753K |
probably damaging |
Het |
Nceh1 |
T |
C |
3: 27,295,837 (GRCm39) |
V366A |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,229,788 (GRCm39) |
D893E |
probably damaging |
Het |
Npc1 |
T |
A |
18: 12,331,688 (GRCm39) |
|
probably benign |
Het |
Or1j15 |
T |
C |
2: 36,458,655 (GRCm39) |
L15P |
probably damaging |
Het |
Or9i1b |
A |
G |
19: 13,897,025 (GRCm39) |
I214V |
probably damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,356 (GRCm39) |
T317A |
probably benign |
Het |
Prl8a9 |
T |
G |
13: 27,746,446 (GRCm39) |
Q54P |
probably damaging |
Het |
Prpf31 |
C |
T |
7: 3,641,753 (GRCm39) |
R351* |
probably null |
Het |
Pspc1 |
C |
T |
14: 57,001,648 (GRCm39) |
G242D |
probably damaging |
Het |
Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,001,836 (GRCm39) |
H1763Q |
possibly damaging |
Het |
Rpusd3 |
T |
C |
6: 113,395,025 (GRCm39) |
T85A |
probably benign |
Het |
Rttn |
A |
G |
18: 89,126,187 (GRCm39) |
I1853M |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,443,406 (GRCm39) |
C1817* |
probably null |
Het |
Scrib |
A |
T |
15: 75,937,101 (GRCm39) |
V335E |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,715,912 (GRCm39) |
L1549P |
possibly damaging |
Het |
Slc25a11 |
C |
T |
11: 70,536,924 (GRCm39) |
G44S |
probably damaging |
Het |
Slc7a5 |
A |
G |
8: 122,623,274 (GRCm39) |
V191A |
probably damaging |
Het |
Son |
A |
G |
16: 91,451,621 (GRCm39) |
K123E |
probably damaging |
Het |
Tcstv3 |
T |
A |
13: 120,779,125 (GRCm39) |
M8K |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,339,548 (GRCm39) |
V411A |
probably damaging |
Het |
Upk3bl |
C |
A |
5: 136,088,977 (GRCm39) |
D1E |
possibly damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Vmn2r75 |
T |
C |
7: 85,813,447 (GRCm39) |
N452D |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,226,054 (GRCm39) |
N1043I |
possibly damaging |
Het |
Zfp407 |
A |
T |
18: 84,579,216 (GRCm39) |
H632Q |
probably damaging |
Het |
Zfp423 |
T |
C |
8: 88,500,275 (GRCm39) |
K1174R |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCATGTGTGTAGATATGCCATTG -3'
(R):5'- CGCCACCTGAACCATTAGAATG -3'
Sequencing Primer
(F):5'- AGATATGCCATTGGTGCCTCAG -3'
(R):5'- CCATTAGAATGATGAACCCCTTGAG -3'
|
Posted On |
2017-04-07 |