Incidental Mutation 'R8282:Slc6a3'
| ID |
638270 |
| 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 |
067705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73705200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 230
(D230E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022100
AA Change: D230E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: D230E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
A |
1: 165,337,906 (GRCm39) |
D173E |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,605,371 (GRCm39) |
D721G |
possibly damaging |
Het |
| Allc |
T |
C |
12: 28,607,356 (GRCm39) |
T299A |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,575 (GRCm39) |
|
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Brf2 |
G |
T |
8: 27,614,621 (GRCm39) |
R30S |
|
Het |
| Bsn |
A |
G |
9: 107,984,890 (GRCm39) |
S283P |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,912,740 (GRCm39) |
S233T |
possibly damaging |
Het |
| Chst15 |
T |
A |
7: 131,871,879 (GRCm39) |
H134L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,284,276 (GRCm39) |
T846A |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,591,572 (GRCm39) |
D555V |
probably damaging |
Het |
| Cyld |
C |
A |
8: 89,432,043 (GRCm39) |
P14T |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,176,738 (GRCm39) |
R1264H |
possibly damaging |
Het |
| Dkk3 |
T |
A |
7: 111,717,489 (GRCm39) |
S327C |
probably damaging |
Het |
| Dnmbp |
T |
G |
19: 43,879,005 (GRCm39) |
H22P |
unknown |
Het |
| Duxf4 |
T |
G |
10: 58,072,148 (GRCm39) |
Q22P |
possibly damaging |
Het |
| Fabp4 |
T |
A |
3: 10,270,342 (GRCm39) |
T103S |
probably benign |
Het |
| Fam43a |
T |
C |
16: 30,420,106 (GRCm39) |
L230P |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fank1 |
T |
A |
7: 133,478,493 (GRCm39) |
Y186N |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,044,555 (GRCm39) |
R286K |
possibly damaging |
Het |
| Fmnl2 |
G |
A |
2: 52,997,678 (GRCm39) |
|
probably null |
Het |
| Gli2 |
T |
A |
1: 118,765,701 (GRCm39) |
S817C |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gstt2 |
C |
G |
10: 75,668,291 (GRCm39) |
A155P |
probably benign |
Het |
| Ints9 |
T |
A |
14: 65,244,757 (GRCm39) |
M213K |
probably benign |
Het |
| Jak1 |
G |
A |
4: 101,036,738 (GRCm39) |
R301* |
probably null |
Het |
| Kdsr |
T |
C |
1: 106,652,727 (GRCm39) |
T302A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,331,123 (GRCm39) |
E460G |
probably damaging |
Het |
| Larp1b |
G |
A |
3: 40,991,245 (GRCm39) |
R193H |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,324,560 (GRCm39) |
K487R |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,809,029 (GRCm39) |
E205G |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,431,580 (GRCm39) |
S1193T |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,852 (GRCm39) |
T268S |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,529 (GRCm39) |
C105* |
probably null |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Padi1 |
T |
C |
4: 140,542,014 (GRCm39) |
H636R |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,097,293 (GRCm39) |
I266T |
probably damaging |
Het |
| Rell2 |
A |
T |
18: 38,090,665 (GRCm39) |
Q114L |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,426,289 (GRCm39) |
|
probably null |
Het |
| Rpia |
T |
C |
6: 70,748,002 (GRCm39) |
N265D |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,723,645 (GRCm39) |
D16G |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,006,005 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Taf6l |
A |
G |
19: 8,750,714 (GRCm39) |
I120T |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,327 (GRCm39) |
V143A |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,969,624 (GRCm39) |
D328G |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,029,523 (GRCm39) |
S1836P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,402,440 (GRCm39) |
L64F |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,601 (GRCm39) |
Y212* |
probably null |
Het |
| Vps54 |
T |
A |
11: 21,250,464 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
A |
T |
4: 145,349,547 (GRCm39) |
D328V |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,535 (GRCm39) |
H231Q |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,369 (GRCm39) |
T334S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,536 (GRCm39) |
M207V |
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 |
|
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 |
|
|
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'- AAGGCACCTAGCTTCTCTGTC -3'
(R):5'- ATCTGCTCACACACCATGGC -3'
Sequencing Primer
(F):5'- TCTGTCCATCTTAACAGAGTTCAG -3'
(R):5'- ACACACCATGGCCATATGTTTATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation