Incidental Mutation 'IGL00661:Slc18a1'
ID |
14048 |
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)
|
Stock # |
IGL00661
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
69490363-69541887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69526383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 102
(W102R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037478]
[ENSMUST00000148856]
|
AlphaFold |
Q8R090 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037478
AA Change: W102R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000046924 Gene: ENSMUSG00000036330 AA Change: W102R
Domain | Start | End | E-Value | Type |
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,430,263 (GRCm39) |
V242A |
possibly damaging |
Het |
Antxr2 |
T |
C |
5: 98,152,155 (GRCm39) |
D152G |
probably benign |
Het |
Blmh |
A |
T |
11: 76,856,758 (GRCm39) |
K118* |
probably null |
Het |
Bnip3 |
G |
A |
7: 138,499,801 (GRCm39) |
P62L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,554,357 (GRCm39) |
T684S |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,209 (GRCm39) |
K894N |
possibly damaging |
Het |
Chkb |
T |
A |
15: 89,311,794 (GRCm39) |
R133S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,507,579 (GRCm39) |
N803S |
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,956,668 (GRCm39) |
D276V |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,822,908 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,462,965 (GRCm39) |
V70M |
probably benign |
Het |
Leprot |
T |
C |
4: 101,509,673 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,546 (GRCm39) |
A315V |
probably benign |
Het |
Lrrn4 |
C |
T |
2: 132,712,588 (GRCm39) |
V412I |
probably benign |
Het |
Macrod2 |
G |
A |
2: 140,261,824 (GRCm39) |
|
probably null |
Het |
Mmaa |
G |
A |
8: 80,008,199 (GRCm39) |
R13C |
probably damaging |
Het |
Plpp4 |
T |
A |
7: 128,918,023 (GRCm39) |
I66N |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,205,359 (GRCm39) |
V108A |
probably benign |
Het |
Prss1 |
G |
T |
6: 41,439,553 (GRCm39) |
K95N |
possibly damaging |
Het |
Rasa2 |
C |
T |
9: 96,459,606 (GRCm39) |
|
probably benign |
Het |
Relb |
A |
G |
7: 19,350,336 (GRCm39) |
V208A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,555,806 (GRCm39) |
S178P |
probably damaging |
Het |
Slc39a8 |
A |
C |
3: 135,563,873 (GRCm39) |
K239N |
probably benign |
Het |
Stap1 |
A |
G |
5: 86,229,132 (GRCm39) |
H100R |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,889,918 (GRCm39) |
V143E |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,455 (GRCm39) |
V206A |
probably benign |
Het |
Trim16 |
T |
A |
11: 62,728,058 (GRCm39) |
|
probably benign |
Het |
Ube2b |
C |
T |
11: 51,891,119 (GRCm39) |
|
probably null |
Het |
Vmn1r223 |
T |
C |
13: 23,434,254 (GRCm39) |
S283P |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,809,173 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc18a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Slc18a1
|
APN |
8 |
69,503,998 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2012-12-06 |