Incidental Mutation 'R0411:Slc6a3'
| ID |
177846 |
| 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 |
038613-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0411 (G1)
|
| Quality Score |
57 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73705169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 220
(V220A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022100
AA Change: V220A
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: V220A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Meta Mutation Damage Score |
0.4026 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,053,834 (GRCm39) |
|
probably benign |
Het |
| 6030469F06Rik |
A |
T |
12: 31,234,730 (GRCm39) |
|
noncoding transcript |
Het |
| Acad11 |
T |
C |
9: 103,993,495 (GRCm39) |
F541L |
probably damaging |
Het |
| Acin1 |
G |
T |
14: 54,884,231 (GRCm39) |
R92S |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,662,213 (GRCm39) |
S490P |
probably benign |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Arih1 |
A |
T |
9: 59,393,266 (GRCm39) |
I122N |
possibly damaging |
Het |
| Bmi1 |
T |
C |
2: 18,687,983 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
G |
A |
14: 34,137,834 (GRCm39) |
T391I |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,041 (GRCm39) |
K1256E |
probably damaging |
Het |
| Cacng3 |
C |
T |
7: 122,367,795 (GRCm39) |
P225L |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,925,843 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,390,294 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,928,016 (GRCm39) |
I258T |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,428,117 (GRCm39) |
T538M |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,211,135 (GRCm39) |
|
probably benign |
Het |
| Ddost |
T |
A |
4: 138,036,964 (GRCm39) |
S176T |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,750,596 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,286,223 (GRCm39) |
I2681T |
probably damaging |
Het |
| Ern1 |
C |
T |
11: 106,289,412 (GRCm39) |
E964K |
probably benign |
Het |
| Exoc1l |
G |
T |
5: 76,648,334 (GRCm39) |
V47L |
possibly damaging |
Het |
| Galntl5 |
C |
T |
5: 25,425,172 (GRCm39) |
R430C |
probably benign |
Het |
| Gga3 |
A |
G |
11: 115,478,259 (GRCm39) |
L511P |
probably damaging |
Het |
| Gria2 |
C |
T |
3: 80,618,165 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
A |
T |
9: 44,252,949 (GRCm39) |
L28* |
probably null |
Het |
| Iffo2 |
A |
G |
4: 139,330,532 (GRCm39) |
E220G |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,217,562 (GRCm39) |
|
probably benign |
Het |
| Irf2 |
T |
A |
8: 47,299,096 (GRCm39) |
C297S |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,918 (GRCm39) |
Y94H |
probably damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,353 (GRCm39) |
V215A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,580,955 (GRCm39) |
C513S |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,977 (GRCm39) |
M81K |
possibly damaging |
Het |
| Maip1 |
T |
G |
1: 57,454,852 (GRCm39) |
W279G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,721,144 (GRCm39) |
T1263A |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,373,060 (GRCm39) |
I701N |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,910,463 (GRCm39) |
N1292S |
probably benign |
Het |
| Necab2 |
T |
A |
8: 120,180,979 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,741,257 (GRCm39) |
I234F |
possibly damaging |
Het |
| Olfm1 |
G |
A |
2: 28,098,223 (GRCm39) |
R95K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,402 (GRCm39) |
T90A |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,773,823 (GRCm39) |
N280K |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,750 (GRCm39) |
|
probably null |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pard6g |
A |
G |
18: 80,160,337 (GRCm39) |
D150G |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,609,783 (GRCm39) |
L215S |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,594,516 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,765,654 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,955,405 (GRCm39) |
H1687L |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,479,899 (GRCm39) |
L41F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,490,334 (GRCm39) |
S62T |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,395,223 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,234,997 (GRCm39) |
D902G |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,120,068 (GRCm39) |
L719Q |
probably damaging |
Het |
| Slc36a1 |
G |
T |
11: 55,123,333 (GRCm39) |
V433F |
probably benign |
Het |
| Slc6a5 |
A |
T |
7: 49,561,539 (GRCm39) |
R24W |
probably damaging |
Het |
| Smox |
G |
T |
2: 131,362,564 (GRCm39) |
R281L |
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,935,436 (GRCm39) |
H226N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,106,358 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,740,826 (GRCm39) |
S1210N |
possibly damaging |
Het |
| Tns1 |
A |
T |
1: 73,964,920 (GRCm39) |
V1237E |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,094,700 (GRCm39) |
V92M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,717 (GRCm39) |
V34423A |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,918,021 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,286,703 (GRCm39) |
Y112C |
probably damaging |
Het |
| Zfp326 |
G |
T |
5: 106,026,641 (GRCm39) |
A15S |
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 |
|
|
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 |
|
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'- GTTTCCTGACAAGGCACCTAGCTTC -3'
(R):5'- CCAACTGTGCCAACGTATCTGCTC -3'
Sequencing Primer
(F):5'- TCTGTCCATCTTAACAGAGTTCAG -3'
(R):5'- GGCCATATGTTTATCTACCCACTC -3'
|
| Posted On |
2014-04-29 |
Incidental Mutation