Incidental Mutation 'R7168:Slc6a3'
| ID |
558076 |
| 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 |
045263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7168 (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 C
at 73719591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 540
(V540A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022100]
|
| AlphaFold |
Q61327 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022100
AA Change: V540A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: V540A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
60 |
582 |
8.1e-237 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,262,831 (GRCm39) |
D1388V |
probably damaging |
Het |
| 2900026A02Rik |
C |
A |
5: 113,285,659 (GRCm39) |
R65L |
probably damaging |
Het |
| Abcb10 |
A |
T |
8: 124,693,350 (GRCm39) |
L318Q |
|
Het |
| Abhd18 |
T |
A |
3: 40,889,371 (GRCm39) |
V417D |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,743,769 (GRCm39) |
K99E |
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,296,241 (GRCm39) |
I206N |
possibly damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,545,328 (GRCm39) |
S5652R |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,579,426 (GRCm39) |
T221M |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,893,831 (GRCm39) |
M854K |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,027,155 (GRCm39) |
T375S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,813 (GRCm39) |
C210* |
probably null |
Het |
| Arid3b |
A |
T |
9: 57,712,818 (GRCm39) |
D232E |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,919,282 (GRCm39) |
C342Y |
probably damaging |
Het |
| BC035947 |
T |
C |
1: 78,476,230 (GRCm39) |
M101V |
probably benign |
Het |
| Brd3 |
G |
A |
2: 27,344,411 (GRCm39) |
R440C |
possibly damaging |
Het |
| Deaf1 |
C |
T |
7: 140,904,509 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,858,610 (GRCm39) |
T300A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,788,529 (GRCm39) |
I519F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,808 (GRCm39) |
F2820S |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,925,971 (GRCm39) |
I132T |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,885,090 (GRCm39) |
V810A |
probably damaging |
Het |
| Gm14403 |
A |
C |
2: 177,201,318 (GRCm39) |
Q179P |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,250 (GRCm39) |
M251V |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,561,114 (GRCm39) |
S298P |
probably benign |
Het |
| Impact |
T |
A |
18: 13,119,370 (GRCm39) |
|
probably null |
Het |
| Itgal |
T |
C |
7: 126,929,385 (GRCm39) |
F1101L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,656,064 (GRCm39) |
R579Q |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,427,425 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
G |
16: 22,898,391 (GRCm39) |
D597G |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,836,332 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,242,148 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,598,361 (GRCm39) |
C614F |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,810 (GRCm39) |
E168G |
unknown |
Het |
| Lvrn |
A |
C |
18: 47,014,389 (GRCm39) |
K525T |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,719,184 (GRCm39) |
R2249H |
probably damaging |
Het |
| Mmp16 |
G |
T |
4: 18,110,550 (GRCm39) |
G449C |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,785,392 (GRCm39) |
V350A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,417,754 (GRCm39) |
M3567V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,748,513 (GRCm39) |
L361Q |
probably damaging |
Het |
| Myom1 |
T |
A |
17: 71,396,942 (GRCm39) |
S1063R |
probably benign |
Het |
| Notch4 |
A |
C |
17: 34,791,667 (GRCm39) |
H582P |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,964,837 (GRCm39) |
C1474S |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,048 (GRCm39) |
I231N |
probably damaging |
Het |
| Or4g17 |
A |
T |
2: 111,210,224 (GRCm39) |
D293V |
probably damaging |
Het |
| Or5d36 |
A |
C |
2: 87,900,921 (GRCm39) |
N268K |
probably benign |
Het |
| Or8b40 |
G |
T |
9: 38,027,959 (GRCm39) |
S294I |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,513,946 (GRCm39) |
V241D |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,736,622 (GRCm39) |
N654K |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,607,446 (GRCm39) |
G121D |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,659,874 (GRCm39) |
S1260P |
probably benign |
Het |
| Pwp1 |
G |
T |
10: 85,720,401 (GRCm39) |
R346I |
probably damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,144,232 (GRCm39) |
T800I |
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Resf1 |
T |
G |
6: 149,229,341 (GRCm39) |
F796V |
probably benign |
Het |
| Slc1a3 |
G |
T |
15: 8,675,386 (GRCm39) |
N206K |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,654,661 (GRCm39) |
P265S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,343,674 (GRCm39) |
V56E |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,276 (GRCm39) |
T55S |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,859,404 (GRCm39) |
V206G |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,918,445 (GRCm39) |
N1479S |
probably benign |
Het |
| Trpv2 |
T |
A |
11: 62,473,914 (GRCm39) |
C190S |
probably benign |
Het |
| Umod |
A |
T |
7: 119,077,549 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,585 (GRCm39) |
Y2862N |
|
Het |
| Vmn1r158 |
A |
G |
7: 22,490,101 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zfp420 |
A |
G |
7: 29,574,791 (GRCm39) |
Y337C |
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 |
|
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 |
|
|
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'- TATGCCATTGGTGCCTCAGG -3'
(R):5'- TATGGTCCAGGGATGGAGAC -3'
Sequencing Primer
(F):5'- CCATTGGTGCCTCAGGAAGATATTG -3'
(R):5'- GAACCATTAGAATGATGAACCCCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation