Incidental Mutation 'R6941:Slc6a1'
| ID |
540538 |
| 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 |
045055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 114290473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 316
(W316*)
|
| 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: W500*
|
| SMART Domains |
Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: W500*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204074
AA Change: W316*
|
| SMART Domains |
Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: W316*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
375 |
1.2e-162 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.0%
|
| 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 |
|---|
| Abca16 |
A |
T |
7: 120,140,370 (GRCm39) |
I1557F |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,787,420 (GRCm39) |
D176E |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,922 (GRCm39) |
V11E |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,986,609 (GRCm39) |
H225R |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,501,203 (GRCm39) |
Y1016H |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,267 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,819,469 (GRCm39) |
V481A |
probably benign |
Het |
| Cabp1 |
A |
T |
5: 115,310,960 (GRCm39) |
D295E |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,699 (GRCm39) |
T582S |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,076,758 (GRCm39) |
S145P |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,857,297 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,230,246 (GRCm39) |
Y353C |
probably benign |
Het |
| Dsg1c |
C |
T |
18: 20,400,980 (GRCm39) |
T161I |
probably damaging |
Het |
| Epm2a |
A |
G |
10: 11,266,829 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,152,914 (GRCm39) |
H3766R |
probably benign |
Het |
| Fjx1 |
A |
G |
2: 102,280,903 (GRCm39) |
V344A |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,016,363 (GRCm39) |
I93V |
probably benign |
Het |
| Gbe1 |
TAGTAAGAGT |
TAGT |
16: 70,230,444 (GRCm39) |
|
probably benign |
Het |
| Gdf15 |
A |
G |
8: 71,082,794 (GRCm39) |
L104P |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,393,961 (GRCm39) |
R24Q |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
| Ipmk |
G |
A |
10: 71,183,920 (GRCm39) |
G47S |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,679,641 (GRCm39) |
I150T |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,476,068 (GRCm39) |
Y545C |
probably damaging |
Het |
| Klk1b8 |
C |
A |
7: 43,602,213 (GRCm39) |
H48Q |
possibly damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,678,969 (GRCm39) |
Y376C |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,941,222 (GRCm39) |
D278E |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Ndst4 |
T |
G |
3: 125,403,160 (GRCm39) |
H422Q |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,430,376 (GRCm39) |
E206G |
probably damaging |
Het |
| Nufip2 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 77,577,122 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,861 (GRCm39) |
N170K |
possibly damaging |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,048 (GRCm39) |
Y438C |
probably damaging |
Het |
| Pigr |
G |
T |
1: 130,775,064 (GRCm39) |
W497L |
probably damaging |
Het |
| Pkd2l2 |
G |
T |
18: 34,549,936 (GRCm39) |
V194L |
probably benign |
Het |
| Ppp1r16b |
A |
T |
2: 158,538,068 (GRCm39) |
K5M |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,898,307 (GRCm39) |
S35R |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,424,385 (GRCm39) |
M126I |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,303 (GRCm39) |
Q258* |
probably null |
Het |
| Rad51d |
A |
G |
11: 82,780,623 (GRCm39) |
L53P |
probably damaging |
Het |
| Rell2 |
G |
A |
18: 38,091,341 (GRCm39) |
A169T |
probably benign |
Het |
| Rnf19b |
T |
C |
4: 128,976,572 (GRCm39) |
I545T |
probably benign |
Het |
| Slc12a1 |
G |
T |
2: 125,055,999 (GRCm39) |
E843D |
possibly damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,346 (GRCm39) |
S507P |
probably damaging |
Het |
| Spesp1 |
A |
G |
9: 62,180,152 (GRCm39) |
L252P |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,385,811 (GRCm39) |
|
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,769 (GRCm39) |
T1850A |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,266,365 (GRCm39) |
T604A |
possibly damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,846 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 49,127,451 (GRCm39) |
R76G |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,330,977 (GRCm39) |
A419S |
probably damaging |
Het |
| Usp54 |
T |
G |
14: 20,612,177 (GRCm39) |
I880L |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,134 (GRCm39) |
V377D |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,581,159 (GRCm39) |
E65D |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,121,491 (GRCm39) |
E134G |
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 |
|
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'- ATGAGGGGACTTGCTCATGG -3'
(R):5'- GAAGACCTGGGGAGATTTACC -3'
Sequencing Primer
(F):5'- GCTCATGGCTGTACTTCAAATAG -3'
(R):5'- AGCTGAGCTGTCTGTACCACAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation