Incidental Mutation 'R3744:Gnai3'
| ID |
271117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnai3
|
| Ensembl Gene |
ENSMUSG00000000001 |
| Gene Name |
G protein subunit alpha i3 |
| Synonyms |
Galphai3 |
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108014596-108053462 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 108016714 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
probably benign |
Het |
|
| Other mutations in Gnai3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Gnai3
|
APN |
3 |
108,023,073 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCTAGCTAAGATTCTGCG -3'
(R):5'- ATACATACGAAGAGGCAGCTGC -3'
Sequencing Primer
(F):5'- CTAGCTAAGATTCTGCGTGTTGC -3'
(R):5'- AGGCAGCTGCTTACATTCAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation