Incidental Mutation 'R0322:Slc6a3'
| ID |
25629 |
| 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 |
038532-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73709045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 323
(V323D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022100
AA Change: V323D
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: V323D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.8%
- 20x: 84.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,888,768 (GRCm39) |
S275T |
possibly damaging |
Het |
| Adam34 |
G |
T |
8: 44,104,958 (GRCm39) |
T229N |
probably benign |
Het |
| Adgrb3 |
C |
A |
1: 25,260,829 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Arl9 |
A |
G |
5: 77,155,037 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
G |
A |
2: 118,470,099 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,678,844 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
A |
11: 12,217,072 (GRCm39) |
E465V |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,932,442 (GRCm39) |
M520K |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,995,793 (GRCm39) |
V336A |
possibly damaging |
Het |
| Dnmbp |
T |
C |
19: 43,843,285 (GRCm39) |
H1193R |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,152,338 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,760 (GRCm39) |
M175K |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,636,563 (GRCm39) |
N415K |
probably benign |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,510,301 (GRCm39) |
F251I |
probably benign |
Het |
| Insc |
A |
G |
7: 114,391,500 (GRCm39) |
E141G |
probably damaging |
Het |
| Itm2c |
C |
T |
1: 85,834,751 (GRCm39) |
T160M |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,416,063 (GRCm39) |
|
probably benign |
Het |
| Mdm2 |
G |
T |
10: 117,538,109 (GRCm39) |
H96Q |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,371,745 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
C |
10: 39,823,526 (GRCm39) |
N245D |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Mymk |
A |
T |
2: 26,957,418 (GRCm39) |
L66Q |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,720,626 (GRCm39) |
S767P |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,926,634 (GRCm39) |
D134G |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,982,566 (GRCm39) |
F83S |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,179,042 (GRCm39) |
I123L |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,059,534 (GRCm39) |
T394A |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,509,011 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,521 (GRCm39) |
Y178C |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,383 (GRCm39) |
T306A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,140,775 (GRCm39) |
|
probably benign |
Het |
| Phyhip |
G |
A |
14: 70,700,836 (GRCm39) |
V108M |
possibly damaging |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Psmb4 |
A |
G |
3: 94,793,402 (GRCm39) |
Y160H |
probably benign |
Het |
| Riox2 |
A |
T |
16: 59,309,752 (GRCm39) |
K369* |
probably null |
Het |
| Rnf26rt |
T |
C |
6: 76,473,401 (GRCm39) |
Y405C |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,863,905 (GRCm39) |
P761S |
possibly damaging |
Het |
| Smg7 |
A |
G |
1: 152,725,624 (GRCm39) |
|
probably null |
Het |
| Srrt |
G |
A |
5: 137,294,870 (GRCm39) |
R370C |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,266,858 (GRCm39) |
V7A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,057,996 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
A |
G |
2: 23,984,991 (GRCm39) |
V51A |
probably benign |
Het |
| Tecr |
A |
G |
8: 84,298,872 (GRCm39) |
Y248H |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,947 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,397,369 (GRCm39) |
A114V |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,739,275 (GRCm39) |
M2K |
probably benign |
Het |
| Tnfsf8 |
T |
C |
4: 63,752,403 (GRCm39) |
T221A |
probably damaging |
Het |
| Tubgcp5 |
G |
A |
7: 55,464,726 (GRCm39) |
G536S |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,142,125 (GRCm39) |
I145N |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,149,729 (GRCm39) |
V1809E |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,756 (GRCm39) |
N309K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATACTAGGGATGCGGTAGGGC -3'
(R):5'- TTCATTTCCAAGAGGCAGACCCCAG -3'
Sequencing Primer
(F):5'- AGCTGAGAACTTTTGCAGCC -3'
(R):5'- CGCGACACAGACTAGGTTTT -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation