Incidental Mutation 'IGL01568:Slc18a1'
ID 91065
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 # IGL01568
Quality Score
Status
Chromosome 8
Chromosomal Location 69490363-69541887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69518278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 245 (S245R)
Ref Sequence ENSEMBL: ENSMUSP00000046924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037478]
AlphaFold Q8R090
Predicted Effect probably damaging
Transcript: ENSMUST00000037478
AA Change: S245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: S245R

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: ENSMUST00000147674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162457
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,258,270 (GRCm39) L298* probably null Het
Capn15 G T 17: 26,184,419 (GRCm39) R21S probably damaging Het
Cbs A G 17: 31,840,488 (GRCm39) L290P possibly damaging Het
Dnah5 T C 15: 28,229,798 (GRCm39) I144T probably benign Het
Dok4 T A 8: 95,593,430 (GRCm39) I119F probably benign Het
Dpp9 T C 17: 56,498,159 (GRCm39) N599S probably benign Het
Ep400 T C 5: 110,867,361 (GRCm39) T984A unknown Het
Fcrl2 T C 3: 87,163,986 (GRCm39) N381S probably damaging Het
Fhod3 A G 18: 25,253,219 (GRCm39) I1390V probably benign Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gimap9 A G 6: 48,654,550 (GRCm39) T46A probably benign Het
Gm3696 T C 14: 18,435,020 (GRCm39) N88S probably benign Het
Gm5277 A G 3: 78,799,743 (GRCm39) noncoding transcript Het
Gpr153 C A 4: 152,366,825 (GRCm39) probably null Het
Hgf A T 5: 16,769,812 (GRCm39) K95N probably damaging Het
Igf2r A G 17: 12,902,872 (GRCm39) S2393P possibly damaging Het
Ikbke C A 1: 131,185,633 (GRCm39) probably null Het
Il17re G T 6: 113,447,013 (GRCm39) R588L probably damaging Het
Itch T C 2: 155,054,382 (GRCm39) probably benign Het
Krt1c T A 15: 101,721,646 (GRCm39) D465V probably damaging Het
Krt28 G T 11: 99,262,243 (GRCm39) P249Q probably damaging Het
Lax1 A T 1: 133,608,038 (GRCm39) D234E probably benign Het
Mtmr3 A G 11: 4,477,861 (GRCm39) I61T probably damaging Het
Naip5 G T 13: 100,353,609 (GRCm39) Q1217K probably benign Het
Nt5dc3 A G 10: 86,669,802 (GRCm39) T466A probably benign Het
Or5bw2 A T 7: 6,573,569 (GRCm39) H193L possibly damaging Het
Or8s2 T C 15: 98,276,787 (GRCm39) D68G probably damaging Het
Pcdhb3 T C 18: 37,435,054 (GRCm39) V340A possibly damaging Het
Pclo C T 5: 14,728,443 (GRCm39) probably benign Het
Piezo2 C T 18: 63,163,463 (GRCm39) V2152I probably benign Het
Pip4k2b A T 11: 97,620,378 (GRCm39) probably null Het
Ptprs G A 17: 56,720,958 (GRCm39) H1432Y probably damaging Het
Rars1 A G 11: 35,716,808 (GRCm39) probably benign Het
Scrn1 A G 6: 54,499,739 (GRCm39) probably benign Het
Sdr42e1 T C 8: 118,390,182 (GRCm39) Y153C probably damaging Het
Spmip4 A G 6: 50,550,678 (GRCm39) probably benign Het
Tns1 T G 1: 73,992,668 (GRCm39) D670A probably damaging Het
Trim16 T A 11: 62,711,684 (GRCm39) D118E probably benign Het
Trpv1 A G 11: 73,129,269 (GRCm39) D62G probably benign Het
Tyr A G 7: 87,087,156 (GRCm39) L452P probably damaging Het
Ubr4 T C 4: 139,148,684 (GRCm39) C1723R probably damaging Het
Uqcrb G A 13: 67,049,459 (GRCm39) probably benign Het
Vax2 G T 6: 83,688,519 (GRCm39) V81L possibly damaging Het
Zan A G 5: 137,463,106 (GRCm39) V691A unknown Het
Zfp335 A G 2: 164,736,708 (GRCm39) S976P possibly damaging Het
Zfp384 C T 6: 125,001,095 (GRCm39) P56S probably damaging Het
Other mutations in Slc18a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Slc18a1 APN 8 69,503,998 (GRCm39) missense probably damaging 1.00
IGL00661:Slc18a1 APN 8 69,526,383 (GRCm39) missense probably benign 0.00
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 2013-12-09