Incidental Mutation 'IGL01405:Gnb1'
| ID |
79782 |
| 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 # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155627645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 142
(H142R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030940]
[ENSMUST00000105616]
[ENSMUST00000165335]
[ENSMUST00000176411]
[ENSMUST00000176637]
[ENSMUST00000177094]
|
| AlphaFold |
P62874 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030940
AA Change: H142R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: H142R
| 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 damaging
Transcript: ENSMUST00000105616
AA Change: H142R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: H142R
| 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 damaging
Transcript: ENSMUST00000165335
AA Change: H142R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: H142R
| 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 damaging
Transcript: ENSMUST00000176637
AA Change: H142R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: H142R
| 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 damaging
Transcript: ENSMUST00000177094
AA Change: H142R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: H142R
| 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 |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
Het |
|
| Other mutations in Gnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation