Incidental Mutation 'IGL01645:Gabra1'
| ID |
102619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra1
|
| Ensembl Gene |
ENSMUSG00000010803 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
| Synonyms |
GABAA alpha 1, Gabra-1, GABAAR alpha1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL01645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
42021766-42073757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42026389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 301
(N301S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020707]
[ENSMUST00000205546]
[ENSMUST00000206105]
|
| AlphaFold |
P62812 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020707
AA Change: N301S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: N301S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
41 |
249 |
1.5e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
256 |
347 |
8.6e-33 |
PFAM |
|
low complexity region
|
395 |
411 |
N/A |
INTRINSIC |
|
transmembrane domain
|
420 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205546
AA Change: N301S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206105
AA Change: N301S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
T |
7: 45,764,477 (GRCm39) |
C1156Y |
possibly damaging |
Het |
| Armh4 |
T |
C |
14: 50,011,011 (GRCm39) |
E232G |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,679,184 (GRCm39) |
H766Y |
probably benign |
Het |
| Cacna2d1 |
C |
A |
5: 16,217,389 (GRCm39) |
|
probably null |
Het |
| Card11 |
T |
A |
5: 140,863,778 (GRCm39) |
T987S |
probably benign |
Het |
| Dennd2b |
T |
A |
7: 109,126,841 (GRCm39) |
K540* |
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,286,017 (GRCm39) |
Y2723N |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,150,733 (GRCm39) |
I342F |
possibly damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,170,871 (GRCm39) |
H454R |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,394,763 (GRCm39) |
T592A |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,825,451 (GRCm39) |
S49T |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,987,159 (GRCm39) |
N294K |
probably benign |
Het |
| Fmo3 |
A |
G |
1: 162,791,575 (GRCm39) |
V234A |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,435 (GRCm39) |
F420L |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,069 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
A |
T |
1: 163,214,000 (GRCm39) |
L310Q |
possibly damaging |
Het |
| Gsdme |
A |
G |
6: 50,228,316 (GRCm39) |
Y51H |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,012 (GRCm39) |
L96P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,450,560 (GRCm39) |
I1964T |
possibly damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,053 (GRCm39) |
L410P |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,395,090 (GRCm39) |
R112G |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,681 (GRCm39) |
T247A |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,483,207 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
T |
C |
11: 94,394,293 (GRCm39) |
|
probably null |
Het |
| Myoz2 |
T |
A |
3: 122,827,881 (GRCm39) |
K12N |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,491 (GRCm39) |
S343G |
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,256,359 (GRCm39) |
I288T |
possibly damaging |
Het |
| P3h1 |
T |
G |
4: 119,093,980 (GRCm39) |
F212V |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,656 (GRCm39) |
D265G |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,361,934 (GRCm39) |
T992I |
possibly damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
| Pth2 |
T |
A |
7: 44,830,764 (GRCm39) |
L29Q |
possibly damaging |
Het |
| Rab1b |
A |
C |
19: 5,154,962 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,464,834 (GRCm39) |
C190* |
probably null |
Het |
| Scn9a |
T |
C |
2: 66,317,986 (GRCm39) |
K1501E |
possibly damaging |
Het |
| Selenoi |
A |
G |
5: 30,462,821 (GRCm39) |
|
probably benign |
Het |
| Slc11a2 |
T |
C |
15: 100,286,999 (GRCm39) |
N558S |
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,539 (GRCm39) |
I173V |
probably benign |
Het |
| Sra1 |
A |
C |
18: 36,804,526 (GRCm39) |
F476C |
probably damaging |
Het |
| Tmem119 |
T |
A |
5: 113,933,409 (GRCm39) |
K131* |
probably null |
Het |
| Trim12c |
T |
A |
7: 103,994,261 (GRCm39) |
K198* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,681,904 (GRCm39) |
|
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,265,371 (GRCm39) |
V154I |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,654,069 (GRCm39) |
S108R |
probably damaging |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,547 (GRCm39) |
C138* |
probably null |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,614 (GRCm39) |
I47V |
probably benign |
Het |
| Wnt3 |
C |
T |
11: 103,703,204 (GRCm39) |
A229V |
probably benign |
Het |
|
| Other mutations in Gabra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Gabra1
|
APN |
11 |
42,024,453 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01893:Gabra1
|
APN |
11 |
42,024,586 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02114:Gabra1
|
APN |
11 |
42,026,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Gabra1
|
APN |
11 |
42,031,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Gabra1
|
APN |
11 |
42,024,345 (GRCm39) |
missense |
probably damaging |
0.96 |
|
opulence
|
UTSW |
11 |
42,053,382 (GRCm39) |
missense |
probably benign |
0.08 |
|
Splendor
|
UTSW |
11 |
42,026,270 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0546:Gabra1
|
UTSW |
11 |
42,053,428 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1495:Gabra1
|
UTSW |
11 |
42,045,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Gabra1
|
UTSW |
11 |
42,031,177 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1850:Gabra1
|
UTSW |
11 |
42,070,403 (GRCm39) |
missense |
probably benign |
|
|
R1989:Gabra1
|
UTSW |
11 |
42,045,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Gabra1
|
UTSW |
11 |
42,024,625 (GRCm39) |
unclassified |
probably benign |
|
|
R3758:Gabra1
|
UTSW |
11 |
42,066,763 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4781:Gabra1
|
UTSW |
11 |
42,024,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4788:Gabra1
|
UTSW |
11 |
42,037,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Gabra1
|
UTSW |
11 |
42,045,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Gabra1
|
UTSW |
11 |
42,024,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Gabra1
|
UTSW |
11 |
42,073,750 (GRCm39) |
splice site |
probably null |
|
|
R5789:Gabra1
|
UTSW |
11 |
42,073,742 (GRCm39) |
unclassified |
probably benign |
|
|
R6273:Gabra1
|
UTSW |
11 |
42,031,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6289:Gabra1
|
UTSW |
11 |
42,045,846 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6298:Gabra1
|
UTSW |
11 |
42,073,205 (GRCm39) |
unclassified |
probably benign |
|
|
R6475:Gabra1
|
UTSW |
11 |
42,053,382 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6552:Gabra1
|
UTSW |
11 |
42,037,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7338:Gabra1
|
UTSW |
11 |
42,073,121 (GRCm39) |
missense |
unknown |
|
|
R7405:Gabra1
|
UTSW |
11 |
42,045,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Gabra1
|
UTSW |
11 |
42,045,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7725:Gabra1
|
UTSW |
11 |
42,026,270 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7727:Gabra1
|
UTSW |
11 |
42,024,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Gabra1
|
UTSW |
11 |
42,037,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Gabra1
|
UTSW |
11 |
42,026,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Gabra1
|
UTSW |
11 |
42,066,831 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8890:Gabra1
|
UTSW |
11 |
42,024,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Gabra1
|
UTSW |
11 |
42,038,052 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8918:Gabra1
|
UTSW |
11 |
42,026,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Gabra1
|
UTSW |
11 |
42,044,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Gabra1
|
UTSW |
11 |
42,026,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Gabra1
|
UTSW |
11 |
42,045,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Gabra1
|
UTSW |
11 |
42,024,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Gabra1
|
UTSW |
11 |
42,024,565 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2014-01-21 |
Incidental Mutation