Incidental Mutation 'IGL03064:Slc6a3'
| ID |
409582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73684866-73726791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73719585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 538
(S538I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022100
AA Change: S538I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: S538I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,174,864 (GRCm39) |
T210A |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,276,316 (GRCm39) |
T351S |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,755 (GRCm39) |
H1112R |
probably damaging |
Het |
| Angptl6 |
A |
T |
9: 20,786,939 (GRCm39) |
Y261* |
probably null |
Het |
| Arhgef10l |
A |
C |
4: 140,306,590 (GRCm39) |
F395V |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,659,373 (GRCm39) |
N328S |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,039,731 (GRCm39) |
N1186D |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,386,474 (GRCm39) |
F200L |
probably damaging |
Het |
| Calca |
G |
A |
7: 114,232,919 (GRCm39) |
S110L |
probably benign |
Het |
| Ccdc120 |
G |
A |
X: 7,601,601 (GRCm39) |
P263S |
probably benign |
Het |
| Dcaf8l |
A |
G |
X: 88,448,857 (GRCm39) |
V424A |
possibly damaging |
Het |
| Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| F5 |
A |
T |
1: 164,023,163 (GRCm39) |
T1574S |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,968,762 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,134,680 (GRCm39) |
S301T |
possibly damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,787,287 (GRCm39) |
I239N |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,663,514 (GRCm39) |
E163D |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,099 (GRCm39) |
Y1446F |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,572,406 (GRCm39) |
T537M |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,354,636 (GRCm39) |
Y770* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,313,477 (GRCm39) |
V2418E |
probably damaging |
Het |
| Maip1 |
A |
G |
1: 57,446,359 (GRCm39) |
E143G |
probably damaging |
Het |
| Mast4 |
G |
T |
13: 102,897,472 (GRCm39) |
S739* |
probably null |
Het |
| Mctp1 |
C |
T |
13: 76,949,632 (GRCm39) |
Q555* |
probably null |
Het |
| Med14 |
A |
T |
X: 12,613,742 (GRCm39) |
D291E |
probably benign |
Het |
| Mgat2 |
T |
A |
12: 69,231,777 (GRCm39) |
V117D |
probably damaging |
Het |
| Mllt1 |
A |
T |
17: 57,207,094 (GRCm39) |
M250K |
probably benign |
Het |
| Myt1 |
A |
C |
2: 181,439,594 (GRCm39) |
Y372S |
probably benign |
Het |
| Naa16 |
T |
A |
14: 79,577,068 (GRCm39) |
Q735H |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,135,102 (GRCm39) |
Y53C |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,148,934 (GRCm39) |
K180N |
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,746,861 (GRCm39) |
V472A |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,847,315 (GRCm39) |
T705A |
probably benign |
Het |
| Odf2 |
T |
A |
2: 29,791,091 (GRCm39) |
N79K |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,768 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pard3b |
G |
A |
1: 62,237,930 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,182,906 (GRCm39) |
T388I |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,264,457 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,874,186 (GRCm39) |
S17P |
probably damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,102 (GRCm39) |
L90* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,658,788 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,423,952 (GRCm39) |
F534L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,483,686 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
A |
T |
13: 100,947,818 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc35g3 |
T |
C |
11: 69,651,895 (GRCm39) |
H52R |
possibly damaging |
Het |
| Socs2 |
G |
T |
10: 95,248,713 (GRCm39) |
C133* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,076,423 (GRCm39) |
R691H |
probably benign |
Het |
| Tlr11 |
C |
A |
14: 50,598,557 (GRCm39) |
P181Q |
probably damaging |
Het |
| Tlr7 |
T |
A |
X: 166,089,203 (GRCm39) |
Q761L |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,240,336 (GRCm39) |
Y90N |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,675,631 (GRCm39) |
I778V |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,803,797 (GRCm39) |
T385A |
probably benign |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,153 (GRCm39) |
R249H |
probably damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,334,937 (GRCm39) |
I241N |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,083,863 (GRCm39) |
R808G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,308,565 (GRCm39) |
S231C |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation