Incidental Mutation 'R3859:Gnao1'
| ID |
276291 |
| 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 |
040787-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94536781-94696016 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 94538273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034198]
[ENSMUST00000125716]
[ENSMUST00000137202]
[ENSMUST00000138659]
|
| AlphaFold |
P18872 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034198
|
| SMART Domains |
Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
2.34e-226 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125695
|
| 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: 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212638
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
95% (36/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,090,218 (GRCm39) |
N305S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,281,462 (GRCm39) |
D35Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,857 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Dnajc5b |
G |
T |
3: 19,628,966 (GRCm39) |
G87* |
probably null |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,908,524 (GRCm39) |
Q2493* |
probably null |
Het |
| Fbl |
G |
A |
7: 27,873,935 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,012,930 (GRCm39) |
G88S |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Hspa14 |
A |
T |
2: 3,495,616 (GRCm39) |
C304* |
probably null |
Het |
| Itih4 |
T |
C |
14: 30,614,286 (GRCm39) |
L412P |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,290 (GRCm39) |
L995P |
probably damaging |
Het |
| Krt12 |
G |
A |
11: 99,309,319 (GRCm39) |
L314F |
possibly damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,405 (GRCm39) |
M1T |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,313,096 (GRCm39) |
L349Q |
probably benign |
Het |
| Pcdha6 |
C |
T |
18: 37,102,984 (GRCm39) |
P6S |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,630 (GRCm39) |
E487G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,797,066 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
C |
T |
13: 27,742,147 (GRCm39) |
G238E |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,587 (GRCm39) |
F75S |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,990,286 (GRCm39) |
T719A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,646 (GRCm39) |
P391L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,976,558 (GRCm39) |
L1241P |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,193,245 (GRCm39) |
F402L |
possibly damaging |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,074,204 (GRCm39) |
F245V |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,487 (GRCm39) |
E123G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,790,923 (GRCm39) |
I373M |
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 |
|
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 |
|
|
|
R8426:Gnao1
|
UTSW |
8 |
94,622,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- CAAAGACGTGAAATTACTCCTGCTG -3'
(R):5'- GCAACCTCGGGTTTCTTCTG -3'
Sequencing Primer
(F):5'- AATTACTCCTGCTGGGTAAGGACC -3'
(R):5'- CTGTGTGTGCGCGAATTAAAAACC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation