Incidental Mutation 'R5727:Gnb1'
ID |
452551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gnb1
|
Ensembl Gene |
ENSMUSG00000029064 |
Gene Name |
guanine nucleotide binding protein (G protein), beta 1 |
Synonyms |
|
MMRRC Submission |
043190-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5727 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155639559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 263
(T263A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030940]
[ENSMUST00000105616]
[ENSMUST00000165335]
[ENSMUST00000176637]
[ENSMUST00000177094]
|
AlphaFold |
P62874 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030940
AA Change: T263A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000030940 Gene: ENSMUSG00000029064 AA Change: T263A
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
AA Change: T263A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101241 Gene: ENSMUSG00000029064 AA Change: T263A
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
AA Change: T263A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130123 Gene: ENSMUSG00000029064 AA Change: T263A
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: ENSMUST00000175705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176308
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176637
AA Change: T263A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135091 Gene: ENSMUSG00000029064 AA Change: T263A
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
AA Change: T263A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135492 Gene: ENSMUSG00000029064 AA Change: T263A
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
C |
A |
14: 29,712,838 (GRCm39) |
L494M |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,994,111 (GRCm39) |
A5132S |
probably damaging |
Het |
Cadps |
G |
A |
14: 12,486,525 (GRCm38) |
Q882* |
probably null |
Het |
Cdhr2 |
G |
A |
13: 54,872,121 (GRCm39) |
V662M |
possibly damaging |
Het |
Cdyl2 |
T |
A |
8: 117,309,907 (GRCm39) |
I350F |
probably damaging |
Het |
Cfap44 |
T |
G |
16: 44,255,805 (GRCm39) |
F966V |
probably damaging |
Het |
Cpxm1 |
G |
A |
2: 130,232,883 (GRCm39) |
R704* |
probably null |
Het |
Dnah11 |
A |
T |
12: 118,090,841 (GRCm39) |
F1034L |
probably damaging |
Het |
Dpep2 |
A |
G |
8: 106,713,075 (GRCm39) |
V440A |
probably benign |
Het |
Ehmt2 |
A |
T |
17: 35,125,008 (GRCm39) |
M11L |
possibly damaging |
Het |
Eml2 |
C |
T |
7: 18,924,685 (GRCm39) |
H185Y |
probably damaging |
Het |
Gm10845 |
T |
A |
14: 80,100,770 (GRCm39) |
|
noncoding transcript |
Het |
Gm8122 |
T |
G |
14: 43,091,477 (GRCm39) |
N97T |
unknown |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Ier5l |
A |
G |
2: 30,363,171 (GRCm39) |
C285R |
possibly damaging |
Het |
Kif21b |
A |
G |
1: 136,097,747 (GRCm39) |
N1336D |
probably damaging |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lama1 |
A |
G |
17: 68,122,219 (GRCm39) |
H2722R |
possibly damaging |
Het |
Mdm2 |
A |
G |
10: 117,538,212 (GRCm39) |
M13T |
possibly damaging |
Het |
Micall1 |
T |
A |
15: 79,014,678 (GRCm39) |
Y685N |
possibly damaging |
Het |
Mthfd1l |
T |
G |
10: 4,053,302 (GRCm39) |
S884A |
possibly damaging |
Het |
Nkiras2 |
A |
G |
11: 100,515,853 (GRCm39) |
Y60C |
probably damaging |
Het |
Oc90 |
T |
G |
15: 65,753,388 (GRCm39) |
R342S |
possibly damaging |
Het |
Or11h23 |
C |
A |
14: 50,947,817 (GRCm39) |
T10K |
possibly damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,544 (GRCm39) |
L162P |
possibly damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,197 (GRCm39) |
R172* |
probably null |
Het |
Or4p20 |
T |
A |
2: 88,253,791 (GRCm39) |
I193F |
probably benign |
Het |
Or9s13 |
A |
G |
1: 92,547,900 (GRCm39) |
N91D |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp9 |
G |
T |
16: 35,784,467 (GRCm39) |
E507* |
probably null |
Het |
Pex13 |
A |
G |
11: 23,605,705 (GRCm39) |
I175T |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,914,370 (GRCm39) |
E604G |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,251,815 (GRCm39) |
|
probably null |
Het |
Rragc |
T |
C |
4: 123,813,828 (GRCm39) |
Y141H |
possibly damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,280 (GRCm39) |
V257A |
probably benign |
Het |
Snx5 |
T |
C |
2: 144,102,674 (GRCm39) |
T80A |
probably benign |
Het |
Sorcs2 |
G |
A |
5: 36,188,630 (GRCm39) |
A826V |
possibly damaging |
Het |
Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
Tmem161b |
T |
A |
13: 84,434,909 (GRCm39) |
S302R |
possibly damaging |
Het |
Ube2o |
A |
T |
11: 116,430,496 (GRCm39) |
F1081I |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,608 (GRCm39) |
I658V |
probably benign |
Het |
Vwa3b |
T |
G |
1: 37,174,600 (GRCm39) |
L672V |
probably benign |
Het |
Wscd2 |
T |
C |
5: 113,715,411 (GRCm39) |
F417S |
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 |
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 |
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'- GCCAGGCAAGTGTTGAATCAG -3'
(R):5'- CCTCTGCTGAGCTATGACATAAC -3'
Sequencing Primer
(F):5'- CAAGTGTTGAATCAGCTGGCC -3'
(R):5'- CTGCTGAGCTATGACATAACTAAGC -3'
|
Posted On |
2017-01-03 |