Incidental Mutation 'IGL00661:Slc18a1'
ID 14048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc18a1
Ensembl Gene ENSMUSG00000036330
Gene Name solute carrier family 18 (vesicular monoamine), member 1
Synonyms 4832416I10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00661
Quality Score
Status
Chromosome 8
Chromosomal Location 69490363-69541887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69526383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 102 (W102R)
Ref Sequence ENSEMBL: ENSMUSP00000046924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037478] [ENSMUST00000148856]
AlphaFold Q8R090
Predicted Effect probably benign
Transcript: ENSMUST00000037478
AA Change: W102R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: W102R

DomainStartEndE-ValueType
Pfam:MFS_1 24 430 3.7e-34 PFAM
Pfam:MFS_1 302 508 9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147674
Predicted Effect probably benign
Transcript: ENSMUST00000148856
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased neuron apoptosis, decreased neuron proliferation and impaired spatial object recognition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Slc18a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Slc18a1 APN 8 69,503,998 (GRCm39) missense probably damaging 1.00
IGL01568:Slc18a1 APN 8 69,518,278 (GRCm39) missense probably damaging 1.00
IGL02199:Slc18a1 APN 8 69,496,632 (GRCm39) missense probably benign 0.03
IGL03011:Slc18a1 APN 8 69,491,515 (GRCm39) missense probably benign
IGL03260:Slc18a1 APN 8 69,527,766 (GRCm39) missense probably benign 0.24
R0349:Slc18a1 UTSW 8 69,524,753 (GRCm39) missense probably damaging 1.00
R1019:Slc18a1 UTSW 8 69,527,685 (GRCm39) critical splice donor site probably null
R1759:Slc18a1 UTSW 8 69,518,237 (GRCm39) missense possibly damaging 0.95
R1928:Slc18a1 UTSW 8 69,526,464 (GRCm39) missense probably benign 0.00
R2058:Slc18a1 UTSW 8 69,496,613 (GRCm39) missense probably damaging 1.00
R4652:Slc18a1 UTSW 8 69,496,583 (GRCm39) missense possibly damaging 0.71
R4724:Slc18a1 UTSW 8 69,526,301 (GRCm39) nonsense probably null
R4818:Slc18a1 UTSW 8 69,492,951 (GRCm39) missense probably damaging 0.99
R6799:Slc18a1 UTSW 8 69,493,633 (GRCm39) missense probably benign 0.05
R6989:Slc18a1 UTSW 8 69,491,514 (GRCm39) missense probably benign 0.01
R7557:Slc18a1 UTSW 8 69,518,213 (GRCm39) missense probably damaging 1.00
R7736:Slc18a1 UTSW 8 69,518,206 (GRCm39) critical splice donor site probably null
R7956:Slc18a1 UTSW 8 69,491,466 (GRCm39) missense probably benign 0.00
R8024:Slc18a1 UTSW 8 69,527,799 (GRCm39) missense probably benign 0.00
R8146:Slc18a1 UTSW 8 69,495,401 (GRCm39) missense possibly damaging 0.83
R8339:Slc18a1 UTSW 8 69,518,273 (GRCm39) missense possibly damaging 0.91
R9055:Slc18a1 UTSW 8 69,520,823 (GRCm39) missense possibly damaging 0.95
R9129:Slc18a1 UTSW 8 69,491,533 (GRCm39) missense probably benign 0.00
R9190:Slc18a1 UTSW 8 69,519,790 (GRCm39) critical splice donor site probably null
Posted On 2012-12-06