Incidental Mutation 'R9322:Slc18a3'
ID 706281
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R9322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 32184395-32186807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32185282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 367 (I367T)
Ref Sequence ENSEMBL: ENSMUSP00000139829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070125] [ENSMUST00000191501] [ENSMUST00000226351] [ENSMUST00000226365] [ENSMUST00000227579] [ENSMUST00000228256] [ENSMUST00000228420] [ENSMUST00000228511]
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 probably benign
Transcript: ENSMUST00000191501
AA Change: I367T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241
AA Change: I367T

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 probably benign
Transcript: ENSMUST00000228256
Predicted Effect probably benign
Transcript: ENSMUST00000228420
Predicted Effect probably benign
Transcript: ENSMUST00000228511
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,192,331 (GRCm39) V727A probably damaging Het
Arhgef33 T A 17: 80,677,818 (GRCm39) L455* probably null Het
Arnt T C 3: 95,397,929 (GRCm39) S591P probably benign Het
Asic4 A G 1: 75,446,462 (GRCm39) M335V probably benign Het
Atp1a2 A G 1: 172,107,625 (GRCm39) S665P possibly damaging Het
Cat T C 2: 103,303,333 (GRCm39) N148S probably damaging Het
Ccdc121rt3 T A 5: 112,503,272 (GRCm39) Y144F probably damaging Het
Ccdc9 T C 7: 16,012,360 (GRCm39) D274G probably damaging Het
Ciao3 G C 17: 25,998,548 (GRCm39) Q217H probably damaging Het
Csnk1g2 T C 10: 80,474,978 (GRCm39) Y332H probably damaging Het
Csrnp1 T C 9: 119,801,853 (GRCm39) E402G probably damaging Het
Dchs2 T A 3: 83,189,001 (GRCm39) I1455N possibly damaging Het
Dnah12 A T 14: 26,492,934 (GRCm39) I1232F possibly damaging Het
Dsn1 C T 2: 156,843,669 (GRCm39) V144I possibly damaging Het
Efcab3 A T 11: 104,765,199 (GRCm39) E2501V probably benign Het
Epha6 A T 16: 60,245,118 (GRCm39) S360R probably damaging Het
Fasl A T 1: 161,609,512 (GRCm39) L158Q probably damaging Het
Filip1 A T 9: 79,727,014 (GRCm39) V535E probably benign Het
Fmo5 A T 3: 97,546,190 (GRCm39) K168* probably null Het
Gm5157 T G 7: 20,919,431 (GRCm39) K37N probably benign Het
Grm8 T A 6: 27,363,728 (GRCm39) I596F possibly damaging Het
Il23a T C 10: 128,132,990 (GRCm39) E123G probably benign Het
Itpr2 T C 6: 146,226,587 (GRCm39) T1386A probably benign Het
Krt79 T A 15: 101,840,245 (GRCm39) Q317L possibly damaging Het
Lhx4 A G 1: 155,578,353 (GRCm39) I263T probably benign Het
Med4 T C 14: 73,747,601 (GRCm39) L34P probably damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mief2 A T 11: 60,621,844 (GRCm39) H138L possibly damaging Het
Nat3 A T 8: 68,000,162 (GRCm39) K14* probably null Het
Nbeal1 T A 1: 60,297,818 (GRCm39) I1216N possibly damaging Het
Nlrp1b T C 11: 71,108,118 (GRCm39) E461G probably benign Het
Or11h23 C A 14: 50,948,507 (GRCm39) T240N probably damaging Het
Or5aq7 T C 2: 86,938,561 (GRCm39) T57A probably damaging Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Pdha2 C A 3: 140,916,550 (GRCm39) M319I probably benign Het
Pik3r2 A G 8: 71,227,494 (GRCm39) V43A possibly damaging Het
Psd T A 19: 46,301,880 (GRCm39) E902V probably damaging Het
Psme3 A C 11: 101,211,437 (GRCm39) H198P probably damaging Het
Rlbp1 T C 7: 79,027,003 (GRCm39) D219G possibly damaging Het
Scn1b C A 7: 30,824,517 (GRCm39) W57L probably damaging Het
Sfrp2 T C 3: 83,674,006 (GRCm39) I53T probably damaging Het
Skic2 T C 17: 35,066,439 (GRCm39) probably null Het
Slc44a2 A T 9: 21,258,246 (GRCm39) R499W probably damaging Het
St18 A G 1: 6,865,747 (GRCm39) D75G probably benign Het
Trim67 C A 8: 125,549,967 (GRCm39) Y532* probably null Het
Ttc16 C T 2: 32,664,952 (GRCm39) probably benign Het
Usp7 A T 16: 8,517,124 (GRCm39) S487T probably damaging Het
Vmn2r104 T C 17: 20,263,087 (GRCm39) T125A probably benign Het
Vmn2r70 T C 7: 85,208,498 (GRCm39) T660A possibly damaging Het
Zer1 A T 2: 30,000,923 (GRCm39) V166D 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
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
R6696:Slc18a3 UTSW 14 32,186,270 (GRCm39) missense possibly damaging 0.89
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'- TGAACGATATGGCCTGCTAC -3'
(R):5'- ACCATAGCCACGTGGATGAAG -3'

Sequencing Primer
(F):5'- AACGATATGGCCTGCTACTATGG -3'
(R):5'- GCCACGTGGATGAAGCACAC -3'
Posted On 2022-04-18