Incidental Mutation 'R6142:Slc6a3'
| ID |
488634 |
| 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 |
044289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73692902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 174
(D174V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022100
AA Change: D174V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: D174V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
T |
C |
15: 98,496,303 (GRCm39) |
M579V |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,370,558 (GRCm39) |
D16G |
probably benign |
Het |
| Akap12 |
C |
A |
10: 4,263,740 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,438,456 (GRCm39) |
E979G |
possibly damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,234,328 (GRCm39) |
D8G |
probably damaging |
Het |
| AW551984 |
G |
T |
9: 39,508,410 (GRCm39) |
L369I |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,009,043 (GRCm39) |
H207L |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,860,540 (GRCm39) |
V490F |
probably damaging |
Het |
| Cnot6l |
C |
T |
5: 96,230,837 (GRCm39) |
V377I |
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,376,978 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
G |
1: 93,118,201 (GRCm39) |
Q375E |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,261,218 (GRCm39) |
|
probably null |
Het |
| Gm28168 |
C |
A |
1: 117,875,678 (GRCm39) |
D102E |
probably benign |
Het |
| Gm8212 |
T |
C |
14: 44,438,684 (GRCm39) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,709,024 (GRCm39) |
T53A |
probably benign |
Het |
| Hipk4 |
G |
A |
7: 27,228,590 (GRCm39) |
V347M |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,269,309 (GRCm39) |
E991G |
probably benign |
Het |
| Hyal1 |
G |
A |
9: 107,456,573 (GRCm39) |
R420H |
probably benign |
Het |
| Il5 |
G |
A |
11: 53,611,805 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
T |
C |
2: 62,569,704 (GRCm39) |
I731V |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,362,817 (GRCm39) |
K759* |
probably null |
Het |
| Lnpep |
A |
G |
17: 17,786,943 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
T |
C |
14: 75,184,940 (GRCm39) |
E54G |
probably damaging |
Het |
| Msl3l2 |
A |
G |
10: 55,991,461 (GRCm39) |
D62G |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,531 (GRCm39) |
L339P |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,761 (GRCm39) |
I20V |
probably damaging |
Het |
| Pgm5 |
A |
C |
19: 24,801,772 (GRCm39) |
I152S |
probably damaging |
Het |
| Plcg2 |
C |
A |
8: 118,312,010 (GRCm39) |
T434K |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,537,956 (GRCm39) |
E558G |
unknown |
Het |
| Ranbp3 |
T |
C |
17: 56,993,018 (GRCm39) |
V12A |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,687,984 (GRCm39) |
V635A |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,746,164 (GRCm39) |
V14A |
probably benign |
Het |
| Rxrg |
G |
T |
1: 167,460,191 (GRCm39) |
A341S |
possibly damaging |
Het |
| Sbf2 |
A |
G |
7: 109,948,182 (GRCm39) |
S1177P |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,414,266 (GRCm39) |
T498A |
probably benign |
Het |
| Slc13a4 |
G |
A |
6: 35,278,718 (GRCm39) |
A57V |
probably damaging |
Het |
| Spart |
T |
G |
3: 55,024,669 (GRCm39) |
V88G |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,663,566 (GRCm39) |
R1108* |
probably null |
Het |
| Tas2r140 |
C |
T |
6: 133,032,698 (GRCm39) |
G20E |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,940,373 (GRCm39) |
V225A |
probably benign |
Het |
| Tmem168 |
C |
A |
6: 13,591,368 (GRCm39) |
A99S |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,488,917 (GRCm39) |
D252E |
probably damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,591,460 (GRCm39) |
H20L |
probably benign |
Het |
| Tram1l1 |
T |
C |
3: 124,115,092 (GRCm39) |
F84S |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,240,763 (GRCm39) |
I117L |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,315,829 (GRCm39) |
L219S |
possibly damaging |
Het |
| Zfp40 |
C |
A |
17: 23,395,311 (GRCm39) |
E425D |
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,135,481 (GRCm39) |
T372A |
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 |
|
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'- GGATGTCAATGCACCAGCTC -3'
(R):5'- GTGGTGTCCTCTGTGTCGAAAC -3'
Sequencing Primer
(F):5'- CCAGCTCAGGGTGAGTAGAC -3'
(R):5'- TGTCGAAACTGAGTTCCCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation