Incidental Mutation 'R0993:Slc32a1'
| ID |
97828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc32a1
|
| Ensembl Gene |
ENSMUSG00000037771 |
| Gene Name |
solute carrier family 32 (GABA vesicular transporter), member 1 |
| Synonyms |
Viaat, VGAT, R75019 |
| MMRRC Submission |
039113-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0993 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158452687-158457668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158453340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 60
(M60T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045738]
|
| AlphaFold |
O35633 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045738
AA Change: M60T
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: M60T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
114 |
513 |
9.4e-102 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155319
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Eml5 |
T |
C |
12: 98,827,442 (GRCm39) |
E596G |
probably benign |
Het |
| Eri3 |
C |
A |
4: 117,421,860 (GRCm39) |
T46K |
possibly damaging |
Het |
| Etv1 |
C |
T |
12: 38,877,863 (GRCm39) |
P68S |
probably damaging |
Het |
| Fbxl8 |
C |
A |
8: 105,993,717 (GRCm39) |
D24E |
probably damaging |
Het |
| Gm19965 |
A |
T |
1: 116,749,555 (GRCm39) |
N412I |
probably benign |
Het |
| Lmbr1 |
T |
A |
5: 29,492,391 (GRCm39) |
H66L |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or8j3b |
T |
G |
2: 86,205,222 (GRCm39) |
Y178S |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,563 (GRCm39) |
V173D |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,539,406 (GRCm39) |
T365S |
probably damaging |
Het |
| Slx4 |
T |
C |
16: 3,803,689 (GRCm39) |
S1042G |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,650 (GRCm39) |
L193P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,549,825 (GRCm39) |
K529E |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,844,262 (GRCm39) |
R1342* |
probably null |
Het |
|
| Other mutations in Slc32a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1368:Slc32a1
|
UTSW |
2 |
158,453,240 (GRCm39) |
missense |
probably benign |
|
|
R1519:Slc32a1
|
UTSW |
2 |
158,456,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1632:Slc32a1
|
UTSW |
2 |
158,455,810 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1653:Slc32a1
|
UTSW |
2 |
158,456,809 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1822:Slc32a1
|
UTSW |
2 |
158,453,298 (GRCm39) |
missense |
probably benign |
|
|
R1957:Slc32a1
|
UTSW |
2 |
158,455,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Slc32a1
|
UTSW |
2 |
158,456,656 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3914:Slc32a1
|
UTSW |
2 |
158,453,152 (GRCm39) |
start gained |
probably benign |
|
|
R3949:Slc32a1
|
UTSW |
2 |
158,453,152 (GRCm39) |
start gained |
probably benign |
|
|
R4021:Slc32a1
|
UTSW |
2 |
158,453,152 (GRCm39) |
start gained |
probably benign |
|
|
R4850:Slc32a1
|
UTSW |
2 |
158,456,112 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4953:Slc32a1
|
UTSW |
2 |
158,455,977 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5292:Slc32a1
|
UTSW |
2 |
158,453,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5510:Slc32a1
|
UTSW |
2 |
158,456,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Slc32a1
|
UTSW |
2 |
158,453,457 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7072:Slc32a1
|
UTSW |
2 |
158,453,416 (GRCm39) |
nonsense |
probably null |
|
|
R7170:Slc32a1
|
UTSW |
2 |
158,453,243 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7350:Slc32a1
|
UTSW |
2 |
158,456,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Slc32a1
|
UTSW |
2 |
158,456,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Slc32a1
|
UTSW |
2 |
158,455,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Slc32a1
|
UTSW |
2 |
158,453,274 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9374:Slc32a1
|
UTSW |
2 |
158,455,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Slc32a1
|
UTSW |
2 |
158,456,241 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0067:Slc32a1
|
UTSW |
2 |
158,455,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGCAGTCCTCGCTGCCTTG -3'
(R):5'- CCTGAATGGCATTTGTCACGTTCC -3'
Sequencing Primer
(F):5'- GCGTCCCCAGACCCTTC -3'
(R):5'- TGTCACGTTCCAGCCCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation