Incidental Mutation 'IGL00479:Gnai3'
| ID |
6780 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gnai3
|
| Ensembl Gene |
ENSMUSG00000000001 |
| Gene Name |
G protein subunit alpha i3 |
| Synonyms |
Galphai3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108014596-108053462 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 108023073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000001]
|
| AlphaFold |
Q9DC51 |
| PDB Structure |
Crystal structure of p115RhoGEF RGS domain in complex with G alpha 13 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000001
|
| SMART Domains |
Protein: ENSMUSP00000000001
Gene: ENSMUSG00000000001
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
4.43e-218 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal cardiac function and beta-adrenergic sensitivity. Mice homozygous for a different knock-out allele exhibit enhanced T cell migration toward CXCR3 agonists. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
C |
4: 156,255,029 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
A |
G |
17: 26,010,418 (GRCm39) |
Y104H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,119,367 (GRCm39) |
K651E |
probably damaging |
Het |
| Atpaf2 |
A |
T |
11: 60,300,410 (GRCm39) |
|
probably null |
Het |
| Cd177 |
G |
T |
7: 24,457,440 (GRCm39) |
S200R |
probably benign |
Het |
| Cd209g |
A |
T |
8: 4,185,622 (GRCm39) |
T19S |
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,516,792 (GRCm39) |
W290R |
probably damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,489 (GRCm39) |
L491P |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,458,843 (GRCm39) |
D3765G |
probably damaging |
Het |
| Dpy19l4 |
T |
G |
4: 11,290,411 (GRCm39) |
M327L |
probably benign |
Het |
| Eya3 |
G |
A |
4: 132,431,709 (GRCm39) |
G314D |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,657,632 (GRCm39) |
T503I |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,925,628 (GRCm39) |
S370P |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,241 (GRCm39) |
S45T |
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,276,381 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,834 (GRCm39) |
Y81C |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Homer1 |
G |
T |
13: 93,483,156 (GRCm39) |
R81L |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,171,544 (GRCm39) |
|
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,475,909 (GRCm39) |
I649T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,659,094 (GRCm39) |
N26S |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,315,204 (GRCm39) |
L310P |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,414,755 (GRCm39) |
L369P |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,853,917 (GRCm39) |
K844N |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,394 (GRCm39) |
T233A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,055 (GRCm39) |
T274A |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,734,456 (GRCm39) |
Y125C |
probably damaging |
Het |
|
| Other mutations in Gnai3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Gnai3
|
APN |
3 |
108,016,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Gnai3
|
APN |
3 |
108,025,660 (GRCm39) |
missense |
probably benign |
|
|
IGL03067:Gnai3
|
APN |
3 |
108,025,609 (GRCm39) |
splice site |
probably benign |
|
|
PIT4791001:Gnai3
|
UTSW |
3 |
108,025,621 (GRCm39) |
missense |
probably benign |
|
|
R0388:Gnai3
|
UTSW |
3 |
108,023,073 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Gnai3
|
UTSW |
3 |
108,030,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1696:Gnai3
|
UTSW |
3 |
108,016,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Gnai3
|
UTSW |
3 |
108,025,723 (GRCm39) |
missense |
probably benign |
|
|
R2057:Gnai3
|
UTSW |
3 |
108,019,812 (GRCm39) |
missense |
probably benign |
|
|
R3744:Gnai3
|
UTSW |
3 |
108,016,714 (GRCm39) |
splice site |
probably benign |
|
|
R5268:Gnai3
|
UTSW |
3 |
108,030,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6644:Gnai3
|
UTSW |
3 |
108,030,852 (GRCm39) |
splice site |
probably null |
|
|
R7527:Gnai3
|
UTSW |
3 |
108,025,693 (GRCm39) |
missense |
|
|
|
R7544:Gnai3
|
UTSW |
3 |
108,025,702 (GRCm39) |
missense |
|
|
|
R9112:Gnai3
|
UTSW |
3 |
108,030,990 (GRCm39) |
missense |
|
|
|
| Posted On |
2012-04-20 |
Incidental Mutation