Incidental Mutation 'R9143:Slc6a1'
| ID |
723589 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R9143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to T
at 114292503 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 benign
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 benign
Transcript: ENSMUST00000204074
|
| SMART Domains |
Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
375 |
1.2e-162 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
C |
17: 48,452,605 (GRCm39) |
I111M |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,259,715 (GRCm39) |
I292V |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,509,408 (GRCm39) |
S379P |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,688 (GRCm39) |
H527Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,912,707 (GRCm39) |
I244F |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,428,964 (GRCm39) |
S449R |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,375,190 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,337,276 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
A |
13: 38,377,337 (GRCm39) |
S1707R |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,347,004 (GRCm39) |
Q162L |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,502 (GRCm39) |
N69S |
probably benign |
Het |
| Galnt10 |
C |
T |
11: 57,612,146 (GRCm39) |
T62I |
probably benign |
Het |
| Gm19668 |
T |
C |
10: 77,634,960 (GRCm39) |
D3G |
unknown |
Het |
| Hace1 |
T |
A |
10: 45,562,764 (GRCm39) |
F760I |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,356,936 (GRCm39) |
Y65H |
probably damaging |
Het |
| Insl5 |
C |
A |
4: 102,883,841 (GRCm39) |
V27L |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,715,930 (GRCm39) |
D425G |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,087,272 (GRCm39) |
K183R |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,525,456 (GRCm39) |
L84Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,750 (GRCm39) |
F1811I |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,062,883 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,121,792 (GRCm39) |
S371P |
probably benign |
Het |
| Nin |
A |
G |
12: 70,137,349 (GRCm39) |
S76P |
|
Het |
| Nuak1 |
C |
T |
10: 84,213,951 (GRCm39) |
|
probably null |
Het |
| Or8b47 |
A |
T |
9: 38,427,917 (GRCm39) |
|
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,722 (GRCm39) |
I109F |
possibly damaging |
Het |
| Pld1 |
A |
G |
3: 28,132,643 (GRCm39) |
|
probably benign |
Het |
| Rcvrn |
T |
C |
11: 67,590,890 (GRCm39) |
F158S |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,885,409 (GRCm39) |
T200A |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,934,906 (GRCm39) |
T704M |
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,688,157 (GRCm39) |
S503P |
probably damaging |
Het |
| Susd5 |
A |
T |
9: 113,924,879 (GRCm39) |
E254V |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,097,983 (GRCm39) |
S529P |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,310 (GRCm39) |
N392K |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,842,220 (GRCm39) |
L525P |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,514,824 (GRCm39) |
M1127V |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,900,705 (GRCm39) |
E585V |
probably benign |
Het |
| Usp19 |
T |
G |
9: 108,375,398 (GRCm39) |
L847R |
probably damaging |
Het |
| Vta1 |
T |
C |
10: 14,551,776 (GRCm39) |
H141R |
possibly damaging |
Het |
| Zfp950 |
G |
T |
19: 61,108,778 (GRCm39) |
P102T |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,163,908 (GRCm39) |
I869T |
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 |
|
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 |
|
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'- TATTGTGCGCCCTGAGAATGG -3'
(R):5'- CTATAGTTGGGGCACAGGACAAC -3'
Sequencing Primer
(F):5'- CTGAGAATGGCCCTGAGCAG -3'
(R):5'- TGGCAGTGACAAAGGCTA -3'
|
| Posted On |
2022-08-31 |
Incidental Mutation