Incidental Mutation 'IGL02470:Gnb1'
ID |
294707 |
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 # |
IGL02470
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 155611970 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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably 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 |
IGL02052:Gnb1
|
APN |
4 |
155,618,148 (GRCm39) |
splice site |
probably benign |
|
IGL02164:Gnb1
|
APN |
4 |
155,641,631 (GRCm39) |
splice site |
probably null |
|
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 |
2015-04-16 |