Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03336:Slc18a3'

417056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc18a3

Ensembl Gene

ENSMUSG00000100241

Gene Name

solute carrier family 18 (vesicular monoamine), member 3

Synonyms

VAT, VAChT

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

32462438-32464850 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 32462828 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000191501] [ENSMUST00000226351] [ENSMUST00000226365] [ENSMUST00000227579] [ENSMUST00000228256] [ENSMUST00000228420] [ENSMUST00000228511]

Predicted Effect

probably benign
Transcript: ENSMUST00000070125

SMART Domains

Protein: ENSMUSP00000070865
Gene: ENSMUSG00000021919

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	24	612	5.5e-190	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180662

Predicted Effect

probably benign
Transcript: ENSMUST00000191501

SMART Domains

Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241

Domain	Start	End	E-Value	Type
Pfam:MFS_1	35	415	3.1e-32	PFAM
Pfam:Sugar_tr	83	268	3.3e-8	PFAM
transmembrane domain	416	438	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226351

Predicted Effect

probably benign
Transcript: ENSMUST00000226365

Predicted Effect

probably benign
Transcript: ENSMUST00000227579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227675

Predicted Effect

probably benign
Transcript: ENSMUST00000228256

Predicted Effect

probably benign
Transcript: ENSMUST00000228420

Predicted Effect

probably benign
Transcript: ENSMUST00000228511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228806

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased acetylcholine release, grip strength, coordination, exercise endurance, and social recognition memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 60,016,402	V63A	probably benign	Het
Ankrd11	A	G	8: 122,891,843	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,729,807	Y629*	probably null	Het
Cenpf	T	C	1: 189,652,647	K2479E	probably damaging	Het
Clip1	G	T	5: 123,653,570	S179*	probably null	Het
Cmya5	A	G	13: 93,093,505	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,671,035	S119G	probably benign	Het
Fndc5	T	C	4: 129,139,918	F160L	probably benign	Het
Muc5b	T	C	7: 141,864,363	V3682A	probably damaging	Het
Myh8	G	T	11: 67,284,702	D328Y	probably damaging	Het
Olfr1226	T	C	2: 89,193,897	T46A	probably benign	Het
Olfr566	C	T	7: 102,856,616	C222Y	probably benign	Het
Olfr633	T	C	7: 103,947,409	L281P	probably damaging	Het
Olfr713	T	A	7: 107,036,335	M60K	probably damaging	Het
Olfr772	T	C	10: 129,174,229	E264G	probably benign	Het
Paxbp1	T	C	16: 91,034,172	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,302,961	V660A	possibly damaging	Het
Pcyt2	T	C	11: 120,615,932	D32G	probably damaging	Het
Pdzph1	A	T	17: 58,974,234	V351D	probably benign	Het
Ribc2	C	T	15: 85,132,913	Q51*	probably null	Het
Scn2a	A	G	2: 65,688,744	E438G	probably damaging	Het
Slc5a1	G	A	5: 33,146,943	V296I	probably benign	Het
Slit3	A	T	11: 35,670,101	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114		probably benign	Het
Susd3	A	C	13: 49,238,782	S144R	probably benign	Het
Synpo2	T	C	3: 123,114,179	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,439,131	T269A	probably benign	Het
Tmem156	A	G	5: 65,075,764	Y152H	probably benign	Het
Tmem247	A	G	17: 86,918,429	E99G	probably damaging	Het
Tuba3b	A	G	6: 145,619,724	D306G	possibly damaging	Het
Vps13c	T	A	9: 67,951,642	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,737,527	Y98C	probably damaging	Het

Other mutations in Slc18a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02938:Slc18a3	APN	14	32463815	missense	probably damaging	1.00
R3153:Slc18a3	UTSW	14	32463271	missense	probably benign	0.01
R4360:Slc18a3	UTSW	14	32463925	missense	probably benign
R5001:Slc18a3	UTSW	14	32463779	missense	possibly damaging	0.61
R5257:Slc18a3	UTSW	14	32463820	missense	probably damaging	1.00
R5271:Slc18a3	UTSW	14	32463748	missense	probably damaging	1.00
R5316:Slc18a3	UTSW	14	32462857	missense	probably benign
R5846:Slc18a3	UTSW	14	32463923	missense	probably benign
R6696:Slc18a3	UTSW	14	32464313	missense	possibly damaging	0.89
Z1176:Slc18a3	UTSW	14	32463122	missense	probably damaging	1.00
Z1177:Slc18a3	UTSW	14	32464328	missense	probably benign	0.12

Posted On

2016-08-02