Incidental Mutation 'IGL03278:Gabrb1'
| ID |
415493 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabrb1
|
| Ensembl Gene |
ENSMUSG00000029212 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit beta 1 |
| Synonyms |
Gabrb-1, B230208N19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03278
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
71815456-72306380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72026939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 113
(D113E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031122]
[ENSMUST00000199967]
|
| AlphaFold |
P50571 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031122
AA Change: D146E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: D146E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
37 |
243 |
7.1e-52 |
PFAM |
|
Pfam:Neur_chan_memb
|
250 |
469 |
2.4e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199967
AA Change: D113E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: D113E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
4 |
210 |
4.8e-51 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
| Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
| H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
| Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
| Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gabrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Gabrb1
|
APN |
5 |
72,265,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00774:Gabrb1
|
APN |
5 |
72,265,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01534:Gabrb1
|
APN |
5 |
72,026,772 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02170:Gabrb1
|
APN |
5 |
72,294,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Gabrb1
|
APN |
5 |
71,858,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03345:Gabrb1
|
APN |
5 |
72,293,908 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03050:Gabrb1
|
UTSW |
5 |
72,279,497 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4445001:Gabrb1
|
UTSW |
5 |
72,266,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Gabrb1
|
UTSW |
5 |
71,858,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Gabrb1
|
UTSW |
5 |
72,279,289 (GRCm39) |
splice site |
probably benign |
|
|
R0386:Gabrb1
|
UTSW |
5 |
72,266,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Gabrb1
|
UTSW |
5 |
72,266,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Gabrb1
|
UTSW |
5 |
72,266,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Gabrb1
|
UTSW |
5 |
72,265,694 (GRCm39) |
splice site |
probably null |
|
|
R1832:Gabrb1
|
UTSW |
5 |
72,279,281 (GRCm39) |
splice site |
probably null |
|
|
R1961:Gabrb1
|
UTSW |
5 |
71,857,679 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2363:Gabrb1
|
UTSW |
5 |
72,026,916 (GRCm39) |
nonsense |
probably null |
|
|
R4686:Gabrb1
|
UTSW |
5 |
71,857,365 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4840:Gabrb1
|
UTSW |
5 |
71,858,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Gabrb1
|
UTSW |
5 |
72,026,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Gabrb1
|
UTSW |
5 |
72,294,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Gabrb1
|
UTSW |
5 |
72,026,922 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5270:Gabrb1
|
UTSW |
5 |
72,265,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Gabrb1
|
UTSW |
5 |
72,294,105 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5407:Gabrb1
|
UTSW |
5 |
72,279,364 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5621:Gabrb1
|
UTSW |
5 |
72,266,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Gabrb1
|
UTSW |
5 |
72,293,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6236:Gabrb1
|
UTSW |
5 |
72,265,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Gabrb1
|
UTSW |
5 |
72,187,241 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7411:Gabrb1
|
UTSW |
5 |
72,279,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8375:Gabrb1
|
UTSW |
5 |
72,187,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9161:Gabrb1
|
UTSW |
5 |
72,187,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9474:Gabrb1
|
UTSW |
5 |
72,265,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Gabrb1
|
UTSW |
5 |
72,279,363 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2016-08-02 |
Incidental Mutation