Incidental Mutation 'R9256:Slc6a1'
| ID |
701865 |
| 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: 0.131)
|
| Stock # |
R9256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114287554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 441
(Q441L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032454]
[ENSMUST00000204074]
|
| AlphaFold |
P31648 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032454
AA Change: Q441L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: Q441L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204074
AA Change: Q257L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: Q257L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
375 |
1.2e-162 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,945,930 (GRCm39) |
Y21C |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,060,218 (GRCm39) |
I290F |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,124,052 (GRCm39) |
V1244I |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,025,945 (GRCm39) |
I450N |
probably damaging |
Het |
| AL732309.1 |
A |
T |
2: 25,136,211 (GRCm39) |
M1K |
probably null |
Het |
| Alox15 |
C |
T |
11: 70,236,370 (GRCm39) |
G510D |
possibly damaging |
Het |
| Arhgef16 |
C |
A |
4: 154,363,502 (GRCm39) |
E685* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,038 (GRCm39) |
E643G |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,423,061 (GRCm39) |
Q171K |
probably damaging |
Het |
| Bdkrb2 |
A |
G |
12: 105,558,352 (GRCm39) |
T198A |
probably benign |
Het |
| C7 |
T |
C |
15: 5,023,645 (GRCm39) |
E721G |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,797,848 (GRCm39) |
Y823H |
unknown |
Het |
| Cd74 |
T |
C |
18: 60,944,366 (GRCm39) |
V192A |
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,067 (GRCm39) |
A231T |
probably damaging |
Het |
| Cers6 |
G |
A |
2: 68,777,706 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,788,637 (GRCm39) |
I555M |
probably benign |
Het |
| Cracd |
T |
G |
5: 76,988,757 (GRCm39) |
V36G |
unknown |
Het |
| Crnkl1 |
A |
G |
2: 145,770,216 (GRCm39) |
V209A |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,971,272 (GRCm39) |
T98A |
|
Het |
| Enpp5 |
T |
C |
17: 44,396,414 (GRCm39) |
I442T |
probably benign |
Het |
| Fbxw19 |
T |
C |
9: 109,310,641 (GRCm39) |
Y427C |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,674,358 (GRCm39) |
S665A |
possibly damaging |
Het |
| Igkv6-20 |
T |
C |
6: 70,313,417 (GRCm39) |
Y16C |
probably benign |
Het |
| Ints10 |
A |
G |
8: 69,261,129 (GRCm39) |
R370G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,446,198 (GRCm39) |
I742N |
possibly damaging |
Het |
| Kcnn3 |
T |
C |
3: 89,574,407 (GRCm39) |
Y640H |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,341,303 (GRCm39) |
V959A |
probably benign |
Het |
| Marcksl1 |
A |
G |
4: 129,408,816 (GRCm39) |
S132G |
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,010 (GRCm39) |
K83N |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,760,862 (GRCm39) |
E384G |
possibly damaging |
Het |
| Morn5 |
G |
T |
2: 35,939,553 (GRCm39) |
G5W |
probably damaging |
Het |
| Mrpl46 |
A |
G |
7: 78,432,671 (GRCm39) |
S36P |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,490,777 (GRCm39) |
F494L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,274,534 (GRCm39) |
N336S |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,544,790 (GRCm39) |
N22S |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or10x4 |
C |
T |
1: 174,219,109 (GRCm39) |
T158I |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,856,135 (GRCm39) |
I234F |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,747,387 (GRCm39) |
I288T |
probably damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,498 (GRCm39) |
Y123* |
probably null |
Het |
| Or9r7 |
A |
G |
10: 129,962,335 (GRCm39) |
V197A |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,047 (GRCm39) |
N724Y |
|
Het |
| Pde8b |
G |
A |
13: 95,164,204 (GRCm39) |
R669C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,397,290 (GRCm39) |
|
probably null |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Prb1b |
T |
C |
6: 132,288,972 (GRCm39) |
N284S |
unknown |
Het |
| Prtg |
A |
T |
9: 72,758,977 (GRCm39) |
I444F |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,219,776 (GRCm39) |
H1998L |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,356,450 (GRCm39) |
V133D |
probably benign |
Het |
| Rab35 |
C |
A |
5: 115,778,246 (GRCm39) |
R71S |
probably damaging |
Het |
| Scgb2b12 |
A |
G |
7: 32,026,054 (GRCm39) |
L46P |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,475,483 (GRCm39) |
|
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,209 (GRCm39) |
V245F |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,058,772 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,074,867 (GRCm39) |
S1154P |
probably damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,293,835 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
A |
T |
4: 53,848,924 (GRCm39) |
I110F |
probably damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,325,721 (GRCm39) |
I573T |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,235 (GRCm39) |
I1155M |
possibly damaging |
Het |
| Vipr1 |
A |
G |
9: 121,490,118 (GRCm39) |
I164V |
probably benign |
Het |
| Vps13b |
T |
G |
15: 35,623,925 (GRCm39) |
S1281A |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,882,374 (GRCm39) |
L1073P |
|
Het |
| Wipi1 |
C |
T |
11: 109,473,952 (GRCm39) |
|
probably null |
Het |
| Zdhhc8 |
G |
A |
16: 18,042,686 (GRCm39) |
P505S |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,839,899 (GRCm39) |
V84I |
probably benign |
Het |
| Zfp712 |
T |
C |
13: 67,188,791 (GRCm39) |
T579A |
probably benign |
Het |
| Zfp788 |
G |
A |
7: 41,299,638 (GRCm39) |
R758Q |
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 |
|
R9143:Slc6a1
|
UTSW |
6 |
114,292,503 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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'- TATTACAAGGCCAGGTTTGGGG -3'
(R):5'- TCTCACAATGGAGTGATGGGG -3'
Sequencing Primer
(F):5'- TAGGAGGAGGCTGGCTGC -3'
(R):5'- CACAATGGAGTGATGGGGTTTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation