Incidental Mutation 'R3153:Slc18a3'
ID 478010
Institutional Source Beutler Lab
Gene Symbol Slc18a3
Ensembl Gene ENSMUSG00000100241
Gene Name solute carrier family 18 (vesicular monoamine), member 3
Synonyms VAT, VAChT
MMRRC Submission 040604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # R3153 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 32184395-32186807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32185228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 385 (V385A)
Ref Sequence ENSEMBL: ENSMUSP00000139829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000191501] [ENSMUST00000226351] [ENSMUST00000226365] [ENSMUST00000227579] [ENSMUST00000228511] [ENSMUST00000228420] [ENSMUST00000228256]
AlphaFold no structure available at present
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
AA Change: V385A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241
AA Change: V385A

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: ENSMUST00000228511
Predicted Effect probably benign
Transcript: ENSMUST00000228420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228806
Predicted Effect probably benign
Transcript: ENSMUST00000228256
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,282,744 (GRCm39) N200H probably damaging Het
Abca17 T A 17: 24,547,720 (GRCm39) D218V probably damaging Het
Abhd12 A G 2: 150,676,275 (GRCm39) F361L probably benign Het
Abr A T 11: 76,377,295 (GRCm39) I59N probably damaging Het
Agbl1 A G 7: 76,369,944 (GRCm39) E681G probably damaging Het
B3gnt4 G T 5: 123,648,716 (GRCm39) R27L probably benign Het
Cct8l1 A C 5: 25,722,137 (GRCm39) E284A probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cndp2 C A 18: 84,686,722 (GRCm39) M433I probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Col20a1 C T 2: 180,650,386 (GRCm39) P1074L probably damaging Het
Coq6 G A 12: 84,418,309 (GRCm39) V298M probably damaging Het
Cpt1a A G 19: 3,406,430 (GRCm39) Y132C probably damaging Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Eps8l1 A T 7: 4,474,798 (GRCm39) I321F probably damaging Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fcrl5 T C 3: 87,350,987 (GRCm39) F166L probably benign Het
Gatc T C 5: 115,473,546 (GRCm39) E131G probably benign Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gprc5b G A 7: 118,575,770 (GRCm39) P385L probably damaging Het
Gsc2 G A 16: 17,732,364 (GRCm39) R137W probably damaging Het
Hsd3b1 T C 3: 98,759,980 (GRCm39) D337G probably damaging Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Kank1 T A 19: 25,388,052 (GRCm39) V575E possibly damaging Het
Kcnmb1 A T 11: 33,916,339 (GRCm39) D95V probably damaging Het
L3mbtl4 T A 17: 68,764,243 (GRCm39) Y125* probably null Het
Lce1h C T 3: 92,670,982 (GRCm39) G57R unknown Het
Lgalsl A G 11: 20,776,487 (GRCm39) F135S probably damaging Het
Lrba A G 3: 86,192,526 (GRCm39) M147V probably damaging Het
Mdm2 T C 10: 117,545,618 (GRCm39) E23G possibly damaging Het
Mthfd1 C A 12: 76,358,737 (GRCm39) Q67K probably benign Het
Mtus2 T C 5: 148,019,870 (GRCm39) L755P probably damaging Het
Or5m13b T C 2: 85,754,074 (GRCm39) V154A probably benign Het
Orc3 A G 4: 34,575,124 (GRCm39) F587L probably damaging Het
Pcdhb7 C T 18: 37,476,126 (GRCm39) P421S probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Pkd1l1 A C 11: 8,817,207 (GRCm39) S1364A probably benign Het
Rin3 A C 12: 102,334,800 (GRCm39) E157A unknown Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Rph3a T C 5: 121,111,440 (GRCm39) T47A probably damaging Het
Sap18 T C 14: 58,039,402 (GRCm39) M68T probably benign Het
Sfrp2 A G 3: 83,680,577 (GRCm39) T246A probably benign Het
Slitrk3 C T 3: 72,956,315 (GRCm39) W819* probably null Het
Smap1 A T 1: 23,892,630 (GRCm39) D111E probably damaging Het
Spesp1 G A 9: 62,189,376 (GRCm39) probably benign Het
Styk1 A T 6: 131,286,975 (GRCm39) Y84* probably null Het
Sv2a T A 3: 96,092,574 (GRCm39) D91E possibly damaging Het
Tbc1d5 A G 17: 51,275,264 (GRCm39) I77T probably damaging Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Zbtb38 T C 9: 96,570,302 (GRCm39) K261E probably benign Het
Zfp202 T C 9: 40,119,734 (GRCm39) L179P probably benign Het
Zkscan5 T A 5: 145,149,437 (GRCm39) S251R probably benign Het
Other mutations in Slc18a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02938:Slc18a3 APN 14 32,185,772 (GRCm39) missense probably damaging 1.00
IGL03336:Slc18a3 APN 14 32,184,785 (GRCm39) intron probably benign
R4360:Slc18a3 UTSW 14 32,185,882 (GRCm39) missense probably benign
R5001:Slc18a3 UTSW 14 32,185,736 (GRCm39) missense possibly damaging 0.61
R5257:Slc18a3 UTSW 14 32,185,777 (GRCm39) missense probably damaging 1.00
R5271:Slc18a3 UTSW 14 32,185,705 (GRCm39) missense probably damaging 1.00
R5316:Slc18a3 UTSW 14 32,184,814 (GRCm39) missense probably benign
R5846:Slc18a3 UTSW 14 32,185,880 (GRCm39) missense probably benign
R6696:Slc18a3 UTSW 14 32,186,270 (GRCm39) missense possibly damaging 0.89
R9322:Slc18a3 UTSW 14 32,185,282 (GRCm39) missense probably benign 0.00
R9473:Slc18a3 UTSW 14 32,185,913 (GRCm39) missense probably benign 0.09
Z1176:Slc18a3 UTSW 14 32,185,079 (GRCm39) missense probably damaging 1.00
Z1177:Slc18a3 UTSW 14 32,186,285 (GRCm39) missense probably benign 0.12
Predicted Primers
Posted On 2017-05-15