Incidental Mutation 'R4177:Gnb1'
| ID |
319550 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 155625113 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 |
noncoding transcript
Transcript: ENSMUST00000175705
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aicda |
A |
T |
6: 122,538,043 (GRCm39) |
D67V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,158,510 (GRCm39) |
R182G |
probably null |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,120 (GRCm39) |
D16G |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,294 (GRCm39) |
V506A |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,400,816 (GRCm39) |
Q441L |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,937,663 (GRCm39) |
M700K |
possibly damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,394,910 (GRCm39) |
Y142C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,962,394 (GRCm39) |
M602T |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,044,013 (GRCm39) |
R254* |
probably null |
Het |
| Ednra |
A |
C |
8: 78,401,677 (GRCm39) |
I204M |
possibly damaging |
Het |
| Fabp2 |
A |
G |
3: 122,690,547 (GRCm39) |
T77A |
possibly damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Gpc2 |
T |
C |
5: 138,275,621 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,732,280 (GRCm39) |
|
probably benign |
Het |
| Lypla2 |
T |
C |
4: 135,696,403 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
T |
8: 116,433,210 (GRCm39) |
Y131* |
probably null |
Het |
| Mfsd4a |
T |
A |
1: 131,968,295 (GRCm39) |
H335L |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,302 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,734,137 (GRCm39) |
Q342L |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,955,513 (GRCm39) |
|
probably null |
Het |
| Or5t15 |
A |
T |
2: 86,681,745 (GRCm39) |
M99K |
possibly damaging |
Het |
| Pomt1 |
A |
G |
2: 32,138,689 (GRCm39) |
N435S |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,203 (GRCm39) |
I257V |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,241,296 (GRCm39) |
S5* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,327,083 (GRCm39) |
Y59N |
probably damaging |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,532,616 (GRCm39) |
T462M |
possibly damaging |
Het |
| Selenoo |
C |
T |
15: 88,983,662 (GRCm39) |
|
probably benign |
Het |
| Sptb |
G |
C |
12: 76,659,953 (GRCm39) |
D982E |
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubald1 |
A |
G |
16: 4,693,745 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
T |
C |
10: 71,094,033 (GRCm39) |
K101R |
probably damaging |
Het |
| Unc5cl |
A |
G |
17: 48,769,298 (GRCm39) |
T261A |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,798,395 (GRCm39) |
K197N |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,225 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfyve19 |
A |
G |
2: 119,046,693 (GRCm39) |
T296A |
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 |
|
IGL02052:Gnb1
|
APN |
4 |
155,618,148 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAGCATTGAGATCCTCTTTC -3'
(R):5'- AGTTTCCAGTCAAAACTAGGAGTG -3'
Sequencing Primer
(F):5'- AAGCTCTAGTTGGTCACC -3'
(R):5'- TCAAAACTAGGAGTGGAGTGTAGCTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation