Incidental Mutation 'IGL03336:Slc18a3'
ID417056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc18a3
Ensembl Gene ENSMUSG00000100241
Gene Namesolute carrier family 18 (vesicular monoamine), member 3
SynonymsVAT, VAChT
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL03336
Quality Score
Status
Chromosome14
Chromosomal Location32462438-32464850 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 32462828 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2016-08-02