Incidental Mutation 'R8146:Slc18a1'
ID 632811
Institutional Source Beutler Lab
Gene Symbol Slc18a1
Ensembl Gene ENSMUSG00000036330
Gene Name solute carrier family 18 (vesicular monoamine), member 1
Synonyms 4832416I10Rik
MMRRC Submission 067574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8146 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 69490363-69541887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69495401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 368 (V368F)
Ref Sequence ENSEMBL: ENSMUSP00000046924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037478]
AlphaFold Q8R090
Predicted Effect possibly damaging
Transcript: ENSMUST00000037478
AA Change: V368F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: V368F

DomainStartEndE-ValueType
Pfam:MFS_1 24 430 3.7e-34 PFAM
Pfam:MFS_1 302 508 9e-17 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 95.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T G 2: 19,498,814 (GRCm39) E393A possibly damaging Het
4930550C14Rik A G 9: 53,334,270 (GRCm39) D171G probably damaging Het
Abca13 T C 11: 9,347,829 (GRCm39) Y3561H probably damaging Het
Adgra2 T A 8: 27,604,202 (GRCm39) V464D probably damaging Het
Adgrl1 C A 8: 84,657,618 (GRCm39) T408N possibly damaging Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Anks6 C A 4: 47,043,605 (GRCm39) A375S unknown Het
Bbs10 T A 10: 111,136,396 (GRCm39) I503K probably benign Het
Birc2 A G 9: 7,818,797 (GRCm39) I598T probably damaging Het
Cbl A T 9: 44,076,171 (GRCm39) D339E probably damaging Het
Cdh4 C A 2: 179,515,871 (GRCm39) Q350K possibly damaging Het
Cep78 A G 19: 15,933,727 (GRCm39) L617P probably damaging Het
Cnbd2 T G 2: 156,170,281 (GRCm39) V122G probably damaging Het
Crem A T 18: 3,288,007 (GRCm39) N158K possibly damaging Het
Cul1 T C 6: 47,472,027 (GRCm39) V56A possibly damaging Het
Dop1b T A 16: 93,546,827 (GRCm39) I277N possibly damaging Het
Exoc3 T C 13: 74,340,784 (GRCm39) D340G probably benign Het
Exoc6b A C 6: 84,885,176 (GRCm39) D254E probably benign Het
Fyttd1 A G 16: 32,722,862 (GRCm39) K268E probably damaging Het
Gbp8 T A 5: 105,178,844 (GRCm39) N157I probably benign Het
Hacd1 T A 2: 14,049,605 (GRCm39) S118C probably damaging Het
Hcn4 A C 9: 58,731,027 (GRCm39) E78A unknown Het
Inpp5e T A 2: 26,289,274 (GRCm39) T549S probably benign Het
Kcnh4 T C 11: 100,646,105 (GRCm39) N281S probably damaging Het
Kdm5b A G 1: 134,552,864 (GRCm39) D1280G probably benign Het
Lrfn3 A G 7: 30,059,304 (GRCm39) V307A probably benign Het
Mafb A G 2: 160,208,298 (GRCm39) L100P probably damaging Het
Med24 C T 11: 98,608,940 (GRCm39) G119R probably benign Het
Mvp G T 7: 126,586,171 (GRCm39) P866Q probably benign Het
Or51l4 A G 7: 103,404,510 (GRCm39) I94T probably damaging Het
Phykpl T C 11: 51,476,408 (GRCm39) Y43H probably damaging Het
Prag1 T G 8: 36,571,364 (GRCm39) L649R probably damaging Het
Ptgdr2 T C 19: 10,918,361 (GRCm39) F293L probably damaging Het
Rasip1 T G 7: 45,279,704 (GRCm39) S316A possibly damaging Het
Rlf G A 4: 121,004,429 (GRCm39) S1627L probably benign Het
Rtl1 T C 12: 109,557,145 (GRCm39) R1565G probably benign Het
Sart3 G A 5: 113,886,018 (GRCm39) T572M probably damaging Het
Sec24b G T 3: 129,789,573 (GRCm39) S816* probably null Het
Slamf1 C T 1: 171,619,887 (GRCm39) P279L probably benign Het
Tap1 A T 17: 34,408,206 (GRCm39) D194V probably damaging Het
Tuba1c A G 15: 98,935,496 (GRCm39) Y319C probably damaging Het
Unc79 T A 12: 103,036,416 (GRCm39) I579N probably damaging Het
Zbtb22 G T 17: 34,135,956 (GRCm39) V34L 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCATCTCCTTAGGCACC -3'
(R):5'- CAACACTGCATGAGAAGAGCTG -3'

Sequencing Primer
(F):5'- GGCACCAATTTCTGATCATGTAGG -3'
(R):5'- GGAATTCAATCTAGTCCTGCAGAG -3'
Posted On 2020-06-30