Incidental Mutation 'IGL01534:Gabrb1'
ID |
89871 |
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 # |
IGL01534
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
71815456-72306380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72026772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 91
(S91T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031122]
[ENSMUST00000199967]
|
AlphaFold |
P50571 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031122
AA Change: S91T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031122 Gene: ENSMUSG00000029212 AA Change: S91T
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 benign
Transcript: ENSMUST00000199967
AA Change: S58T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000143682 Gene: ENSMUSG00000029212 AA Change: S58T
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
C |
9: 122,197,146 (GRCm39) |
L111P |
possibly damaging |
Het |
Adck5 |
C |
A |
15: 76,478,926 (GRCm39) |
H383Q |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,147,830 (GRCm39) |
|
probably benign |
Het |
Asns |
T |
A |
6: 7,675,397 (GRCm39) |
H535L |
probably benign |
Het |
Atf5 |
A |
G |
7: 44,462,462 (GRCm39) |
S221P |
probably damaging |
Het |
Atr |
T |
C |
9: 95,747,599 (GRCm39) |
Y294H |
probably damaging |
Het |
B230307C23Rik |
A |
G |
16: 97,809,961 (GRCm39) |
|
probably benign |
Het |
C1qtnf6 |
C |
T |
15: 78,409,416 (GRCm39) |
E144K |
probably benign |
Het |
Casp8ap2 |
C |
T |
4: 32,648,134 (GRCm39) |
|
probably benign |
Het |
Cd48 |
C |
A |
1: 171,523,307 (GRCm39) |
P50Q |
possibly damaging |
Het |
Cnnm4 |
T |
C |
1: 36,538,596 (GRCm39) |
Y593H |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,144,019 (GRCm39) |
R569Q |
probably benign |
Het |
Cubn |
A |
T |
2: 13,470,744 (GRCm39) |
C549* |
probably null |
Het |
Dsg1a |
T |
A |
18: 20,474,053 (GRCm39) |
M1042K |
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,114,651 (GRCm39) |
T835S |
probably damaging |
Het |
Eif3c |
T |
C |
7: 126,156,867 (GRCm39) |
T389A |
probably benign |
Het |
Erlin2 |
G |
T |
8: 27,521,985 (GRCm39) |
E177* |
probably null |
Het |
Grik3 |
T |
C |
4: 125,579,983 (GRCm39) |
V576A |
probably damaging |
Het |
Gtpbp2 |
T |
A |
17: 46,474,430 (GRCm39) |
Y70N |
probably damaging |
Het |
Idh3a |
T |
A |
9: 54,508,506 (GRCm39) |
|
probably benign |
Het |
Ift74 |
G |
A |
4: 94,568,181 (GRCm39) |
R406H |
probably benign |
Het |
Kcna7 |
C |
A |
7: 45,055,935 (GRCm39) |
N50K |
probably damaging |
Het |
Kcnd2 |
T |
C |
6: 21,726,144 (GRCm39) |
S546P |
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,303,986 (GRCm39) |
D134N |
probably damaging |
Het |
Mcm2 |
A |
G |
6: 88,864,700 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
T |
C |
7: 3,288,463 (GRCm39) |
Y683C |
probably benign |
Het |
Or14j3 |
A |
T |
17: 37,900,963 (GRCm39) |
Y94N |
possibly damaging |
Het |
Or2d4 |
T |
A |
7: 106,543,546 (GRCm39) |
I221F |
probably damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,228 (GRCm39) |
I220T |
probably damaging |
Het |
Or9i1 |
A |
T |
19: 13,839,283 (GRCm39) |
N42I |
probably damaging |
Het |
Or9i14 |
T |
A |
19: 13,792,666 (GRCm39) |
H96L |
probably benign |
Het |
P2rx7 |
A |
C |
5: 122,814,761 (GRCm39) |
I409L |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
Rabggtb |
A |
G |
3: 153,615,896 (GRCm39) |
|
probably null |
Het |
Rgs4 |
A |
T |
1: 169,572,085 (GRCm39) |
C71* |
probably null |
Het |
Rnase10 |
T |
C |
14: 51,245,436 (GRCm39) |
F5L |
probably benign |
Het |
Scn11a |
T |
A |
9: 119,609,888 (GRCm39) |
T987S |
probably benign |
Het |
Shox2 |
A |
C |
3: 66,885,696 (GRCm39) |
D126E |
probably benign |
Het |
Slc12a1 |
A |
G |
2: 125,059,830 (GRCm39) |
D910G |
probably damaging |
Het |
Slc15a1 |
C |
T |
14: 121,702,364 (GRCm39) |
C594Y |
possibly damaging |
Het |
Spock2 |
C |
T |
10: 59,962,883 (GRCm39) |
|
probably benign |
Het |
Togaram1 |
G |
T |
12: 65,013,321 (GRCm39) |
D191Y |
probably damaging |
Het |
Triml2 |
T |
C |
8: 43,640,660 (GRCm39) |
V172A |
probably benign |
Het |
Tubb3 |
C |
T |
8: 124,147,705 (GRCm39) |
R213C |
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,313,844 (GRCm39) |
V379E |
probably damaging |
Het |
Zfp446 |
C |
T |
7: 12,713,493 (GRCm39) |
P153L |
probably damaging |
Het |
Zfp608 |
A |
T |
18: 55,032,004 (GRCm39) |
N645K |
probably damaging |
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 |
|
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 |
IGL03278:Gabrb1
|
APN |
5 |
72,026,939 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-03 |