Incidental Mutation 'IGL02928:Gnb1'
| ID |
363985 |
| 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 # |
IGL02928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 155637863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 196
(T196P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030940]
[ENSMUST00000105616]
[ENSMUST00000165335]
[ENSMUST00000176637]
[ENSMUST00000177094]
|
| AlphaFold |
P62874 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030940
AA Change: T196P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: T196P
| 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: T196P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: T196P
| 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: T196P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: T196P
| 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: T196P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: T196P
| 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: T196P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: T196P
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,980,327 (GRCm39) |
Y92C |
probably damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,802 (GRCm39) |
L407F |
possibly damaging |
Het |
| Abcc3 |
G |
T |
11: 94,252,132 (GRCm39) |
T817K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,977,539 (GRCm39) |
|
probably benign |
Het |
| Arhgef16 |
G |
T |
4: 154,367,350 (GRCm39) |
Q352K |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,065,716 (GRCm39) |
I68V |
probably benign |
Het |
| Col5a2 |
G |
A |
1: 45,424,180 (GRCm39) |
A1082V |
probably benign |
Het |
| Col6a1 |
A |
T |
10: 76,545,500 (GRCm39) |
Y991N |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,798 (GRCm39) |
I1021T |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,303,168 (GRCm39) |
|
probably null |
Het |
| Ern1 |
A |
G |
11: 106,296,705 (GRCm39) |
|
probably benign |
Het |
| Fgf18 |
A |
T |
11: 33,074,674 (GRCm39) |
I99N |
possibly damaging |
Het |
| Glp1r |
A |
G |
17: 31,137,911 (GRCm39) |
D114G |
probably benign |
Het |
| Gm10553 |
A |
G |
1: 85,077,933 (GRCm39) |
K17E |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,250 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,412 (GRCm39) |
D35V |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,517,711 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,025,863 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,659,715 (GRCm39) |
Q307L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,242 (GRCm39) |
*464L |
probably null |
Het |
| Mrps7 |
C |
T |
11: 115,495,910 (GRCm39) |
Q113* |
probably null |
Het |
| Npat |
A |
C |
9: 53,478,138 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,854,605 (GRCm39) |
I852V |
probably damaging |
Het |
| Or10ak14 |
A |
G |
4: 118,611,697 (GRCm39) |
F15L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,506,273 (GRCm39) |
E232G |
probably benign |
Het |
| P2rx6 |
T |
A |
16: 17,382,901 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,548,346 (GRCm39) |
N466K |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,280,805 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,453,458 (GRCm39) |
V51A |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,642,923 (GRCm39) |
S175P |
possibly damaging |
Het |
| Rd3l |
T |
C |
12: 111,946,012 (GRCm39) |
S156G |
probably benign |
Het |
| Reck |
C |
T |
4: 43,912,078 (GRCm39) |
H196Y |
possibly damaging |
Het |
| Rft1 |
T |
A |
14: 30,385,072 (GRCm39) |
V165D |
possibly damaging |
Het |
| Rin2 |
A |
G |
2: 145,701,926 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
A |
G |
1: 74,168,241 (GRCm39) |
|
probably benign |
Het |
| Scfd2 |
G |
A |
5: 74,691,832 (GRCm39) |
T150M |
probably damaging |
Het |
| Sgca |
A |
G |
11: 94,863,129 (GRCm39) |
W75R |
probably damaging |
Het |
| Sirt7 |
A |
T |
11: 120,511,042 (GRCm39) |
D318E |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,424,976 (GRCm39) |
I14L |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,222,959 (GRCm39) |
A255T |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,691,736 (GRCm39) |
D485G |
probably damaging |
Het |
| Sycp1 |
T |
A |
3: 102,726,134 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,917,997 (GRCm39) |
V1922A |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,369,674 (GRCm39) |
V365D |
probably damaging |
Het |
| Upk3b |
A |
G |
5: 136,067,995 (GRCm39) |
E62G |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,980,372 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,410 (GRCm39) |
F188S |
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 |
|
|
IGL02470:Gnb1
|
APN |
4 |
155,611,970 (GRCm39) |
splice site |
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 |
2015-12-18 |
Incidental Mutation