Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Slc18a1'

617586

Institutional Source

Beutler Lab

Gene Symbol

Slc18a1

Ensembl Gene

ENSMUSG00000036330

Gene Name

solute carrier family 18 (vesicular monoamine), member 1

Synonyms

4832416I10Rik

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69490363-69541887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69527799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 4 (V4A)

Ref Sequence

ENSEMBL: ENSMUSP00000046924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037478] [ENSMUST00000148856]

AlphaFold

Q8R090

Predicted Effect

probably benign
Transcript: ENSMUST00000037478
AA Change: V4A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: V4A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148856
AA Change: V4A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,634,080 (GRCm39)	M373K	probably benign	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Focad	T	C	4: 88,315,237 (GRCm39)	V1379A	unknown	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Inf2	C	T	12: 112,575,336 (GRCm39)	P856S	unknown	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmc1	A	T	19: 20,878,181 (GRCm39)	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,025,987 (GRCm39)	E827G	probably benign	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Vwa5a	C	A	9: 38,647,316 (GRCm39)	S565*	probably null	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	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
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
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'- ACACGTCTCTGCTCATTGATG -3'
(R):5'- ACTCGTGTGCTACTTATAACCC -3'

Sequencing Primer
(F):5'- TCAAACAGGGTCCATGCTG -3'
(R):5'- GTGTGCTACTTATAACCCTTCATG -3'

Posted On

2020-01-23