Incidental Mutation 'IGL01553:Gabra6'
| ID |
90643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra6
|
| Ensembl Gene |
ENSMUSG00000020428 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 6 |
| Synonyms |
alpha6, GABA-ARalpha6, Gabra-6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
42197264-42211899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42206023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 278
(T278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020703]
[ENSMUST00000109286]
[ENSMUST00000155218]
|
| AlphaFold |
P16305 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020703
AA Change: T268S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: T268S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
230 |
2.4e-43 |
PFAM |
|
Pfam:Neur_chan_memb
|
237 |
378 |
9.3e-43 |
PFAM |
|
transmembrane domain
|
413 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109286
AA Change: T277S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: T277S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
31 |
239 |
2.4e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
246 |
387 |
9.7e-43 |
PFAM |
|
transmembrane domain
|
422 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155218
AA Change: T278S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: T278S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
240 |
2e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
393 |
6.3e-35 |
PFAM |
|
transmembrane domain
|
423 |
440 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
| Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
| Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
| Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
| Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
| Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
| Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
| Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
| Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
| Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
| Other mutations in Gabra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Gabra6
|
APN |
11 |
42,207,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01801:Gabra6
|
APN |
11 |
42,205,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Gabra6
|
APN |
11 |
42,198,244 (GRCm39) |
missense |
probably benign |
|
|
IGL03027:Gabra6
|
APN |
11 |
42,205,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Gabra6
|
APN |
11 |
42,207,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Gabra6
|
UTSW |
11 |
42,205,798 (GRCm39) |
missense |
probably benign |
|
|
R0206:Gabra6
|
UTSW |
11 |
42,207,906 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Gabra6
|
UTSW |
11 |
42,205,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Gabra6
|
UTSW |
11 |
42,205,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0745:Gabra6
|
UTSW |
11 |
42,207,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0751:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0789:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Gabra6
|
UTSW |
11 |
42,208,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Gabra6
|
UTSW |
11 |
42,207,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Gabra6
|
UTSW |
11 |
42,208,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3605:Gabra6
|
UTSW |
11 |
42,205,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Gabra6
|
UTSW |
11 |
42,198,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Gabra6
|
UTSW |
11 |
42,198,317 (GRCm39) |
missense |
probably benign |
|
|
R5929:Gabra6
|
UTSW |
11 |
42,208,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5930:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5931:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6155:Gabra6
|
UTSW |
11 |
42,207,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Gabra6
|
UTSW |
11 |
42,208,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Gabra6
|
UTSW |
11 |
42,208,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Gabra6
|
UTSW |
11 |
42,207,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Gabra6
|
UTSW |
11 |
42,211,868 (GRCm39) |
splice site |
probably null |
|
|
R7869:Gabra6
|
UTSW |
11 |
42,207,322 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7949:Gabra6
|
UTSW |
11 |
42,207,826 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8199:Gabra6
|
UTSW |
11 |
42,207,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Gabra6
|
UTSW |
11 |
42,210,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Gabra6
|
UTSW |
11 |
42,205,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Gabra6
|
UTSW |
11 |
42,198,289 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation