Incidental Mutation 'R4368:Slc6a3'
ID |
325865 |
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 |
041115-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 73709031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 318
(C318*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
AlphaFold |
Q61327 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022100
AA Change: C318*
|
SMART Domains |
Protein: ENSMUSP00000022100 Gene: ENSMUSG00000021609 AA Change: C318*
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (46/47) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
G |
3: 59,754,199 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2fm2 |
T |
C |
3: 59,659,387 (GRCm39) |
F280S |
probably damaging |
Het |
Adamts7 |
G |
A |
9: 90,077,904 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
C |
13: 81,641,029 (GRCm39) |
S3335R |
unknown |
Het |
Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,042,296 (GRCm39) |
Q2761* |
probably null |
Het |
Cdh19 |
G |
A |
1: 110,817,442 (GRCm39) |
Q767* |
probably null |
Het |
Cep120 |
G |
A |
18: 53,818,957 (GRCm39) |
|
probably null |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,738,629 (GRCm39) |
F753I |
possibly damaging |
Het |
Hspb7 |
A |
T |
4: 141,151,329 (GRCm39) |
E157V |
probably damaging |
Het |
Irx6 |
A |
G |
8: 93,405,029 (GRCm39) |
E299G |
probably damaging |
Het |
Jhy |
T |
A |
9: 40,828,440 (GRCm39) |
N489Y |
possibly damaging |
Het |
Klhl22 |
T |
C |
16: 17,607,137 (GRCm39) |
V481A |
possibly damaging |
Het |
Mapk13 |
A |
G |
17: 28,996,539 (GRCm39) |
|
probably null |
Het |
Meis1 |
A |
T |
11: 18,960,656 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,797,012 (GRCm39) |
K301E |
probably benign |
Het |
Nol10 |
T |
C |
12: 17,429,293 (GRCm39) |
Y340H |
probably damaging |
Het |
Or2k2 |
T |
C |
4: 58,785,153 (GRCm39) |
S190G |
probably benign |
Het |
Paqr3 |
T |
C |
5: 97,256,150 (GRCm39) |
S75G |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,972,061 (GRCm39) |
T113A |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Psph |
T |
G |
5: 129,848,654 (GRCm39) |
K9T |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,644,852 (GRCm39) |
Y1163C |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,221,470 (GRCm39) |
L319P |
unknown |
Het |
Slc4a7 |
C |
T |
14: 14,733,775 (GRCm38) |
R62W |
probably damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Taf1c |
A |
C |
8: 120,326,055 (GRCm39) |
S602R |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,464,958 (GRCm39) |
D229G |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,857,382 (GRCm39) |
|
probably benign |
Het |
Trim45 |
T |
C |
3: 100,830,502 (GRCm39) |
I92T |
probably damaging |
Het |
Ttll8 |
G |
A |
15: 88,798,384 (GRCm39) |
P784S |
possibly damaging |
Het |
Tubg1 |
G |
T |
11: 101,016,190 (GRCm39) |
|
probably null |
Het |
Vmn1r178 |
A |
T |
7: 23,593,447 (GRCm39) |
N92I |
probably damaging |
Het |
Vmn2r87 |
A |
G |
10: 130,315,676 (GRCm39) |
V130A |
probably benign |
Het |
Wdr46 |
A |
G |
17: 34,160,120 (GRCm39) |
|
probably benign |
Het |
Yme1l1 |
A |
G |
2: 23,050,223 (GRCm39) |
H18R |
possibly damaging |
Het |
Zfp263 |
T |
A |
16: 3,562,770 (GRCm39) |
|
probably benign |
Het |
Zfp534 |
T |
C |
4: 147,760,015 (GRCm39) |
D218G |
probably benign |
Het |
Zscan12 |
T |
C |
13: 21,553,553 (GRCm39) |
V459A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTACCTACTGCCACCAAGCTG -3'
(R):5'- GCTCAGAGGCCTCATGATTTTC -3'
Sequencing Primer
(F):5'- AGCTGAGAACTTTTGCAGCC -3'
(R):5'- AGAGGCCTCATGATTTTCCTCTGG -3'
|
Posted On |
2015-07-06 |