Incidental Mutation 'IGL01111:Gabra4'
| ID |
51120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra4
|
| Ensembl Gene |
ENSMUSG00000029211 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 4 |
| Synonyms |
Gabra-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71790972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 290
(Y290C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031121]
[ENSMUST00000197994]
[ENSMUST00000198138]
[ENSMUST00000199357]
|
| AlphaFold |
Q9D6F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031121
AA Change: Y264C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: Y264C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
48 |
256 |
8.8e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
263 |
536 |
3.4e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198138
|
| SMART Domains |
Protein: ENSMUSP00000142466
Gene: ENSMUSG00000029211
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
53 |
69 |
3e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199357
AA Change: Y290C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: Y290C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
91 |
282 |
1.7e-45 |
PFAM |
|
Pfam:Neur_chan_memb
|
289 |
562 |
3.3e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (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. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
T |
A |
18: 31,905,123 (GRCm39) |
Y121* |
probably null |
Het |
| Apc |
C |
T |
18: 34,448,189 (GRCm39) |
T1661I |
possibly damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,639,150 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpt1c |
T |
C |
7: 44,614,978 (GRCm39) |
H325R |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,883 (GRCm39) |
K227E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,071,248 (GRCm39) |
K682E |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,098,971 (GRCm39) |
Y123H |
possibly damaging |
Het |
| Dnaaf9 |
G |
T |
2: 130,578,518 (GRCm39) |
D655E |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,106,669 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,071,681 (GRCm39) |
E153G |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,260,282 (GRCm39) |
Y64* |
probably null |
Het |
| Ephb2 |
A |
T |
4: 136,384,721 (GRCm39) |
S897T |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,515,146 (GRCm39) |
I1092T |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,574,520 (GRCm39) |
H67L |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,377,834 (GRCm39) |
L11P |
probably damaging |
Het |
| Jmy |
T |
C |
13: 93,577,529 (GRCm39) |
R880G |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,202,081 (GRCm39) |
C532R |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,833,259 (GRCm39) |
|
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,569,099 (GRCm39) |
V591A |
possibly damaging |
Het |
| Ldc1 |
T |
A |
4: 130,115,518 (GRCm39) |
D10V |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,671,852 (GRCm39) |
N959Y |
possibly damaging |
Het |
| Man1a |
A |
T |
10: 53,853,109 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,721 (GRCm39) |
S431T |
possibly damaging |
Het |
| Mx2 |
A |
T |
16: 97,359,919 (GRCm39) |
Q563L |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,333,990 (GRCm39) |
Y874N |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,563,553 (GRCm39) |
I1373T |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,643 (GRCm39) |
D1409V |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,473,789 (GRCm39) |
V744E |
possibly damaging |
Het |
| Or51l4 |
T |
A |
7: 103,404,580 (GRCm39) |
T71S |
probably benign |
Het |
| Pgap1 |
T |
C |
1: 54,570,102 (GRCm39) |
K315R |
probably benign |
Het |
| Rab8a |
T |
C |
8: 72,929,700 (GRCm39) |
V114A |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,496,812 (GRCm39) |
T73A |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,875 (GRCm39) |
E265G |
probably damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,671,000 (GRCm39) |
V529M |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,405,961 (GRCm39) |
A613E |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,182,120 (GRCm39) |
|
probably null |
Het |
| Tbck |
A |
G |
3: 132,400,168 (GRCm39) |
H73R |
probably damaging |
Het |
| Thg1l |
A |
T |
11: 45,839,051 (GRCm39) |
D220E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,667 (GRCm39) |
G16037D |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,096,927 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,083,831 (GRCm39) |
D68E |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,728,740 (GRCm39) |
T505A |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,711 (GRCm39) |
K25E |
probably damaging |
Het |
|
| Other mutations in Gabra4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01503:Gabra4
|
APN |
5 |
71,798,429 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02028:Gabra4
|
APN |
5 |
71,790,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Gabra4
|
APN |
5 |
71,729,510 (GRCm39) |
missense |
probably benign |
|
|
IGL02749:Gabra4
|
APN |
5 |
71,795,490 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03095:Gabra4
|
APN |
5 |
71,781,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03330:Gabra4
|
APN |
5 |
71,798,407 (GRCm39) |
missense |
probably null |
1.00 |
|
E0354:Gabra4
|
UTSW |
5 |
71,798,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Gabra4
|
UTSW |
5 |
71,729,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Gabra4
|
UTSW |
5 |
71,790,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Gabra4
|
UTSW |
5 |
71,729,329 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1689:Gabra4
|
UTSW |
5 |
71,790,885 (GRCm39) |
splice site |
probably null |
|
|
R1930:Gabra4
|
UTSW |
5 |
71,795,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Gabra4
|
UTSW |
5 |
71,795,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Gabra4
|
UTSW |
5 |
71,729,412 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2095:Gabra4
|
UTSW |
5 |
71,781,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Gabra4
|
UTSW |
5 |
71,798,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Gabra4
|
UTSW |
5 |
71,729,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3884:Gabra4
|
UTSW |
5 |
71,814,600 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3924:Gabra4
|
UTSW |
5 |
71,799,596 (GRCm39) |
splice site |
probably benign |
|
|
R4029:Gabra4
|
UTSW |
5 |
71,729,532 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4361:Gabra4
|
UTSW |
5 |
71,790,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4659:Gabra4
|
UTSW |
5 |
71,798,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Gabra4
|
UTSW |
5 |
71,815,152 (GRCm39) |
start codon destroyed |
probably null |
0.74 |
|
R4810:Gabra4
|
UTSW |
5 |
71,781,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Gabra4
|
UTSW |
5 |
71,729,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5093:Gabra4
|
UTSW |
5 |
71,798,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Gabra4
|
UTSW |
5 |
71,729,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5889:Gabra4
|
UTSW |
5 |
71,729,234 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5906:Gabra4
|
UTSW |
5 |
71,781,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6574:Gabra4
|
UTSW |
5 |
71,781,268 (GRCm39) |
missense |
probably benign |
|
|
R7068:Gabra4
|
UTSW |
5 |
71,729,402 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7571:Gabra4
|
UTSW |
5 |
71,729,335 (GRCm39) |
missense |
probably benign |
|
|
R7815:Gabra4
|
UTSW |
5 |
71,815,152 (GRCm39) |
start codon destroyed |
possibly damaging |
0.54 |
|
R7817:Gabra4
|
UTSW |
5 |
71,798,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Gabra4
|
UTSW |
5 |
71,798,256 (GRCm39) |
splice site |
probably null |
|
|
R7899:Gabra4
|
UTSW |
5 |
71,815,338 (GRCm39) |
unclassified |
probably benign |
|
|
R8000:Gabra4
|
UTSW |
5 |
71,781,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Gabra4
|
UTSW |
5 |
71,781,295 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8996:Gabra4
|
UTSW |
5 |
71,729,046 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9623:Gabra4
|
UTSW |
5 |
71,791,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Gabra4
|
UTSW |
5 |
71,798,415 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9756:Gabra4
|
UTSW |
5 |
71,729,067 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9762:Gabra4
|
UTSW |
5 |
71,814,463 (GRCm39) |
missense |
unknown |
|
|
R9787:Gabra4
|
UTSW |
5 |
71,791,004 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Gabra4
|
UTSW |
5 |
71,781,238 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Posted On |
2013-06-21 |
Incidental Mutation