Incidental Mutation 'R6696:Slc18a3'
ID 528598
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 044814-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R6696 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 32184395-32186807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32186270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 38 (I38V)
Ref Sequence ENSEMBL: ENSMUSP00000139829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000191501] [ENSMUST00000226351] [ENSMUST00000226365] [ENSMUST00000227579] [ENSMUST00000228511] [ENSMUST00000228256] [ENSMUST00000228420]
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 possibly damaging
Transcript: ENSMUST00000191501
AA Change: I38V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241
AA Change: I38V

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 noncoding transcript
Transcript: ENSMUST00000228806
Predicted Effect probably benign
Transcript: ENSMUST00000228256
Predicted Effect probably benign
Transcript: ENSMUST00000228420
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G T 6: 87,442,633 (GRCm39) H350Q probably damaging Het
Arhgap25 C A 6: 87,443,545 (GRCm39) V305F probably damaging Het
Atg3 A T 16: 44,995,644 (GRCm39) I126F possibly damaging Het
Best2 A T 8: 85,737,873 (GRCm39) L174* probably null Het
Ccdc134 T A 15: 82,015,722 (GRCm39) D67E probably damaging Het
Coasy G T 11: 100,973,927 (GRCm39) R31L possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dhrs7l C T 12: 72,666,255 (GRCm39) A139T possibly damaging Het
Eipr1 C A 12: 28,909,357 (GRCm39) T208N probably benign Het
Epha2 A G 4: 141,048,850 (GRCm39) T606A probably benign Het
Fan1 A T 7: 63,999,826 (GRCm39) I853N probably damaging Het
Fbxw18 A C 9: 109,517,832 (GRCm39) S385A probably benign Het
Galnt11 T C 5: 25,460,112 (GRCm39) V307A probably benign Het
Gata3 A T 2: 9,879,303 (GRCm39) Y224* probably null Het
Gm527 T C 12: 64,967,866 (GRCm39) M96T possibly damaging Het
Hivep2 T C 10: 14,009,503 (GRCm39) F1720S probably benign Het
Hltf T G 3: 20,119,470 (GRCm39) probably null Het
Imp4 T C 1: 34,483,327 (GRCm39) V247A probably benign Het
Iqca1 G A 1: 90,057,922 (GRCm39) T259I probably benign Het
Klra6 A G 6: 129,993,696 (GRCm39) F192L probably benign Het
Lnp1 T C 16: 56,748,149 (GRCm39) K48E possibly damaging Het
Lrp4 A G 2: 91,327,690 (GRCm39) D1513G probably benign Het
Lrrc25 G A 8: 71,071,015 (GRCm39) probably null Het
Macf1 T A 4: 123,403,596 (GRCm39) Y590F probably damaging Het
Mms19 C A 19: 41,942,452 (GRCm39) V359L probably benign Het
Mns1 G A 9: 72,360,044 (GRCm39) R398Q probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nme3 G T 17: 25,116,268 (GRCm39) C158F possibly damaging Het
Pam T A 1: 97,813,452 (GRCm39) H326L possibly damaging Het
Plcxd1 A G 5: 110,249,751 (GRCm39) N151S possibly damaging Het
Prep A T 10: 45,029,174 (GRCm39) N525Y probably damaging Het
Rab11fip5 T C 6: 85,318,928 (GRCm39) I654V possibly damaging Het
Sbf2 T A 7: 110,159,505 (GRCm39) Q35L probably benign Het
Shcbp1 A G 8: 4,789,262 (GRCm39) F519S probably damaging Het
Slc5a2 A T 7: 127,869,215 (GRCm39) I332F probably damaging Het
Slc7a7 C T 14: 54,615,218 (GRCm39) probably null Het
Srbd1 C T 17: 86,446,619 (GRCm39) V47I possibly damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tgfbr3 C T 5: 107,284,796 (GRCm39) V618I probably benign Het
Tmem191 C T 16: 17,100,886 (GRCm39) probably null Het
Tmem67 C A 4: 12,061,754 (GRCm39) probably null Het
Tmem94 C T 11: 115,682,814 (GRCm39) A617V probably damaging Het
Vmn1r71 T A 7: 10,482,401 (GRCm39) I96F probably damaging Het
Vmn2r7 A T 3: 64,614,495 (GRCm39) F440I probably benign Het
Wdr7 A G 18: 63,872,401 (GRCm39) Q445R probably benign Het
Wnk1 A G 6: 119,925,243 (GRCm39) L1407P probably damaging 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
R3153:Slc18a3 UTSW 14 32,185,228 (GRCm39) missense probably benign 0.01
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
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 PCR Primer
(F):5'- CAAGTAGGCGCTGGCATTAG -3'
(R):5'- TTCTCCTGAGCTCGGGGATATG -3'

Sequencing Primer
(F):5'- AGCGATATAGTCGGGAAC -3'
(R):5'- GAAGTACCGTACCCTAGCCTCTG -3'
Posted On 2018-07-24