Incidental Mutation 'R5681:Slc6a3'
| ID |
443064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a3
|
| Ensembl Gene |
ENSMUSG00000021609 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
| Synonyms |
DAT, Dat1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5681 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73686854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 74
(I74F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022100
AA Change: I74F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: I74F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,559 (GRCm39) |
F45S |
possibly damaging |
Het |
| Adora2b |
T |
A |
11: 62,140,067 (GRCm39) |
V47E |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,375,014 (GRCm39) |
I396T |
probably damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,566,562 (GRCm39) |
D1178N |
probably benign |
Het |
| Atp10d |
T |
C |
5: 72,404,289 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,468,347 (GRCm39) |
S264P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,777,484 (GRCm39) |
I644F |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,100,624 (GRCm39) |
V158D |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,208,698 (GRCm39) |
R675G |
probably benign |
Het |
| Cnr2 |
T |
G |
4: 135,644,000 (GRCm39) |
M26R |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,445,085 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,337,038 (GRCm39) |
W696R |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,188 (GRCm39) |
N117S |
unknown |
Het |
| Dnah12 |
T |
C |
14: 26,537,452 (GRCm39) |
C2234R |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,199,836 (GRCm39) |
I1405L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,270 (GRCm39) |
F724L |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,509,308 (GRCm39) |
|
probably null |
Het |
| Enoph1 |
T |
C |
5: 100,210,136 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
T |
4: 124,796,359 (GRCm39) |
Q356L |
unknown |
Het |
| Fbln2 |
G |
T |
6: 91,248,778 (GRCm39) |
V1148L |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,789,654 (GRCm39) |
N627S |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,051,517 (GRCm39) |
V233M |
possibly damaging |
Het |
| Gtf2ird1 |
T |
A |
5: 134,392,172 (GRCm39) |
S800C |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,264,553 (GRCm39) |
|
probably null |
Het |
| Hpdl |
A |
T |
4: 116,678,039 (GRCm39) |
S141T |
probably benign |
Het |
| Klhl29 |
A |
G |
12: 5,140,669 (GRCm39) |
S658P |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,220,565 (GRCm39) |
I1065N |
probably damaging |
Het |
| Lrrn2 |
G |
T |
1: 132,864,899 (GRCm39) |
|
probably benign |
Het |
| Marchf9 |
T |
A |
10: 126,894,172 (GRCm39) |
I144F |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,974 (GRCm39) |
I312V |
possibly damaging |
Het |
| Ngf |
T |
A |
3: 102,427,669 (GRCm39) |
F139L |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,330,866 (GRCm39) |
I2318V |
probably benign |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nphs1 |
A |
G |
7: 30,186,050 (GRCm39) |
D1227G |
probably benign |
Het |
| Olfm3 |
C |
A |
3: 114,915,924 (GRCm39) |
N285K |
probably benign |
Het |
| Or1j1 |
C |
A |
2: 36,702,693 (GRCm39) |
S137I |
probably benign |
Het |
| Or4f60 |
T |
A |
2: 111,902,722 (GRCm39) |
I69F |
probably benign |
Het |
| Or7g35 |
G |
A |
9: 19,496,195 (GRCm39) |
D121N |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,091 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or8b39 |
C |
T |
9: 37,996,927 (GRCm39) |
S265F |
possibly damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,486 (GRCm39) |
S128P |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,217,685 (GRCm39) |
M174L |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,914 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,617,685 (GRCm39) |
T967A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,669,065 (GRCm39) |
V52A |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,884,643 (GRCm39) |
K64R |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,682,593 (GRCm39) |
W69R |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,206 (GRCm39) |
D584G |
probably damaging |
Het |
| Safb |
G |
A |
17: 56,906,000 (GRCm39) |
|
probably benign |
Het |
| Serinc2 |
A |
C |
4: 130,158,869 (GRCm39) |
L10R |
probably damaging |
Het |
| Serpinb12 |
A |
T |
1: 106,874,431 (GRCm39) |
H52L |
probably benign |
Het |
| Serpinb9h |
G |
A |
13: 33,579,812 (GRCm39) |
C20Y |
probably damaging |
Het |
| Serpinf2 |
A |
G |
11: 75,326,765 (GRCm39) |
Y273H |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,660 (GRCm39) |
S107T |
probably benign |
Het |
| Slc41a3 |
T |
C |
6: 90,617,928 (GRCm39) |
L318P |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,067,055 (GRCm39) |
G788D |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,823 (GRCm39) |
D195E |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,999,074 (GRCm39) |
L43P |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,837 (GRCm39) |
I215T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,660,942 (GRCm39) |
V7422I |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,453,357 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
T |
C |
8: 55,115,904 (GRCm39) |
D633G |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,683,239 (GRCm39) |
M445K |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,481,102 (GRCm39) |
F257L |
probably 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 |
|
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 |
|
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'- CGTCTACCCATGAGTAAAAGCAAATG -3'
(R):5'- GCATTTCTTAAGATCACAGCCCC -3'
Sequencing Primer
(F):5'- CAAATGCTCCGTGGGACCAATG -3'
(R):5'- TTCTTAAGATCACAGCCCCCACTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation