Incidental Mutation 'IGL02052:Gnb1'
ID |
185123 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gnb1
|
Ensembl Gene |
ENSMUSG00000029064 |
Gene Name |
guanine nucleotide binding protein (G protein), beta 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02052
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 155618148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030940]
[ENSMUST00000105616]
[ENSMUST00000165335]
[ENSMUST00000176411]
[ENSMUST00000176637]
[ENSMUST00000177094]
|
AlphaFold |
P62874 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030940
|
SMART Domains |
Protein: ENSMUSP00000030940 Gene: ENSMUSG00000029064
Domain | Start | End | E-Value | Type |
WD40
|
44 |
83 |
1.05e-7 |
SMART |
WD40
|
86 |
125 |
1.06e-3 |
SMART |
WD40
|
132 |
170 |
1.93e-6 |
SMART |
WD40
|
173 |
212 |
1.23e-8 |
SMART |
WD40
|
215 |
254 |
5.06e-10 |
SMART |
WD40
|
257 |
298 |
1.88e-4 |
SMART |
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105616
|
SMART Domains |
Protein: ENSMUSP00000101241 Gene: ENSMUSG00000029064
Domain | Start | End | E-Value | Type |
WD40
|
44 |
83 |
1.05e-7 |
SMART |
WD40
|
86 |
125 |
1.06e-3 |
SMART |
WD40
|
132 |
170 |
1.93e-6 |
SMART |
WD40
|
173 |
212 |
1.23e-8 |
SMART |
WD40
|
215 |
254 |
5.06e-10 |
SMART |
WD40
|
257 |
298 |
1.88e-4 |
SMART |
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165335
|
SMART Domains |
Protein: ENSMUSP00000130123 Gene: ENSMUSG00000029064
Domain | Start | End | E-Value | Type |
WD40
|
44 |
83 |
1.05e-7 |
SMART |
WD40
|
86 |
125 |
1.06e-3 |
SMART |
WD40
|
132 |
170 |
1.93e-6 |
SMART |
WD40
|
173 |
212 |
1.23e-8 |
SMART |
WD40
|
215 |
254 |
5.06e-10 |
SMART |
WD40
|
257 |
298 |
1.88e-4 |
SMART |
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175688
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176411
|
SMART Domains |
Protein: ENSMUSP00000135769 Gene: ENSMUSG00000029064
Domain | Start | End | E-Value | Type |
WD40
|
44 |
83 |
1.05e-7 |
SMART |
Blast:WD40
|
86 |
108 |
5e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176637
|
SMART Domains |
Protein: ENSMUSP00000135091 Gene: ENSMUSG00000029064
Domain | Start | End | E-Value | Type |
WD40
|
44 |
83 |
1.05e-7 |
SMART |
WD40
|
86 |
125 |
1.06e-3 |
SMART |
WD40
|
132 |
170 |
1.93e-6 |
SMART |
WD40
|
173 |
212 |
1.23e-8 |
SMART |
WD40
|
215 |
254 |
5.06e-10 |
SMART |
WD40
|
257 |
298 |
1.88e-4 |
SMART |
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177094
|
SMART Domains |
Protein: ENSMUSP00000135492 Gene: ENSMUSG00000029064
Domain | Start | End | E-Value | Type |
WD40
|
44 |
83 |
1.05e-7 |
SMART |
WD40
|
86 |
125 |
1.06e-3 |
SMART |
WD40
|
132 |
170 |
1.93e-6 |
SMART |
WD40
|
173 |
212 |
1.23e-8 |
SMART |
WD40
|
215 |
254 |
5.06e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] PHENOTYPE: Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. [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 |
Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
Cntn1 |
A |
C |
15: 92,189,584 (GRCm39) |
I636L |
possibly damaging |
Het |
Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
Ntn4 |
T |
G |
10: 93,543,211 (GRCm39) |
N312K |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,637,983 (GRCm39) |
V365A |
possibly damaging |
Het |
Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
Pramel21 |
A |
C |
4: 143,341,643 (GRCm39) |
D24A |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
Slfn4 |
T |
C |
11: 83,077,800 (GRCm39) |
L196P |
possibly damaging |
Het |
Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
Wdfy1 |
A |
G |
1: 79,692,661 (GRCm39) |
S219P |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly damaging |
Het |
|
Other mutations in Gnb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01405:Gnb1
|
APN |
4 |
155,627,645 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02164:Gnb1
|
APN |
4 |
155,641,631 (GRCm39) |
splice site |
probably null |
|
IGL02470:Gnb1
|
APN |
4 |
155,611,970 (GRCm39) |
splice site |
probably benign |
|
IGL02928:Gnb1
|
APN |
4 |
155,637,863 (GRCm39) |
missense |
probably benign |
|
IGL03293:Gnb1
|
APN |
4 |
155,625,004 (GRCm39) |
splice site |
probably benign |
|
R0034:Gnb1
|
UTSW |
4 |
155,636,146 (GRCm39) |
missense |
probably benign |
0.03 |
R0325:Gnb1
|
UTSW |
4 |
155,636,140 (GRCm39) |
missense |
probably benign |
0.21 |
R1538:Gnb1
|
UTSW |
4 |
155,636,171 (GRCm39) |
missense |
probably benign |
0.00 |
R3498:Gnb1
|
UTSW |
4 |
155,639,483 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4177:Gnb1
|
UTSW |
4 |
155,625,113 (GRCm39) |
intron |
probably benign |
|
R4746:Gnb1
|
UTSW |
4 |
155,627,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Gnb1
|
UTSW |
4 |
155,627,524 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5727:Gnb1
|
UTSW |
4 |
155,639,559 (GRCm39) |
missense |
probably benign |
0.00 |
R6958:Gnb1
|
UTSW |
4 |
155,627,651 (GRCm39) |
critical splice donor site |
probably null |
|
R7022:Gnb1
|
UTSW |
4 |
155,637,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R8321:Gnb1
|
UTSW |
4 |
155,639,482 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9217:Gnb1
|
UTSW |
4 |
155,625,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2014-05-07 |