Incidental Mutation 'R4360:Slc18a3'
Institutional Source Beutler Lab
Gene Symbol Slc18a3
Ensembl Gene ENSMUSG00000100241
Gene Namesolute carrier family 18 (vesicular monoamine), member 3
SynonymsVAT, VAChT
MMRRC Submission 041111-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R4360 (G1)
Quality Score225
Status Validated
Chromosomal Location32462438-32464850 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32463925 bp
Amino Acid Change Valine to Alanine at position 167 (V167A)
Ref Sequence ENSEMBL: ENSMUSP00000139829 (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

Pfam:Carn_acyltransf 24 612 5.5e-190 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180662
Predicted Effect probably benign
Transcript: ENSMUST00000191501
AA Change: V167A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241
AA Change: V167A

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
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (50/50)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik T C 14: 66,938,401 noncoding transcript Het
Adgra3 T C 5: 49,990,210 E496G possibly damaging Het
Atg14 C G 14: 47,568,370 E13Q probably benign Het
BC023105 G T 18: 60,442,001 noncoding transcript Het
Chd6 A G 2: 160,949,856 V2527A possibly damaging Het
Csn1s2a G T 5: 87,781,841 V100L possibly damaging Het
Fah G A 7: 84,589,648 L330F probably damaging Het
Fmo2 T C 1: 162,882,014 N268S probably damaging Het
Foxg1 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 12: 49,384,692 probably benign Het
Frmd4a A T 2: 4,601,241 H287L probably damaging Het
G2e3 T A 12: 51,363,414 probably benign Het
Gm1758 A T 16: 14,506,351 noncoding transcript Het
Gm7204 T C 16: 48,218,833 noncoding transcript Het
Gm829 T C 4: 45,718,819 noncoding transcript Het
Hspa14 A G 2: 3,502,523 V116A possibly damaging Het
Hspa4 T C 11: 53,265,092 Y662C probably damaging Het
Islr T A 9: 58,157,604 N207Y probably damaging Het
Lipc T C 9: 70,852,582 probably benign Het
Ncor2 A G 5: 125,028,972 S1546P probably damaging Het
Olfr539 T C 7: 140,667,817 F170L probably damaging Het
Olfr679 A C 7: 105,086,253 E179A probably damaging Het
Olfr830 G A 9: 18,875,717 C127Y probably damaging Het
Parp4 A G 14: 56,629,204 D1075G possibly damaging Het
Pkp2 A G 16: 16,268,682 I736V probably benign Het
Plekha8 T C 6: 54,622,186 I235T probably benign Het
Polq A G 16: 37,060,339 D955G probably benign Het
Pramef25 A G 4: 143,950,863 F49L possibly damaging Het
Psmd1 A G 1: 86,133,737 K890E probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Scpep1 A G 11: 88,930,244 Y366H possibly damaging Het
Sp8 A G 12: 118,848,665 D85G possibly damaging Het
Stard3nl G A 13: 19,370,484 S144L probably damaging Het
Stk4 A G 2: 164,088,959 E160G possibly damaging Het
Tbcb T C 7: 30,227,035 N119S probably benign Het
Tnc G T 4: 64,016,924 R592S probably benign Het
Trem3 T A 17: 48,249,773 S91T probably benign Het
Trpc6 A G 9: 8,610,266 E245G probably benign Het
Usp40 C T 1: 87,952,361 R1036H probably damaging Het
Usp47 G T 7: 112,054,932 G112C probably damaging Het
Wdr35 T C 12: 8,974,149 probably benign Het
Zc3h14 A G 12: 98,780,197 K555R probably benign Het
Zfp26 T C 9: 20,438,573 S232G probably benign Het
Zfp811 T C 17: 32,798,458 T202A probably benign Het
Other mutations in Slc18a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02938:Slc18a3 APN 14 32463815 missense probably damaging 1.00
IGL03336:Slc18a3 APN 14 32462828 intron probably benign
R3153:Slc18a3 UTSW 14 32463271 missense probably benign 0.01
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-07-06