Incidental Mutation 'R3811:Slc32a1'
ID |
275188 |
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 |
040767-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3811 (G1)
|
Quality Score |
153 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158452687-158457668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 158456656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 437
(C437F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045738]
|
AlphaFold |
O35633 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045738
AA Change: C437F
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000036299 Gene: ENSMUSG00000037771 AA Change: C437F
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
|
Meta Mutation Damage Score |
0.1875 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
97% (36/37) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
|
Other mutations in Slc32a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0993:Slc32a1
|
UTSW |
2 |
158,453,340 (GRCm39) |
missense |
possibly damaging |
0.57 |
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 |
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'- TCATCACGGATAACCTGCCC -3'
(R):5'- AGACCCTCGAGTGAATGCAC -3'
Sequencing Primer
(F):5'- GATAACCTGCCCGGCTCCATC -3'
(R):5'- CGATGACGAAGATGGCCACATC -3'
|
Posted On |
2015-04-02 |