Mutagenetix > Incidental Mutation

Incidental Mutation 'R7557:Slc18a1'

584839

Institutional Source

Beutler Lab

Gene Symbol

Slc18a1

Ensembl Gene

ENSMUSG00000036330

Gene Name

solute carrier family 18 (vesicular monoamine), member 1

Synonyms

4832416I10Rik

MMRRC Submission

045652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69490363-69541887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69518213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 267 (D267V)

Ref Sequence

ENSEMBL: ENSMUSP00000046924 (fasta)

Gene Model

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

AlphaFold

Q8R090

Predicted Effect

probably damaging
Transcript: ENSMUST00000037478
AA Change: D267V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: D267V

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,044 (GRCm39)	Q1078*	probably null	Het
Aatk	T	C	11: 119,900,256 (GRCm39)	K1310R	possibly damaging	Het
Acaa2	C	T	18: 74,928,230 (GRCm39)	T153M	possibly damaging	Het
Add3	A	G	19: 53,227,868 (GRCm39)	T518A	probably damaging	Het
Cacnb4	T	C	2: 52,359,579 (GRCm39)	E143G	probably damaging	Het
Cd209a	T	A	8: 3,795,541 (GRCm39)	T177S	probably benign	Het
Chp1	T	A	2: 119,391,238 (GRCm39)	Y32N	probably damaging	Het
Clcn3	T	C	8: 61,390,402 (GRCm39)	T180A	probably damaging	Het
Dctn2	C	A	10: 127,114,273 (GRCm39)	T373N	probably benign	Het
Dipk2a	T	C	9: 94,402,591 (GRCm39)	D357G	probably damaging	Het
Ecpas	A	G	4: 58,849,691 (GRCm39)	Y483H	possibly damaging	Het
Emb	T	A	13: 117,386,252 (GRCm39)	N136K	probably benign	Het
Enpp2	A	T	15: 54,773,536 (GRCm39)	C62S	probably damaging	Het
Fbxo28	G	T	1: 182,169,000 (GRCm39)	A52E	unknown	Het
Gask1b	A	T	3: 79,793,915 (GRCm39)	K128*	probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Ggta1	T	C	2: 35,292,548 (GRCm39)	D253G	probably damaging	Het
Gps1	C	T	11: 120,677,193 (GRCm39)	A164V	probably benign	Het
Gramd4	C	T	15: 85,985,101 (GRCm39)	Q146*	probably null	Het
Kcnh5	A	T	12: 75,054,399 (GRCm39)	M515K	possibly damaging	Het
Klrc3	T	C	6: 129,616,107 (GRCm39)	T203A	probably damaging	Het
Krt26	G	T	11: 99,225,567 (GRCm39)	R305S	probably damaging	Het
Lpin1	A	G	12: 16,630,793 (GRCm39)	V35A		Het
Marf1	C	T	16: 13,950,560 (GRCm39)	R942H	probably damaging	Het
Mfhas1	T	A	8: 36,056,758 (GRCm39)	M411K	possibly damaging	Het
Mok	A	G	12: 110,774,833 (GRCm39)	S330P	probably benign	Het
Msto1	A	G	3: 88,817,435 (GRCm39)		probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or10w1	T	A	19: 13,632,390 (GRCm39)	I199N	possibly damaging	Het
Pcdhgb4	T	A	18: 37,855,847 (GRCm39)	C747*	probably null	Het
Pih1d1	A	G	7: 44,806,183 (GRCm39)	T40A	probably benign	Het
Pih1d2	A	T	9: 50,536,216 (GRCm39)	E290D	probably damaging	Het
Plce1	A	G	19: 38,753,848 (GRCm39)	K1849E	probably benign	Het
Plekha5	T	C	6: 140,372,271 (GRCm39)	Y74H	probably damaging	Het
Pole	T	G	5: 110,460,860 (GRCm39)	I1183S	probably damaging	Het
Ptgs1	T	C	2: 36,135,223 (GRCm39)	S396P	possibly damaging	Het
Rasa2	T	C	9: 96,439,478 (GRCm39)	E575G	probably damaging	Het
Sec22b	A	G	3: 97,808,674 (GRCm39)	T5A	probably damaging	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Tcea1	T	A	1: 4,965,213 (GRCm39)	C294*	probably null	Het
Tut7	T	C	13: 59,936,280 (GRCm39)	I1274V	possibly damaging	Het
Txndc15	T	A	13: 55,865,767 (GRCm39)	M77K	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,475 (GRCm39)	V377D	probably damaging	Het
Vmn2r7	A	G	3: 64,632,394 (GRCm39)	Y23H	probably benign	Het
Vwa3a	T	A	7: 120,394,841 (GRCm39)	M887K	possibly damaging	Het
Zbtb5	T	C	4: 44,995,196 (GRCm39)	N63D	probably 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
IGL03011:Slc18a1	APN	8	69,491,515 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCGAAGGCCATAGGATGC -3'
(R):5'- GTAGAGCTTAGTCCCCAAAGC -3'

Sequencing Primer
(F):5'- GTTATCTGGGATTCTACTAATGGCC -3'
(R):5'- GCTTAGTCCCCAAAGCCTTCAG -3'

Posted On

2019-10-17