Incidental Mutation 'R1451:Slc6a1'
ID |
161659 |
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 |
039506-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R1451 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 114284756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 87
(Y87*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032454]
[ENSMUST00000204074]
|
AlphaFold |
P31648 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032454
AA Change: Y271*
|
SMART Domains |
Protein: ENSMUSP00000032454 Gene: ENSMUSG00000030310 AA Change: Y271*
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000204074
AA Change: Y87*
|
SMART Domains |
Protein: ENSMUSP00000145080 Gene: ENSMUSG00000030310 AA Change: Y87*
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 |
0.9718 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
Validation Efficiency |
96% (55/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
T |
C |
14: 32,098,588 (GRCm39) |
E83G |
possibly damaging |
Het |
Abca9 |
A |
G |
11: 110,018,273 (GRCm39) |
S1116P |
probably damaging |
Het |
Abcc12 |
T |
A |
8: 87,284,322 (GRCm39) |
T296S |
probably damaging |
Het |
Adarb2 |
A |
G |
13: 8,389,657 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
C |
T |
9: 42,903,874 (GRCm39) |
|
probably benign |
Het |
Asah1 |
A |
G |
8: 41,807,049 (GRCm39) |
|
probably null |
Het |
C1ra |
A |
T |
6: 124,498,600 (GRCm39) |
Q431L |
probably benign |
Het |
C1s2 |
A |
T |
6: 124,602,453 (GRCm39) |
I580N |
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,213,785 (GRCm39) |
T68I |
probably benign |
Het |
Car8 |
A |
T |
4: 8,189,327 (GRCm39) |
H162Q |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,062,527 (GRCm39) |
R116G |
probably damaging |
Het |
Ccdc136 |
T |
A |
6: 29,419,376 (GRCm39) |
N965K |
probably benign |
Het |
Cd200r3 |
A |
G |
16: 44,771,910 (GRCm39) |
E58G |
possibly damaging |
Het |
Cnksr3 |
T |
A |
10: 7,076,830 (GRCm39) |
S121C |
probably null |
Het |
Cog6 |
T |
C |
3: 52,916,534 (GRCm39) |
M212V |
possibly damaging |
Het |
Ebna1bp2 |
C |
A |
4: 118,478,269 (GRCm39) |
|
probably null |
Het |
Epha1 |
C |
A |
6: 42,338,385 (GRCm39) |
M730I |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,836,582 (GRCm39) |
F167S |
probably damaging |
Het |
Fscn2 |
A |
T |
11: 120,252,848 (GRCm39) |
E105V |
probably damaging |
Het |
Gars1 |
T |
C |
6: 55,030,108 (GRCm39) |
|
probably benign |
Het |
Itgb4 |
G |
T |
11: 115,881,710 (GRCm39) |
G753V |
probably damaging |
Het |
Kif23 |
C |
T |
9: 61,832,084 (GRCm39) |
V634M |
probably damaging |
Het |
Krt8 |
T |
C |
15: 101,907,264 (GRCm39) |
Y273C |
possibly damaging |
Het |
Lgmn |
A |
G |
12: 102,372,151 (GRCm39) |
|
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,845,926 (GRCm39) |
I785T |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 103,038,376 (GRCm39) |
|
probably benign |
Het |
Lta4h |
A |
G |
10: 93,316,590 (GRCm39) |
D491G |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,385,931 (GRCm39) |
S315C |
probably damaging |
Het |
Mphosph8 |
C |
T |
14: 56,905,878 (GRCm39) |
R24C |
possibly damaging |
Het |
Neurog2 |
A |
G |
3: 127,427,490 (GRCm39) |
D38G |
possibly damaging |
Het |
Or1j11 |
G |
T |
2: 36,311,877 (GRCm39) |
A156S |
probably benign |
Het |
Or2w2 |
A |
T |
13: 21,758,457 (GRCm39) |
Y56* |
probably null |
Het |
Or2z2 |
C |
T |
11: 58,346,358 (GRCm39) |
R139H |
probably benign |
Het |
Or6b3 |
T |
A |
1: 92,439,517 (GRCm39) |
I78F |
possibly damaging |
Het |
Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
Or8g50 |
T |
A |
9: 39,648,612 (GRCm39) |
V167D |
probably benign |
Het |
Pcdhb17 |
A |
T |
18: 37,619,989 (GRCm39) |
D593V |
probably damaging |
Het |
Pde2a |
G |
T |
7: 101,071,198 (GRCm39) |
E23* |
probably null |
Het |
Prex2 |
G |
A |
1: 11,226,483 (GRCm39) |
V749I |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,809 (GRCm39) |
Y570C |
probably damaging |
Het |
Robo3 |
C |
T |
9: 37,329,007 (GRCm39) |
R1237K |
probably benign |
Het |
Snx13 |
G |
A |
12: 35,128,983 (GRCm39) |
A34T |
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,226,424 (GRCm39) |
L193P |
probably damaging |
Het |
Tia1 |
A |
T |
6: 86,407,321 (GRCm39) |
Y277F |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trappc2l |
T |
C |
8: 123,342,134 (GRCm39) |
F127L |
probably damaging |
Het |
Ushbp1 |
G |
T |
8: 71,838,663 (GRCm39) |
Q588K |
possibly damaging |
Het |
Usp43 |
T |
A |
11: 67,747,007 (GRCm39) |
H895L |
probably benign |
Het |
Vmn1r179 |
T |
A |
7: 23,628,275 (GRCm39) |
C155* |
probably null |
Het |
Vmn2r8 |
T |
A |
5: 108,945,933 (GRCm39) |
D558V |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,688,228 (GRCm39) |
T860A |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,565,628 (GRCm39) |
N522S |
possibly damaging |
Het |
Zfp180 |
T |
C |
7: 23,804,643 (GRCm39) |
F354S |
probably benign |
Het |
Zgpat |
A |
G |
2: 181,021,984 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATCACTGTGAGTTTGAGGCCATC -3'
(R):5'- TCAGGGATTATCTGCTCCATCCGAC -3'
Sequencing Primer
(F):5'- ggccatctctgagcttcac -3'
(R):5'- GACCTGCTCAGATACCTAGTG -3'
|
Posted On |
2014-03-14 |