Incidental Mutation 'R3914:Slc32a1'
ID |
309548 |
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 |
040912-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3914 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158452687-158457668 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to T
at 158453152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045738]
|
AlphaFold |
O35633 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045738
|
SMART Domains |
Protein: ENSMUSP00000036299 Gene: ENSMUSG00000037771
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
Ccdc174 |
G |
T |
6: 91,876,338 (GRCm39) |
A392S |
possibly damaging |
Het |
Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Exoc1 |
G |
A |
5: 76,691,408 (GRCm39) |
S244N |
possibly damaging |
Het |
Fam234b |
A |
G |
6: 135,202,681 (GRCm39) |
D345G |
probably damaging |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
Islr2 |
A |
T |
9: 58,105,666 (GRCm39) |
Y531* |
probably null |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
Rabl6 |
T |
C |
2: 25,478,718 (GRCm39) |
T238A |
possibly damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
Slc26a3 |
A |
T |
12: 31,503,905 (GRCm39) |
E303D |
probably benign |
Het |
Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly damaging |
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 |
R3811:Slc32a1
|
UTSW |
2 |
158,456,656 (GRCm39) |
missense |
possibly damaging |
0.68 |
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'- AAGAGCCAGACTGTCGTGAC -3'
(R):5'- CTGATAATGAATGTCTCCCTCGACG -3'
Sequencing Primer
(F):5'- AGACTGTCGTGACCGGGG -3'
(R):5'- CGATTTCAGGATGTCCATCTGCAG -3'
|
Posted On |
2015-04-17 |