Incidental Mutation 'R1535:Slc6a1'
ID |
166886 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
039574-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R1535 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114284731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 263
(G263V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032454]
[ENSMUST00000204074]
|
AlphaFold |
P31648 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032454
AA Change: G263V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032454 Gene: ENSMUSG00000030310 AA Change: G263V
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204074
AA Change: G79V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000145080 Gene: ENSMUSG00000030310 AA Change: G79V
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: ENSMUST00000204600
|
Meta Mutation Damage Score |
0.9732 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
Validation Efficiency |
100% (75/75) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
C |
1: 120,099,203 (GRCm39) |
S99P |
possibly damaging |
Het |
Abca16 |
T |
A |
7: 120,139,928 (GRCm39) |
I1530N |
probably benign |
Het |
Abcc9 |
T |
G |
6: 142,610,361 (GRCm39) |
Q601P |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,980,631 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
A |
T |
13: 70,939,913 (GRCm39) |
|
probably null |
Het |
Alpk2 |
G |
C |
18: 65,483,275 (GRCm39) |
S244R |
probably benign |
Het |
Aoc1l1 |
T |
C |
6: 48,952,398 (GRCm39) |
F108L |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Bend5 |
C |
A |
4: 111,316,960 (GRCm39) |
D374E |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,397,671 (GRCm39) |
D1014G |
possibly damaging |
Het |
Ccer2 |
G |
T |
7: 28,456,822 (GRCm39) |
G189* |
probably null |
Het |
Ces2h |
A |
G |
8: 105,741,118 (GRCm39) |
T37A |
probably benign |
Het |
Cfap68 |
C |
T |
9: 50,675,307 (GRCm39) |
R40Q |
probably damaging |
Het |
Cmah |
T |
C |
13: 24,623,203 (GRCm39) |
F213L |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,453,122 (GRCm39) |
E390G |
probably benign |
Het |
Coq7 |
C |
T |
7: 118,128,897 (GRCm39) |
R46Q |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,320,451 (GRCm39) |
D136V |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,198,217 (GRCm39) |
L237P |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,998,692 (GRCm39) |
L549P |
unknown |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dis3 |
G |
T |
14: 99,316,862 (GRCm39) |
Q825K |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,982,465 (GRCm39) |
R2568Q |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,538,279 (GRCm39) |
R2312S |
possibly damaging |
Het |
Dock9 |
C |
T |
14: 121,783,476 (GRCm39) |
E2041K |
probably damaging |
Het |
Eci1 |
A |
G |
17: 24,658,064 (GRCm39) |
E282G |
probably benign |
Het |
Egf |
T |
A |
3: 129,484,427 (GRCm39) |
T464S |
probably benign |
Het |
Eif4g3 |
C |
T |
4: 137,824,613 (GRCm39) |
P97S |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,242,944 (GRCm39) |
V1065A |
possibly damaging |
Het |
Ep400 |
G |
T |
5: 110,856,032 (GRCm39) |
|
probably benign |
Het |
Fam13a |
A |
C |
6: 58,916,332 (GRCm39) |
I607S |
probably damaging |
Het |
Fam241b |
A |
G |
10: 61,944,728 (GRCm39) |
S113P |
probably damaging |
Het |
Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
Fnip2 |
C |
A |
3: 79,389,072 (GRCm39) |
C553F |
probably damaging |
Het |
Frmd3 |
G |
T |
4: 73,931,995 (GRCm39) |
|
probably benign |
Het |
Grm4 |
G |
A |
17: 27,653,775 (GRCm39) |
S470L |
probably benign |
Het |
Gucy2e |
T |
A |
11: 69,117,070 (GRCm39) |
I784F |
probably damaging |
Het |
H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,310,419 (GRCm39) |
T3338S |
possibly damaging |
Het |
Idh1 |
C |
T |
1: 65,207,697 (GRCm39) |
G161R |
probably damaging |
Het |
Idi1 |
T |
C |
13: 8,936,945 (GRCm39) |
|
probably benign |
Het |
Idi2l |
A |
T |
13: 8,990,680 (GRCm39) |
|
probably benign |
Het |
Kcnq2 |
C |
T |
2: 180,776,618 (GRCm39) |
G90S |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,134,486 (GRCm39) |
Y642H |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,443,994 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
T |
4: 123,334,486 (GRCm39) |
F4420I |
probably benign |
Het |
Me1 |
A |
G |
9: 86,469,096 (GRCm39) |
S470P |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,605 (GRCm39) |
S71P |
probably damaging |
Het |
Mfsd3 |
T |
C |
15: 76,586,979 (GRCm39) |
L273P |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,361,207 (GRCm39) |
K757R |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,662,013 (GRCm39) |
V782D |
probably damaging |
Het |
Nab2 |
C |
G |
10: 127,500,916 (GRCm39) |
E59Q |
probably damaging |
Het |
Nfyc |
A |
T |
4: 120,618,921 (GRCm39) |
N244K |
probably damaging |
Het |
Nupr2 |
A |
G |
5: 129,937,672 (GRCm39) |
I80M |
probably damaging |
Het |
Or4c15b |
T |
C |
2: 89,113,401 (GRCm39) |
I46M |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,576 (GRCm39) |
T24A |
probably benign |
Het |
Or5a1 |
A |
G |
19: 12,097,696 (GRCm39) |
C115R |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,977,065 (GRCm39) |
T602A |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,094,301 (GRCm39) |
V561D |
probably benign |
Het |
Psd2 |
T |
A |
18: 36,138,843 (GRCm39) |
V489E |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,057,629 (GRCm39) |
T181A |
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,909,886 (GRCm39) |
M1T |
probably null |
Het |
Sgsm1 |
A |
T |
5: 113,411,135 (GRCm39) |
S864T |
possibly damaging |
Het |
Slc5a10 |
C |
A |
11: 61,564,767 (GRCm39) |
G404V |
possibly damaging |
Het |
Son |
A |
G |
16: 91,456,622 (GRCm39) |
K1790E |
probably damaging |
Het |
Spata31e5 |
T |
C |
1: 28,816,505 (GRCm39) |
E509G |
probably damaging |
Het |
Syde2 |
A |
G |
3: 145,708,176 (GRCm39) |
|
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,102,026 (GRCm39) |
I58V |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,950,040 (GRCm39) |
Y269C |
probably damaging |
Het |
Wdr87-ps |
C |
T |
7: 29,229,004 (GRCm39) |
|
noncoding transcript |
Het |
Yeats2 |
T |
A |
16: 20,008,115 (GRCm39) |
S416T |
probably damaging |
Het |
Zfp40 |
A |
T |
17: 23,394,843 (GRCm39) |
H513Q |
probably damaging |
Het |
|
Other mutations in Slc6a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01155:Slc6a1
|
APN |
6 |
114,291,426 (GRCm39) |
splice site |
probably null |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTCTTCCCTCCCAGAATTGTGAG -3'
(R):5'- TCAGGGATTATCTGCTCCATCCGAC -3'
Sequencing Primer
(F):5'- CTAACCAGTGGTGGAGACTC -3'
(R):5'- GACCTGCTCAGATACCTAGTG -3'
|
Posted On |
2014-04-13 |