Incidental Mutation 'R1019:Slc18a1'
| ID |
96758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc18a1
|
| Ensembl Gene |
ENSMUSG00000036330 |
| Gene Name |
solute carrier family 18 (vesicular monoamine), member 1 |
| Synonyms |
4832416I10Rik |
| MMRRC Submission |
039123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1019 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
69490363-69541887 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 69527685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037478]
[ENSMUST00000148856]
|
| AlphaFold |
Q8R090 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037478
|
| SMART Domains |
Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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 |
|---|
| 6430548M08Rik |
G |
C |
8: 120,872,209 (GRCm39) |
E46Q |
probably damaging |
Het |
| 9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
| A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
| Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
| Adam10 |
A |
G |
9: 70,668,922 (GRCm39) |
N413D |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,524,072 (GRCm39) |
A196V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
| Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
| Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
| Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
| Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,628,903 (GRCm39) |
V55A |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,937,852 (GRCm39) |
F3I |
possibly damaging |
Het |
| Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
| Slc37a1 |
A |
G |
17: 31,534,568 (GRCm39) |
N80S |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
| Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
| Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
| Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
| Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
| Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
| Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATGTCTGCCAAGAAGAGGCTG -3'
(R):5'- CTGCCCTTTCTCCTGTAAAGGTGAC -3'
Sequencing Primer
(F):5'- GGAGTCATTAGTCTCAAGTCTGACAG -3'
(R):5'- TTCTCCTGTAAAGGTGACAGAAGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation