Incidental Mutation 'R0680:Slc6a3'
| ID |
61763 |
| 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 |
038865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0680 (G1)
|
| Quality Score |
137 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73686846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 71
(L71P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022100
AA Change: L71P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: L71P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clca4a |
A |
T |
3: 144,675,128 (GRCm39) |
F167L |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,706,703 (GRCm39) |
M2137V |
unknown |
Het |
| Dennd2a |
A |
T |
6: 39,459,996 (GRCm39) |
L703Q |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,821,703 (GRCm39) |
I5812N |
possibly damaging |
Het |
| Gen1 |
T |
A |
12: 11,291,870 (GRCm39) |
S640C |
probably benign |
Het |
| Il9 |
T |
C |
13: 56,629,693 (GRCm39) |
T61A |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,425,530 (GRCm39) |
L700P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,824,926 (GRCm39) |
V1514I |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,070,992 (GRCm39) |
|
probably null |
Het |
| Or14a257 |
A |
T |
7: 86,138,545 (GRCm39) |
F71L |
probably benign |
Het |
| Or4c11c |
A |
T |
2: 88,662,124 (GRCm39) |
Y221F |
probably benign |
Het |
| Or52n2 |
A |
G |
7: 104,542,211 (GRCm39) |
I208T |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,626,687 (GRCm39) |
Y257F |
probably damaging |
Het |
| Pcdhb18 |
G |
C |
18: 37,623,347 (GRCm39) |
A226P |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,720,360 (GRCm39) |
N338Y |
possibly damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,289,847 (GRCm39) |
I360R |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,501 (GRCm39) |
Y509H |
probably damaging |
Het |
| Shisa7 |
T |
A |
7: 4,834,722 (GRCm39) |
D279V |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,043,967 (GRCm39) |
D1449G |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,082,539 (GRCm39) |
L268Q |
probably null |
Het |
| St7 |
T |
C |
6: 17,942,732 (GRCm39) |
S563P |
probably damaging |
Het |
| Stx1b |
A |
G |
7: 127,406,895 (GRCm39) |
V240A |
possibly damaging |
Het |
| Sugt1 |
A |
G |
14: 79,847,751 (GRCm39) |
I200M |
possibly damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
| Ube4a |
T |
A |
9: 44,859,358 (GRCm39) |
Q380L |
probably damaging |
Het |
| Ugt1a2 |
A |
G |
1: 88,128,933 (GRCm39) |
Y192C |
probably damaging |
Het |
| Ulbp3 |
T |
A |
10: 3,075,133 (GRCm39) |
|
noncoding transcript |
Het |
| Unc93b1 |
G |
A |
19: 3,997,093 (GRCm39) |
V505I |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,965,884 (GRCm39) |
S576P |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,827,941 (GRCm39) |
H2208Q |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,357,497 (GRCm39) |
S1133C |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,316,174 (GRCm39) |
D282G |
possibly damaging |
Het |
| Zswim9 |
A |
C |
7: 12,994,248 (GRCm39) |
V636G |
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 |
|
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'- AGAAGGAAACAGACTTCCTCGGGC -3'
(R):5'- TCCCGCTGTGAGCAATTTCCTGTG -3'
Sequencing Primer
(F):5'- CCGTGGGACCAATGTCTTC -3'
(R):5'- gctttactgactgactcatctcc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation