Incidental Mutation 'R8426:Gnao1'
| ID |
653481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnao1
|
| Ensembl Gene |
ENSMUSG00000031748 |
| Gene Name |
guanine nucleotide binding protein, alpha O |
| Synonyms |
Galphao, Go alpha, alphaO |
| MMRRC Submission |
067820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94536781-94696016 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 94622857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034198]
[ENSMUST00000125716]
[ENSMUST00000137202]
[ENSMUST00000138659]
|
| AlphaFold |
P18872 |
| PDB Structure |
Molecular architecture of Galphao and the structural basis for RGS16-mediated deactivation [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000034198
|
| SMART Domains |
Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
2.34e-226 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125716
|
| SMART Domains |
Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
2.34e-226 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127900
|
| SMART Domains |
Protein: ENSMUSP00000116826
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G-alpha
|
1 |
101 |
9.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137202
|
| SMART Domains |
Protein: ENSMUSP00000119220
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
1 |
179 |
1.18e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138659
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice lacking both isoforms exhibit reduced survival, sterility, low body weight, hyperalgesia, tremors, turning behavior, impaired locomotion, altered channel response and improved glucose tolerance. Isoform-specific deletion may lead to increased insulin release and abnormal eye electrophysiology. [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 |
|---|
| Abcb11 |
T |
C |
2: 69,155,606 (GRCm39) |
H32R |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,911,632 (GRCm39) |
|
probably null |
Het |
| Aicda |
A |
T |
6: 122,538,150 (GRCm39) |
N103Y |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,003,772 (GRCm39) |
E211G |
probably damaging |
Het |
| Casp9 |
T |
C |
4: 141,540,936 (GRCm39) |
Y435H |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,493,266 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,071 (GRCm39) |
N31S |
probably benign |
Het |
| Elapor1 |
G |
A |
3: 108,378,742 (GRCm39) |
A352V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,641,231 (GRCm39) |
T114A |
probably benign |
Het |
| Iffo2 |
A |
T |
4: 139,342,291 (GRCm39) |
Y451F |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,150,239 (GRCm39) |
W258* |
probably null |
Het |
| Ipo11 |
T |
C |
13: 106,978,678 (GRCm39) |
D834G |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,067,358 (GRCm39) |
D853G |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,979,487 (GRCm39) |
E1655G |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,671,841 (GRCm39) |
S955N |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,388,318 (GRCm39) |
I550V |
|
Het |
| Mov10l1 |
T |
A |
15: 88,881,608 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,852,294 (GRCm39) |
D798E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,799,576 (GRCm39) |
I1380V |
probably damaging |
Het |
| Neu2 |
C |
T |
1: 87,524,387 (GRCm39) |
S124L |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,119,870 (GRCm39) |
I543V |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 88,762,097 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ogn |
C |
T |
13: 49,774,567 (GRCm39) |
R237C |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,146 (GRCm39) |
L69P |
probably damaging |
Het |
| Or8b46 |
A |
T |
9: 38,450,620 (GRCm39) |
Y143F |
probably damaging |
Het |
| Phf24 |
C |
T |
4: 42,933,785 (GRCm39) |
Q19* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ptch2 |
G |
T |
4: 116,965,369 (GRCm39) |
S318I |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,769 (GRCm39) |
M356T |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,382,105 (GRCm39) |
N529D |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,755,598 (GRCm39) |
D261E |
probably damaging |
Het |
| Tcerg1 |
G |
A |
18: 42,681,466 (GRCm39) |
V538I |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,530,131 (GRCm39) |
M1746K |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,654 (GRCm39) |
I234V |
probably benign |
Het |
| Tm9sf4 |
G |
A |
2: 153,045,736 (GRCm39) |
G536D |
probably damaging |
Het |
| Tmprss11c |
G |
T |
5: 86,379,677 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,210,016 (GRCm39) |
S440Y |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,470 (GRCm39) |
D72G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,382 (GRCm39) |
N239D |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,239 (GRCm39) |
H412Q |
possibly damaging |
Het |
|
| Other mutations in Gnao1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00537:Gnao1
|
APN |
8 |
94,538,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02587:Gnao1
|
APN |
8 |
94,677,067 (GRCm39) |
splice site |
probably benign |
|
|
R1439:Gnao1
|
UTSW |
8 |
94,690,065 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1966:Gnao1
|
UTSW |
8 |
94,670,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3859:Gnao1
|
UTSW |
8 |
94,538,273 (GRCm39) |
splice site |
probably benign |
|
|
R4579:Gnao1
|
UTSW |
8 |
94,693,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Gnao1
|
UTSW |
8 |
94,538,004 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4786:Gnao1
|
UTSW |
8 |
94,670,931 (GRCm39) |
missense |
probably benign |
|
|
R5648:Gnao1
|
UTSW |
8 |
94,676,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Gnao1
|
UTSW |
8 |
94,622,873 (GRCm39) |
missense |
probably benign |
|
|
R5964:Gnao1
|
UTSW |
8 |
94,693,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Gnao1
|
UTSW |
8 |
94,670,972 (GRCm39) |
missense |
|
|
|
R8551:Gnao1
|
UTSW |
8 |
94,682,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8695:Gnao1
|
UTSW |
8 |
94,682,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Gnao1
|
UTSW |
8 |
94,538,045 (GRCm39) |
missense |
probably benign |
|
|
R8901:Gnao1
|
UTSW |
8 |
94,694,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9246:Gnao1
|
UTSW |
8 |
94,676,967 (GRCm39) |
missense |
|
|
|
R9523:Gnao1
|
UTSW |
8 |
94,622,861 (GRCm39) |
missense |
|
|
|
R9634:Gnao1
|
UTSW |
8 |
94,682,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTACTCAGTCACTCAGGTAAATGG -3'
(R):5'- TCACAAAGGCCTCTTTTCGC -3'
Sequencing Primer
(F):5'- CAGTCACTCAGGTAAATGGTTTTTC -3'
(R):5'- AAAGGCCTCTTTTCGCTGTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation