Incidental Mutation 'R6989:Slc18a1'
ID 543146
Institutional Source Beutler Lab
Gene Symbol Slc18a1
Ensembl Gene ENSMUSG00000036330
Gene Name solute carrier family 18 (vesicular monoamine), member 1
Synonyms 4832416I10Rik
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 69490363-69541887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69491514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 500 (T500I)
Ref Sequence ENSEMBL: ENSMUSP00000046924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037478]
AlphaFold Q8R090
Predicted Effect probably benign
Transcript: ENSMUST00000037478
AA Change: T500I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: T500I

DomainStartEndE-ValueType
Pfam:MFS_1 24 430 3.7e-34 PFAM
Pfam:MFS_1 302 508 9e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign 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
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'- AGTGAGACCCATTGAATCTGTG -3'
(R):5'- CAGATGTTTGCCCTGGCTAG -3'

Sequencing Primer
(F):5'- GACCCATTGAATCTGTGATGATCTG -3'
(R):5'- CTAGGCTTGATATGCCCAGGTAC -3'
Posted On 2018-11-28