Incidental Mutation 'R5361:Slc6a1'
| ID |
422805 |
| 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 |
042940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R5361 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114279493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 91
(I91F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032454]
[ENSMUST00000204074]
|
| AlphaFold |
P31648 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032454
AA Change: I91F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: I91F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203330
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204600
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
A |
9: 57,164,468 (GRCm39) |
K635N |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,705 (GRCm39) |
M4663K |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,960,212 (GRCm39) |
T280S |
probably benign |
Het |
| Ccdc166 |
A |
G |
15: 75,852,869 (GRCm39) |
V366A |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,493,044 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,792,292 (GRCm39) |
T1281A |
unknown |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,233,484 (GRCm39) |
D127V |
probably damaging |
Het |
| Ddx20 |
T |
A |
3: 105,590,825 (GRCm39) |
E197V |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,814,324 (GRCm39) |
M96V |
probably benign |
Het |
| Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,945,643 (GRCm39) |
V24A |
probably benign |
Het |
| Dop1b |
C |
A |
16: 93,567,392 (GRCm39) |
A1273E |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,416,703 (GRCm39) |
V868A |
possibly damaging |
Het |
| Dtx4 |
A |
G |
19: 12,462,626 (GRCm39) |
|
probably null |
Het |
| Elovl4 |
A |
G |
9: 83,672,154 (GRCm39) |
L55P |
possibly damaging |
Het |
| Fbxo40 |
T |
A |
16: 36,789,914 (GRCm39) |
T399S |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm14399 |
T |
C |
2: 174,973,371 (GRCm39) |
E96G |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,147 (GRCm39) |
V606G |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,826,087 (GRCm39) |
E768G |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,723,704 (GRCm39) |
T665S |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,592,301 (GRCm39) |
|
probably benign |
Het |
| Htt |
T |
C |
5: 35,064,928 (GRCm39) |
V3047A |
possibly damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,676,011 (GRCm39) |
T107S |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,101,272 (GRCm39) |
T899S |
probably benign |
Het |
| Lhcgr |
T |
A |
17: 89,050,281 (GRCm39) |
Y415F |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Med4 |
C |
A |
14: 73,747,553 (GRCm39) |
S18* |
probably null |
Het |
| Nefl |
T |
C |
14: 68,322,088 (GRCm39) |
V226A |
probably damaging |
Het |
| Nploc4 |
T |
A |
11: 120,275,389 (GRCm39) |
N516Y |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,501 (GRCm39) |
V270A |
probably benign |
Het |
| Or6c66 |
A |
T |
10: 129,461,601 (GRCm39) |
F110I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdha3 |
T |
G |
18: 37,079,752 (GRCm39) |
L165V |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,099 (GRCm39) |
V415D |
probably damaging |
Het |
| Pcdhga10 |
T |
C |
18: 37,880,503 (GRCm39) |
I88T |
probably damaging |
Het |
| Pigyl |
T |
A |
9: 22,069,292 (GRCm39) |
M1K |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,991,203 (GRCm39) |
S272P |
probably damaging |
Het |
| Prss3 |
C |
T |
6: 41,350,780 (GRCm39) |
D237N |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,958,078 (GRCm39) |
D150G |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,324,674 (GRCm39) |
D909E |
probably benign |
Het |
| Serpinb3c |
A |
T |
1: 107,204,661 (GRCm39) |
Y28* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,500,980 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
T |
G |
11: 60,669,118 (GRCm39) |
Y89D |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,443,247 (GRCm39) |
M1898K |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,246,233 (GRCm39) |
I251K |
probably damaging |
Het |
| Thbs4 |
C |
T |
13: 92,913,501 (GRCm39) |
D140N |
probably benign |
Het |
| Tmbim6 |
G |
A |
15: 99,303,633 (GRCm39) |
A108T |
probably benign |
Het |
| Trim10 |
T |
G |
17: 37,186,328 (GRCm39) |
L301R |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,671,161 (GRCm39) |
I607N |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,929 (GRCm39) |
I240F |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,436,765 (GRCm39) |
I873F |
possibly damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,464,267 (GRCm39) |
S1475N |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,079 (GRCm39) |
S483P |
possibly damaging |
Het |
| Zswim7 |
A |
T |
11: 62,158,373 (GRCm39) |
H122Q |
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 |
|
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'- GTCCCCAATGACAGTTGTCTG -3'
(R):5'- AAATGGGCCCATAGCTTCCTTG -3'
Sequencing Primer
(F):5'- GGAGGTGATATCAGAACTTCTGTATC -3'
(R):5'- ATAGCTTCCTTGTCCCGGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation