Incidental Mutation 'IGL00155:Slc18a1'
ID1398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc18a1
Ensembl Gene ENSMUSG00000036330
Gene Namesolute carrier family 18 (vesicular monoamine), member 1
Synonyms4832416I10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00155
Quality Score
Status
Chromosome8
Chromosomal Location69037711-69089235 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 69051346 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 314 (A314T)
Ref Sequence ENSEMBL: ENSMUSP00000046924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037478]
Predicted Effect probably damaging
Transcript: ENSMUST00000037478
AA Change: A314T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: A314T

DomainStartEndE-ValueType
Pfam:MFS_1 24 430 3.7e-34 PFAM
Pfam:MFS_1 302 508 9e-17 PFAM
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A G 5: 11,921,410 S110G possibly damaging Het
Aacs T C 5: 125,513,171 F498S probably damaging Het
Arhgap11a A G 2: 113,834,256 S561P probably benign Het
Best3 T C 10: 116,988,727 Y33H probably damaging Het
Cd209b T A 8: 3,919,945 probably benign Het
Cep152 A G 2: 125,563,888 S1575P probably benign Het
Crabp2 A G 3: 87,952,199 Y52C probably damaging Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Ctnna2 A T 6: 76,980,761 W137R probably damaging Het
Cxcl9 T A 5: 92,323,869 H104L possibly damaging Het
Ddr2 A G 1: 169,984,427 I742T possibly damaging Het
Frem1 A G 4: 82,959,389 V223A possibly damaging Het
Fzd10 T A 5: 128,601,528 I104N probably damaging Het
Greb1 A G 12: 16,711,961 S473P probably damaging Het
Gtf2i T C 5: 134,242,748 Y873C probably damaging Het
Igsf6 T A 7: 121,070,653 K89* probably null Het
Ints3 A G 3: 90,406,329 F331L probably damaging Het
Kcnh3 A T 15: 99,242,473 H1080L possibly damaging Het
Mettl15 A T 2: 109,093,176 Y300* probably null Het
Mms19 A G 19: 41,948,233 F654L probably benign Het
Myc A G 15: 61,989,820 H425R probably benign Het
Ntn1 G T 11: 68,226,619 probably benign Het
Ormdl2 C A 10: 128,820,075 G69W probably damaging Het
Pdpr T C 8: 111,102,072 V69A possibly damaging Het
Rbbp6 T C 7: 122,988,685 I254T probably damaging Het
Sema6d A G 2: 124,659,865 R543G possibly damaging Het
Slc22a26 A G 19: 7,782,836 L514P probably damaging Het
Slc22a28 A C 19: 8,130,203 S167A possibly damaging Het
Tchh A G 3: 93,445,299 E682G unknown Het
Thbs2 A T 17: 14,668,835 M1134K probably damaging Het
Tmem26 A G 10: 68,775,354 S218G probably damaging Het
Tmprss11c A T 5: 86,239,395 S208R probably benign Het
Tnfrsf8 T C 4: 145,292,591 probably null Het
Ush2a T C 1: 188,864,678 S3872P probably benign Het
Vmn1r69 T C 7: 10,579,952 N205S probably benign Het
Vmn2r54 T A 7: 12,631,913 probably benign Het
Wwtr1 A T 3: 57,463,521 M328K possibly damaging Het
Zfp64 G A 2: 168,926,681 S337L probably benign Het
Other mutations in Slc18a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Slc18a1 APN 8 69073731 missense probably benign 0.00
IGL01568:Slc18a1 APN 8 69065626 missense probably damaging 1.00
IGL02199:Slc18a1 APN 8 69043980 missense probably benign 0.03
IGL03011:Slc18a1 APN 8 69038863 missense probably benign
IGL03260:Slc18a1 APN 8 69075114 missense probably benign 0.24
R0349:Slc18a1 UTSW 8 69072101 missense probably damaging 1.00
R1019:Slc18a1 UTSW 8 69075033 critical splice donor site probably null
R1759:Slc18a1 UTSW 8 69065585 missense possibly damaging 0.95
R1928:Slc18a1 UTSW 8 69073812 missense probably benign 0.00
R2058:Slc18a1 UTSW 8 69043961 missense probably damaging 1.00
R4652:Slc18a1 UTSW 8 69043931 missense possibly damaging 0.71
R4724:Slc18a1 UTSW 8 69073649 nonsense probably null
R4818:Slc18a1 UTSW 8 69040299 missense probably damaging 0.99
R6799:Slc18a1 UTSW 8 69040981 missense probably benign 0.05
R6989:Slc18a1 UTSW 8 69038862 missense probably benign 0.01
R7557:Slc18a1 UTSW 8 69065561 missense probably damaging 1.00
Posted On2011-07-12