Incidental Mutation 'R5292:Slc32a1'
ID |
405181 |
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 |
042875-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5292 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
158452687-158457668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 158453307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045738]
|
AlphaFold |
O35633 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045738
AA Change: D49G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000036299 Gene: ENSMUSG00000037771 AA Change: D49G
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,354,467 (GRCm39) |
V641A |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,055,912 (GRCm39) |
M1465L |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,407,933 (GRCm39) |
|
probably null |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,842,185 (GRCm39) |
Y433C |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,268,358 (GRCm39) |
T154A |
possibly damaging |
Het |
Dcc |
T |
C |
18: 71,439,159 (GRCm39) |
Y1241C |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,510,376 (GRCm39) |
V296A |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,873,685 (GRCm39) |
S270P |
probably damaging |
Het |
Gcm1 |
T |
C |
9: 77,968,708 (GRCm39) |
F136S |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,053,237 (GRCm39) |
|
probably null |
Het |
Gm5174 |
G |
T |
10: 86,492,562 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
A |
G |
12: 108,294,037 (GRCm39) |
T648A |
probably benign |
Het |
Hr |
C |
A |
14: 70,809,432 (GRCm39) |
Q1177K |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,239,199 (GRCm39) |
S3146P |
unknown |
Het |
Igkv10-94 |
C |
T |
6: 68,681,582 (GRCm39) |
G86E |
probably damaging |
Het |
Krt80 |
G |
A |
15: 101,250,066 (GRCm39) |
R222W |
probably damaging |
Het |
Lrch3 |
T |
C |
16: 32,796,177 (GRCm39) |
Y354H |
probably damaging |
Het |
Or10g1 |
A |
T |
14: 52,647,902 (GRCm39) |
N142K |
possibly damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,877 (GRCm39) |
F254Y |
probably damaging |
Het |
Or5w1b |
T |
A |
2: 87,476,339 (GRCm39) |
N43Y |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,958,779 (GRCm39) |
D932G |
probably benign |
Het |
Pakap |
T |
G |
4: 57,855,356 (GRCm39) |
S471R |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,393 (GRCm39) |
E368G |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,711,259 (GRCm39) |
D1321V |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,392,962 (GRCm39) |
I1766F |
probably damaging |
Het |
Polq |
A |
G |
16: 36,881,745 (GRCm39) |
E1303G |
probably damaging |
Het |
Ppie |
A |
G |
4: 123,033,701 (GRCm39) |
Y9H |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,002,581 (GRCm39) |
N1557S |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
Rtn4 |
T |
C |
11: 29,657,924 (GRCm39) |
F577L |
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,432 (GRCm39) |
Y3826C |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,150,453 (GRCm39) |
C167* |
probably null |
Het |
Slc5a1 |
G |
T |
5: 33,315,585 (GRCm39) |
V535F |
probably benign |
Het |
Smoc2 |
A |
G |
17: 14,556,835 (GRCm39) |
K95E |
probably damaging |
Het |
Smok3c |
A |
C |
5: 138,063,446 (GRCm39) |
Q311P |
probably damaging |
Het |
Spink5 |
C |
A |
18: 44,139,521 (GRCm39) |
P628Q |
probably benign |
Het |
Spint4 |
T |
C |
2: 164,542,779 (GRCm39) |
L124S |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,529,626 (GRCm39) |
K1961R |
probably benign |
Het |
Synpo2 |
C |
A |
3: 122,907,709 (GRCm39) |
V536L |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,880,539 (GRCm39) |
K146E |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,275,460 (GRCm39) |
D2245G |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,971,678 (GRCm39) |
S81P |
probably damaging |
Het |
Zfp39 |
T |
C |
11: 58,791,415 (GRCm39) |
T91A |
probably damaging |
Het |
Zfp764l1 |
T |
C |
7: 126,991,659 (GRCm39) |
D97G |
possibly damaging |
Het |
Zfp936 |
T |
A |
7: 42,838,759 (GRCm39) |
Y75* |
probably null |
Het |
Zkscan5 |
G |
T |
5: 145,155,451 (GRCm39) |
C374F |
probably 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 |
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 |
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'- GGCATTTGTCACGTTCCAGC -3'
Sequencing Primer
(F):5'- AGCGGAGATAGCAGTCCTC -3'
(R):5'- GTTTGTCGTGACCCCCGAAC -3'
|
Posted On |
2016-07-22 |