Incidental Mutation 'IGL01155:Slc6a1'
ID |
51403 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc6a1
|
Ensembl Gene |
ENSMUSG00000030310 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter, GABA), member 1 |
Synonyms |
Gabt, Gat1, GAT-1, XT-1, Gabt1, Xtrp1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
IGL01155
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to T
at 114291426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032454]
[ENSMUST00000204074]
|
AlphaFold |
P31648 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032454
|
SMART Domains |
Protein: ENSMUSP00000032454 Gene: ENSMUSG00000030310
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000204074
|
SMART Domains |
Protein: ENSMUSP00000145080 Gene: ENSMUSG00000030310
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
375 |
1.2e-162 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204278
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204540
|
Coding Region Coverage |
|
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 a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017] PHENOTYPE: Homozygous hypomorphic mice display abnormal inhibitory postsynaptic currents, and abnormal GABA uptake and release. Null mice show hyperactivity and various behavioral abnormalities, as well as an aversion to bitter taste. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adgrl3 |
T |
A |
5: 81,708,740 (GRCm39) |
I409N |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,219,684 (GRCm39) |
D29G |
probably damaging |
Het |
Ap4e1 |
C |
A |
2: 126,885,365 (GRCm39) |
T322K |
probably damaging |
Het |
Arfgef1 |
G |
A |
1: 10,269,207 (GRCm39) |
|
probably benign |
Het |
Asic5 |
A |
G |
3: 81,915,895 (GRCm39) |
T282A |
probably benign |
Het |
Bptf |
T |
C |
11: 106,971,553 (GRCm39) |
T985A |
probably damaging |
Het |
Btnl9 |
A |
G |
11: 49,066,518 (GRCm39) |
F349L |
probably damaging |
Het |
Bves |
T |
A |
10: 45,229,955 (GRCm39) |
I253K |
probably damaging |
Het |
Cars1 |
T |
A |
7: 143,123,586 (GRCm39) |
Y455F |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cuedc2 |
C |
A |
19: 46,321,088 (GRCm39) |
V15F |
probably damaging |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Fat1 |
G |
A |
8: 45,476,986 (GRCm39) |
A2011T |
probably damaging |
Het |
Fyb2 |
C |
T |
4: 104,856,583 (GRCm39) |
T533I |
probably benign |
Het |
Gm1043 |
T |
C |
5: 37,344,433 (GRCm39) |
L182P |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,752,201 (GRCm39) |
V1295E |
possibly damaging |
Het |
Il12b |
T |
A |
11: 44,294,915 (GRCm39) |
S18T |
probably benign |
Het |
Iqcg |
A |
G |
16: 32,861,245 (GRCm39) |
V157A |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,744,207 (GRCm39) |
M937K |
probably benign |
Het |
Large1 |
T |
C |
8: 73,858,617 (GRCm39) |
S84G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,660,947 (GRCm39) |
T54A |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,596,985 (GRCm39) |
M148V |
probably damaging |
Het |
Mobp |
C |
A |
9: 119,997,300 (GRCm39) |
T73K |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,607,019 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,360,680 (GRCm39) |
|
probably benign |
Het |
Mzt2 |
A |
C |
16: 15,680,274 (GRCm39) |
S104A |
possibly damaging |
Het |
Naa16 |
T |
A |
14: 79,622,155 (GRCm39) |
K27N |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,083,991 (GRCm39) |
I1267N |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,491 (GRCm39) |
I43N |
probably benign |
Het |
Rara |
A |
G |
11: 98,859,010 (GRCm39) |
E153G |
possibly damaging |
Het |
Scn2a |
T |
G |
2: 65,548,092 (GRCm39) |
S66A |
probably damaging |
Het |
Sorbs3 |
A |
G |
14: 70,436,790 (GRCm39) |
V136A |
probably damaging |
Het |
Spink5 |
T |
A |
18: 44,114,214 (GRCm39) |
H143Q |
probably benign |
Het |
Susd2 |
G |
A |
10: 75,476,726 (GRCm39) |
T99I |
possibly damaging |
Het |
T |
C |
T |
17: 8,660,577 (GRCm39) |
|
probably null |
Het |
Tac2 |
G |
A |
10: 127,562,003 (GRCm39) |
|
probably null |
Het |
Tfap4 |
G |
T |
16: 4,365,223 (GRCm39) |
P180T |
probably damaging |
Het |
Trap1 |
G |
A |
16: 3,861,842 (GRCm39) |
Q641* |
probably null |
Het |
Unc119 |
A |
G |
11: 78,239,435 (GRCm39) |
N252S |
probably damaging |
Het |
|
Other mutations in Slc6a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01604:Slc6a1
|
APN |
6 |
114,291,362 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02004:Slc6a1
|
APN |
6 |
114,291,286 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02437:Slc6a1
|
APN |
6 |
114,285,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02553:Slc6a1
|
APN |
6 |
114,279,451 (GRCm39) |
intron |
probably benign |
|
lewis
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
phytotoxin
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
sponges
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
BB008:Slc6a1
|
UTSW |
6 |
114,288,863 (GRCm39) |
missense |
probably benign |
0.00 |
BB010:Slc6a1
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
BB018:Slc6a1
|
UTSW |
6 |
114,288,863 (GRCm39) |
missense |
probably benign |
0.00 |
BB020:Slc6a1
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R0178:Slc6a1
|
UTSW |
6 |
114,281,813 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0238:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
R0238:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
R0239:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
R0239:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
R0408:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
R1165:Slc6a1
|
UTSW |
6 |
114,288,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1451:Slc6a1
|
UTSW |
6 |
114,284,756 (GRCm39) |
nonsense |
probably null |
|
R1535:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1568:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Slc6a1
|
UTSW |
6 |
114,288,815 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2011:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Slc6a1
|
UTSW |
6 |
114,278,977 (GRCm39) |
missense |
probably benign |
|
R2139:Slc6a1
|
UTSW |
6 |
114,281,022 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2152:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R2207:Slc6a1
|
UTSW |
6 |
114,285,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Slc6a1
|
UTSW |
6 |
114,285,067 (GRCm39) |
missense |
probably benign |
|
R4690:Slc6a1
|
UTSW |
6 |
114,279,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R4706:Slc6a1
|
UTSW |
6 |
114,284,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4886:Slc6a1
|
UTSW |
6 |
114,279,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4974:Slc6a1
|
UTSW |
6 |
114,284,662 (GRCm39) |
missense |
probably damaging |
0.97 |
R5219:Slc6a1
|
UTSW |
6 |
114,287,182 (GRCm39) |
missense |
probably benign |
0.18 |
R5354:Slc6a1
|
UTSW |
6 |
114,279,584 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5361:Slc6a1
|
UTSW |
6 |
114,279,493 (GRCm39) |
missense |
probably benign |
0.00 |
R6448:Slc6a1
|
UTSW |
6 |
114,279,047 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6678:Slc6a1
|
UTSW |
6 |
114,284,737 (GRCm39) |
missense |
probably benign |
0.00 |
R6941:Slc6a1
|
UTSW |
6 |
114,290,473 (GRCm39) |
nonsense |
probably null |
|
R7347:Slc6a1
|
UTSW |
6 |
114,288,779 (GRCm39) |
missense |
probably damaging |
0.99 |
R7811:Slc6a1
|
UTSW |
6 |
114,279,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R7931:Slc6a1
|
UTSW |
6 |
114,288,863 (GRCm39) |
missense |
probably benign |
0.00 |
R7933:Slc6a1
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R9143:Slc6a1
|
UTSW |
6 |
114,292,503 (GRCm39) |
utr 3 prime |
probably benign |
|
R9256:Slc6a1
|
UTSW |
6 |
114,287,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9358:Slc6a1
|
UTSW |
6 |
114,291,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Slc6a1
|
UTSW |
6 |
114,280,974 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Posted On |
2013-06-21 |