Incidental Mutation 'IGL02378:Gabra1'
| ID |
291231 |
| 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 # |
IGL02378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
42021766-42073757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 42031082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 283
(V283F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020707]
[ENSMUST00000205546]
[ENSMUST00000206105]
|
| AlphaFold |
P62812 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020707
AA Change: V283F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: V283F
| 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: V283F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206105
AA Change: V283F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,080,424 (GRCm39) |
T414I |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,804,491 (GRCm39) |
T69S |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,878,411 (GRCm39) |
V409A |
probably damaging |
Het |
| Anks3 |
T |
A |
16: 4,768,626 (GRCm39) |
Y239F |
possibly damaging |
Het |
| Arhgap42 |
G |
A |
9: 9,035,584 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Asb18 |
A |
T |
1: 89,920,710 (GRCm39) |
L189Q |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,519,698 (GRCm39) |
R1185G |
probably benign |
Het |
| Cdca7l |
T |
A |
12: 117,835,862 (GRCm39) |
V66E |
possibly damaging |
Het |
| Cdrt4 |
G |
T |
11: 62,883,534 (GRCm39) |
E79* |
probably null |
Het |
| Cep57 |
A |
C |
9: 13,732,842 (GRCm39) |
Y34* |
probably null |
Het |
| Cep63 |
A |
T |
9: 102,473,314 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,144,721 (GRCm39) |
I516K |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,088,887 (GRCm39) |
I843T |
probably damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,544,905 (GRCm39) |
I179T |
possibly damaging |
Het |
| Htr2c |
G |
A |
X: 145,976,755 (GRCm39) |
|
probably benign |
Het |
| Irgc |
G |
A |
7: 24,131,500 (GRCm39) |
T439I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,008,947 (GRCm39) |
L476H |
probably benign |
Het |
| Jarid2 |
A |
C |
13: 45,067,801 (GRCm39) |
K1070T |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,919,652 (GRCm39) |
I2193T |
probably damaging |
Het |
| Med19 |
A |
G |
2: 84,515,625 (GRCm39) |
E103G |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,397,716 (GRCm39) |
D818N |
probably benign |
Het |
| Nom1 |
G |
T |
5: 29,656,124 (GRCm39) |
E830* |
probably null |
Het |
| Or10g9b |
T |
G |
9: 39,917,769 (GRCm39) |
T159P |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,747 (GRCm39) |
S265R |
probably benign |
Het |
| Orai3 |
G |
T |
7: 127,369,333 (GRCm39) |
R58L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,118,006 (GRCm39) |
M583K |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,944,893 (GRCm39) |
M624K |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,656,199 (GRCm39) |
R451H |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,103,951 (GRCm39) |
L170P |
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,185,448 (GRCm39) |
D417Y |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,033,674 (GRCm39) |
D106G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,063,738 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
T |
A |
5: 129,616,668 (GRCm39) |
Y371N |
probably damaging |
Het |
| Slc24a3 |
C |
T |
2: 145,360,322 (GRCm39) |
R141C |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,171,109 (GRCm39) |
W926* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,026,741 (GRCm39) |
T235A |
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,867,571 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
T |
8: 64,470,660 (GRCm39) |
L921* |
probably null |
Het |
| Tnfrsf19 |
T |
A |
14: 61,208,451 (GRCm39) |
T357S |
probably benign |
Het |
| Tnik |
C |
A |
3: 28,692,608 (GRCm39) |
S825* |
probably null |
Het |
| Vil1 |
T |
A |
1: 74,469,850 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,791 (GRCm39) |
K483E |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,645,266 (GRCm39) |
M450I |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,112 (GRCm39) |
P2118S |
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 |
|
IGL01645:Gabra1
|
APN |
11 |
42,026,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation