Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03011:Slc18a1'

407757

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc18a1

Ensembl Gene

ENSMUSG00000036330

Gene Name

solute carrier family 18 (vesicular monoamine), member 1

Synonyms

4832416I10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03011

Quality Score

Status

Chromosome

Chromosomal Location

69490363-69541887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69491515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 500 (T500A)

Ref Sequence

ENSEMBL: ENSMUSP00000046924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037478]

AlphaFold

Q8R090

Predicted Effect

probably benign
Transcript: ENSMUST00000037478
AA Change: T500A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: T500A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	430	3.7e-34	PFAM
Pfam:MFS_1	302	508	9e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased neuron apoptosis, decreased neuron proliferation and impaired spatial object recognition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Apob	C	A	12: 8,047,883 (GRCm39)	P941Q	probably damaging	Het
Armc9	T	A	1: 86,127,638 (GRCm39)		probably null	Het
Arpc5l	T	C	2: 38,903,730 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,592,621 (GRCm39)	D1745Y	probably damaging	Het
Atp9a	A	G	2: 168,494,552 (GRCm39)	V651A	probably damaging	Het
Ccnyl1	T	C	1: 64,747,631 (GRCm39)	I148T	possibly damaging	Het
Cfap95	T	A	19: 23,630,017 (GRCm39)	D25V	unknown	Het
Chrna6	A	T	8: 27,903,682 (GRCm39)	W17R	possibly damaging	Het
Cpne1	G	A	2: 155,919,917 (GRCm39)	H244Y	probably damaging	Het
Cpxm2	A	G	7: 131,650,807 (GRCm39)	Y618H	possibly damaging	Het
Csf1r	T	C	18: 61,243,473 (GRCm39)	I163T	probably benign	Het
Ctdsp1	T	C	1: 74,434,606 (GRCm39)		probably benign	Het
Ctsb	T	A	14: 63,370,806 (GRCm39)	I6N	probably benign	Het
Dcbld1	A	G	10: 52,160,244 (GRCm39)	N44S	probably damaging	Het
Dnah11	C	T	12: 117,976,112 (GRCm39)	C2769Y	probably benign	Het
Efemp2	C	A	19: 5,530,093 (GRCm39)	Q187K	probably damaging	Het
Elavl3	A	T	9: 21,947,612 (GRCm39)	I109N	probably damaging	Het
Elovl5	G	T	9: 77,890,066 (GRCm39)	K292N	probably benign	Het
Epb41	G	T	4: 131,731,105 (GRCm39)	P1T	probably damaging	Het
Gm44865	G	T	7: 108,165,007 (GRCm39)		probably benign	Het
Gnat2	C	A	3: 108,007,368 (GRCm39)	T262K	probably damaging	Het
Katnip	T	C	7: 125,451,174 (GRCm39)	C1102R	probably benign	Het
Kmt2e	A	T	5: 23,702,540 (GRCm39)	I951F	probably damaging	Het
Large2	T	C	2: 92,197,927 (GRCm39)	H258R	probably damaging	Het
Lnx1	G	A	5: 74,846,420 (GRCm39)	P10L	probably benign	Het
Lrp6	G	A	6: 134,497,380 (GRCm39)	S209L	possibly damaging	Het
Mc3r	A	G	2: 172,091,716 (GRCm39)	I313V	probably benign	Het
Med1	T	C	11: 98,051,859 (GRCm39)	D468G	possibly damaging	Het
Mlxip	T	C	5: 123,584,014 (GRCm39)	S526P	probably benign	Het
Myo15a	T	C	11: 60,400,357 (GRCm39)		probably benign	Het
Nedd1	T	C	10: 92,525,503 (GRCm39)	D602G	possibly damaging	Het
Nol7	C	T	13: 43,554,769 (GRCm39)		probably benign	Het
Or8c10	T	C	9: 38,279,364 (GRCm39)	I174T	possibly damaging	Het
Piezo2	T	C	18: 63,257,731 (GRCm39)	D329G	probably benign	Het
Pkia	G	T	3: 7,507,142 (GRCm39)	E75*	probably null	Het
Pramel26	A	C	4: 143,538,330 (GRCm39)	F214V	possibly damaging	Het
Ptpn14	A	T	1: 189,571,754 (GRCm39)	T282S	probably damaging	Het
Ptprg	C	T	14: 12,219,029 (GRCm38)	P408S	probably damaging	Het
Rpa2	A	G	4: 132,502,358 (GRCm39)	I147V	probably benign	Het
Serpina12	T	C	12: 103,997,397 (GRCm39)	T375A	possibly damaging	Het
Serpinb11	T	A	1: 107,307,546 (GRCm39)	S326T	probably damaging	Het
Tapt1	A	G	5: 44,350,529 (GRCm39)	F247L	possibly damaging	Het
Trav8d-2	A	G	14: 53,280,218 (GRCm39)	I69M	possibly damaging	Het

Other mutations in Slc18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc18a1	APN	8	69,503,998 (GRCm39)	missense	probably damaging	1.00
IGL00661:Slc18a1	APN	8	69,526,383 (GRCm39)	missense	probably benign	0.00
IGL01568:Slc18a1	APN	8	69,518,278 (GRCm39)	missense	probably damaging	1.00
IGL02199:Slc18a1	APN	8	69,496,632 (GRCm39)	missense	probably benign	0.03
IGL03260:Slc18a1	APN	8	69,527,766 (GRCm39)	missense	probably benign	0.24
R0349:Slc18a1	UTSW	8	69,524,753 (GRCm39)	missense	probably damaging	1.00
R1019:Slc18a1	UTSW	8	69,527,685 (GRCm39)	critical splice donor site	probably null
R1759:Slc18a1	UTSW	8	69,518,237 (GRCm39)	missense	possibly damaging	0.95
R1928:Slc18a1	UTSW	8	69,526,464 (GRCm39)	missense	probably benign	0.00
R2058:Slc18a1	UTSW	8	69,496,613 (GRCm39)	missense	probably damaging	1.00
R4652:Slc18a1	UTSW	8	69,496,583 (GRCm39)	missense	possibly damaging	0.71
R4724:Slc18a1	UTSW	8	69,526,301 (GRCm39)	nonsense	probably null
R4818:Slc18a1	UTSW	8	69,492,951 (GRCm39)	missense	probably damaging	0.99
R6799:Slc18a1	UTSW	8	69,493,633 (GRCm39)	missense	probably benign	0.05
R6989:Slc18a1	UTSW	8	69,491,514 (GRCm39)	missense	probably benign	0.01
R7557:Slc18a1	UTSW	8	69,518,213 (GRCm39)	missense	probably damaging	1.00
R7736:Slc18a1	UTSW	8	69,518,206 (GRCm39)	critical splice donor site	probably null
R7956:Slc18a1	UTSW	8	69,491,466 (GRCm39)	missense	probably benign	0.00
R8024:Slc18a1	UTSW	8	69,527,799 (GRCm39)	missense	probably benign	0.00
R8146:Slc18a1	UTSW	8	69,495,401 (GRCm39)	missense	possibly damaging	0.83
R8339:Slc18a1	UTSW	8	69,518,273 (GRCm39)	missense	possibly damaging	0.91
R9055:Slc18a1	UTSW	8	69,520,823 (GRCm39)	missense	possibly damaging	0.95
R9129:Slc18a1	UTSW	8	69,491,533 (GRCm39)	missense	probably benign	0.00
R9190:Slc18a1	UTSW	8	69,519,790 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02