Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Slc6a3'

15150

Institutional Source

Beutler Lab

Gene Symbol

Slc6a3

Ensembl Gene

ENSMUSG00000021609

Gene Name

solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

Synonyms

Dat1, DAT

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73536747-73578672 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 73540837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022100]

AlphaFold

Q61327

Predicted Effect

probably benign
Transcript: ENSMUST00000022100

SMART Domains

Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609

Domain	Start	End	E-Value	Type
Pfam:SNF	60	582	8.1e-237	PFAM

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,752,436	T2067M	probably damaging	Het
Akip1	T	C	7: 109,704,138	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,729,527	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,467,440	I256T	probably benign	Het
Arnt2	A	G	7: 84,284,126	V308A	probably benign	Het
Astn1	G	A	1: 158,684,215	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,599,820		probably benign	Het
Bbx	T	A	16: 50,224,918	M427L	probably benign	Het
Cadm4	T	C	7: 24,502,744	L336P	probably benign	Het
Camk2d	A	G	3: 126,797,723	M281V	probably benign	Het
Dll3	A	G	7: 28,300,161		probably benign	Het
Dscam	G	A	16: 96,593,385	R1906*	probably null	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,892,356	T676A	probably benign	Het
Entpd5	T	C	12: 84,373,733	M428T	probably benign	Het
Fry	T	G	5: 150,380,803	S553A	probably benign	Het
Gls2	G	A	10: 128,199,256	R86H	probably damaging	Het
Gm14340	T	A	2: 180,824,250		noncoding transcript	Het
Gm9457	A	C	8: 4,813,131		noncoding transcript	Het
Hfm1	T	C	5: 106,856,924	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,751,939	T473A	probably benign	Het
Krt34	A	T	11: 100,041,037	C119S	probably benign	Het
Krt6a	A	G	15: 101,690,715		probably benign	Het
Lysmd4	A	G	7: 67,226,080	T164A	probably benign	Het
Mroh2b	T	A	15: 4,925,627	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,315,535		probably benign	Het
Plcb1	A	G	2: 135,362,425	S900G	probably benign	Het
Plxna2	T	A	1: 194,643,995	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,636,659		probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,685,272	K110E	probably benign	Het
Sin3a	T	A	9: 57,118,253		probably benign	Het
Slc24a2	T	C	4: 87,028,240		probably benign	Het
St5	T	C	7: 109,524,659	H1131R	probably damaging	Het
Sugct	G	A	13: 16,857,869	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,141,788	I310M	probably damaging	Het
Tpm3	C	A	3: 90,087,449		probably null	Het
Ttc27	T	C	17: 74,770,264	F385L	possibly damaging	Het
Utrn	A	G	10: 12,406,011	V3301A	probably benign	Het

Other mutations in Slc6a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc6a3	APN	13	73544741	missense	probably damaging	1.00
IGL01524:Slc6a3	APN	13	73538549	missense	probably benign	0.01
IGL02015:Slc6a3	APN	13	73544714	missense	possibly damaging	0.60
IGL03008:Slc6a3	APN	13	73558285	critical splice donor site	probably null
IGL03029:Slc6a3	APN	13	73538697	missense	probably damaging	1.00
IGL03064:Slc6a3	APN	13	73571466	missense	probably damaging	0.99
IGL03272:Slc6a3	APN	13	73540929	missense	probably damaging	0.98
IGL03294:Slc6a3	APN	13	73557181	critical splice donor site	probably null
IGL03345:Slc6a3	APN	13	73571514	missense	probably benign
IGL03410:Slc6a3	APN	13	73538657	missense	probably benign	0.03
disney	UTSW	13	73544884	missense	probably benign
dopey	UTSW	13	73560959	missense	probably damaging	1.00
Dopey2	UTSW	13	73544817	missense	probably damaging	1.00
Stiff	UTSW	13	73557050	missense	possibly damaging	0.85
PIT4382001:Slc6a3	UTSW	13	73571523	missense	probably benign	0.35
R0125:Slc6a3	UTSW	13	73569979	splice site	probably benign
R0180:Slc6a3	UTSW	13	73562336	missense	probably damaging	1.00
R0288:Slc6a3	UTSW	13	73560928	missense	probably damaging	1.00
R0322:Slc6a3	UTSW	13	73560926	missense	possibly damaging	0.61
R0349:Slc6a3	UTSW	13	73567557	missense	probably damaging	1.00
R0411:Slc6a3	UTSW	13	73557050	missense	possibly damaging	0.85
R0594:Slc6a3	UTSW	13	73538642	missense	probably damaging	0.99
R0680:Slc6a3	UTSW	13	73538727	missense	probably damaging	1.00
R1099:Slc6a3	UTSW	13	73567641	missense	probably benign	0.21
R1109:Slc6a3	UTSW	13	73557080	missense	probably benign	0.00
R1791:Slc6a3	UTSW	13	73566292	missense	possibly damaging	0.82
R3916:Slc6a3	UTSW	13	73562308	missense	probably benign	0.00
R4279:Slc6a3	UTSW	13	73544834	missense	possibly damaging	0.90
R4368:Slc6a3	UTSW	13	73560912	nonsense	probably null
R4520:Slc6a3	UTSW	13	73540856	missense	possibly damaging	0.95
R4666:Slc6a3	UTSW	13	73538581	missense	possibly damaging	0.47
R4675:Slc6a3	UTSW	13	73544817	missense	probably damaging	1.00
R4716:Slc6a3	UTSW	13	73557076	missense	probably benign	0.04
R5243:Slc6a3	UTSW	13	73571451	missense	possibly damaging	0.61
R5355:Slc6a3	UTSW	13	73560959	missense	probably damaging	1.00
R5681:Slc6a3	UTSW	13	73538735	missense	probably damaging	0.99
R5737:Slc6a3	UTSW	13	73544804	missense	probably damaging	0.99
R6142:Slc6a3	UTSW	13	73544783	missense	probably benign	0.00
R6471:Slc6a3	UTSW	13	73544884	missense	probably benign
R7168:Slc6a3	UTSW	13	73571472	missense	probably benign	0.00
R7403:Slc6a3	UTSW	13	73562427	critical splice donor site	probably null
R8282:Slc6a3	UTSW	13	73557081	missense	probably benign	0.01
R8359:Slc6a3	UTSW	13	73544883	missense	probably benign
R8446:Slc6a3	UTSW	13	73571555	missense	possibly damaging	0.67
R8979:Slc6a3	UTSW	13	73567601	missense	probably benign	0.20
R9051:Slc6a3	UTSW	13	73569912	nonsense	probably null
R9377:Slc6a3	UTSW	13	73544847	missense	probably benign	0.07

Posted On

2012-12-12