Incidental Mutation 'R4724:Slc18a1'
ID 354687
Institutional Source Beutler Lab
Gene Symbol Slc18a1
Ensembl Gene ENSMUSG00000036330
Gene Name solute carrier family 18 (vesicular monoamine), member 1
Synonyms 4832416I10Rik
MMRRC Submission 041988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4724 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 69490363-69541887 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 69526301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 129 (L129*)
Ref Sequence ENSEMBL: ENSMUSP00000046924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037478] [ENSMUST00000148856]
AlphaFold Q8R090
Predicted Effect probably null
Transcript: ENSMUST00000037478
AA Change: L129*
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: L129*

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C G 3: 89,960,848 (GRCm39) Q34E probably damaging Het
4933434E20Rik G T 3: 89,960,890 (GRCm39) V48F probably damaging Het
4933434E20Rik A T 3: 89,960,849 (GRCm39) Q34L probably damaging Het
Abra T C 15: 41,729,302 (GRCm39) D366G probably damaging Het
Acvr2a T C 2: 48,760,447 (GRCm39) S68P probably damaging Het
Adam28 T A 14: 68,864,326 (GRCm39) R492S probably damaging Het
Adamts1 T A 16: 85,599,393 (GRCm39) E69V probably benign Het
Adgra1 A T 7: 139,455,505 (GRCm39) M378L probably benign Het
Adgra2 T A 8: 27,588,850 (GRCm39) N101K possibly damaging Het
Adhfe1 T A 1: 9,646,475 (GRCm39) F449L probably damaging Het
Akap6 T A 12: 52,842,668 (GRCm39) S5R possibly damaging Het
Akap9 G A 5: 4,105,339 (GRCm39) R2883Q probably benign Het
Ank3 T A 10: 69,542,688 (GRCm39) I16N probably benign Het
Api5 A T 2: 94,253,816 (GRCm39) F296I possibly damaging Het
Ceacam14 G T 7: 17,547,975 (GRCm39) probably null Het
Cep295 C T 9: 15,242,128 (GRCm39) G1768S probably damaging Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cp C A 3: 20,026,811 (GRCm39) T413K probably benign Het
Ctdsp2 T G 10: 126,828,938 (GRCm39) V104G probably damaging Het
Ctrc T A 4: 141,573,607 (GRCm39) probably null Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dctn1 T A 6: 83,166,920 (GRCm39) M257K possibly damaging Het
Depp1 T A 6: 116,629,096 (GRCm39) C146* probably null Het
Dlgap5 C T 14: 47,638,977 (GRCm39) probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Exoc8 A G 8: 125,623,989 (GRCm39) V126A probably benign Het
Fam185a T A 5: 21,660,785 (GRCm39) S267T probably damaging Het
Fhod1 T C 8: 106,064,493 (GRCm39) probably benign Het
Fn1 T C 1: 71,687,307 (GRCm39) probably null Het
Gadl1 A T 9: 115,783,685 (GRCm39) T214S possibly damaging Het
Gem G T 4: 11,706,074 (GRCm39) R54L probably damaging Het
Ghr A G 15: 3,355,422 (GRCm39) V287A probably benign Het
Gm3642 G A 14: 18,212,879 (GRCm39) T215I probably benign Het
Grip1 T A 10: 119,874,588 (GRCm39) I732K probably benign Het
Gtpbp2 A T 17: 46,478,147 (GRCm39) probably null Het
Heatr6 C T 11: 83,670,374 (GRCm39) R976* probably null Het
Hipk2 T A 6: 38,675,327 (GRCm39) T1084S probably benign Het
Hmcn1 T C 1: 150,570,584 (GRCm39) probably null Het
Hspg2 T A 4: 137,249,438 (GRCm39) M1328K probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Ighv1-64 A G 12: 115,471,466 (GRCm39) V17A probably benign Het
Iqgap2 G T 13: 95,772,005 (GRCm39) N1391K possibly damaging Het
Irf7 A T 7: 140,844,648 (GRCm39) L148Q possibly damaging Het
Kat6b G A 14: 21,711,030 (GRCm39) R768K probably benign Het
Lepr G A 4: 101,622,562 (GRCm39) W447* probably null Het
Letmd1 A G 15: 100,367,619 (GRCm39) Y59C probably damaging Het
Lingo4 A T 3: 94,310,183 (GRCm39) K374* probably null Het
Loxl4 G T 19: 42,596,785 (GRCm39) D62E probably benign Het
Lrfn2 A G 17: 49,377,462 (GRCm39) D181G probably damaging Het
Lrrc71 A T 3: 87,646,481 (GRCm39) F526L probably damaging Het
Ltbp1 A T 17: 75,620,003 (GRCm39) M711L probably damaging Het
Mcm7 A T 5: 138,167,387 (GRCm39) D78E probably damaging Het
Mdh1 T C 11: 21,512,957 (GRCm39) N136D probably damaging Het
Meltf T A 16: 31,711,323 (GRCm39) N515K probably benign Het
Mis18bp1 T A 12: 65,205,513 (GRCm39) T220S probably benign Het
Mtss1 C T 15: 58,953,367 (GRCm39) V4M probably damaging Het
Nacc2 A T 2: 25,980,185 (GRCm39) F84I probably damaging Het
Nedd9 A G 13: 41,470,073 (GRCm39) V360A possibly damaging Het
Nek11 T A 9: 105,270,169 (GRCm39) I18F possibly damaging Het
Nkd2 C T 13: 73,995,124 (GRCm39) V13M probably damaging Het
Nkx6-3 A G 8: 23,646,285 (GRCm39) I152V probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Oprm1 A T 10: 6,708,656 (GRCm39) R16* probably null Het
Or1e16 A T 11: 73,285,981 (GRCm39) I289N probably damaging Het
Or51b4 A G 7: 103,530,856 (GRCm39) V198A probably benign Het
Or5an1 T C 19: 12,260,460 (GRCm39) L16P probably damaging Het
Or5p69 T A 7: 107,967,205 (GRCm39) F169L probably benign Het
Or6d15 T C 6: 116,559,898 (GRCm39) N3S probably damaging Het
Or7a36 A G 10: 78,820,356 (GRCm39) H244R probably damaging Het
Ostf1 G A 19: 18,571,231 (GRCm39) P62L probably damaging Het
Pcdha2 A T 18: 37,073,568 (GRCm39) T400S possibly damaging Het
Pcdha5 A T 18: 37,094,549 (GRCm39) T353S possibly damaging Het
Pelo A G 13: 115,225,271 (GRCm39) F318S probably damaging Het
Polr2f T C 15: 79,030,269 (GRCm39) V36A probably benign Het
Ppan G A 9: 20,799,806 (GRCm39) R41H probably benign Het
Ppp1r21 C T 17: 88,863,019 (GRCm39) R253* probably null Het
Prf1 T A 10: 61,139,487 (GRCm39) W482R probably damaging Het
Ralgapa2 T C 2: 146,187,453 (GRCm39) T1397A possibly damaging Het
Rev3l T A 10: 39,722,802 (GRCm39) Y2598* probably null Het
Scaf11 G T 15: 96,312,729 (GRCm39) D1437E probably benign Het
Sec23a C T 12: 59,025,292 (GRCm39) G510R probably damaging Het
Sel1l2 A G 2: 140,082,847 (GRCm39) M597T probably damaging Het
Slc11a2 A T 15: 100,304,219 (GRCm39) S160T possibly damaging Het
Smg8 A C 11: 86,977,047 (GRCm39) L178R probably benign Het
Sp4 T C 12: 118,225,544 (GRCm39) T607A probably benign Het
Ssbp2 A G 13: 91,836,933 (GRCm39) D266G possibly damaging Het
Sstr3 A T 15: 78,423,897 (GRCm39) Y283* probably null Het
Stk32b C T 5: 37,612,278 (GRCm39) probably null Het
Svep1 T C 4: 58,070,752 (GRCm39) T2345A possibly damaging Het
Synpo2 A G 3: 122,907,940 (GRCm39) S459P probably damaging Het
Sytl2 A G 7: 89,998,000 (GRCm39) M1V probably null Het
Tas2r102 T A 6: 132,739,520 (GRCm39) W143R probably damaging Het
Thy1 T C 9: 43,958,645 (GRCm39) V129A probably damaging Het
Tlr2 A T 3: 83,745,492 (GRCm39) I197N probably damaging Het
Tmem101 A G 11: 102,044,269 (GRCm39) I206T probably benign Het
Tmem108 A G 9: 103,376,688 (GRCm39) S254P possibly damaging Het
Tmem198b T C 10: 128,637,350 (GRCm39) Q263R probably damaging Het
Vangl1 T C 3: 102,091,870 (GRCm39) D72G probably damaging Het
Vmn1r4 T A 6: 56,934,349 (GRCm39) D284E probably benign Het
Vmn2r31 G A 7: 7,387,757 (GRCm39) L605F possibly damaging Het
Zfand4 T C 6: 116,250,780 (GRCm39) V70A probably damaging Het
Zfp54 A G 17: 21,653,665 (GRCm39) E53G probably damaging Het
Zfp541 A T 7: 15,815,612 (GRCm39) I805F probably damaging Het
Zfp976 T C 7: 42,262,457 (GRCm39) H460R possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGTCTGTACTTTGTGGATGGGACA -3'
(R):5'- CCAGCAAGCTCTCACCTCT -3'

Sequencing Primer
(F):5'- TGAAGGTCCTGAGTTCAAATCCCAG -3'
(R):5'- AAGCTCTCACCTCTCCTGC -3'
Posted On 2015-10-21