Incidental Mutation 'R5648:Gnao1'
| ID |
441274 |
| 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 |
043169-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5648 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94536781-94696016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94676070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 116
(Y116F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034198]
[ENSMUST00000125716]
[ENSMUST00000137202]
[ENSMUST00000138659]
[ENSMUST00000142466]
[ENSMUST00000149530]
|
| AlphaFold |
P18872 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034198
AA Change: Y168F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
AA Change: Y168F
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
2.34e-226 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125716
AA Change: Y168F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748
AA Change: Y168F
| 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 |
noncoding transcript
Transcript: ENSMUST00000130974
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137202
AA Change: Y116F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119220
Gene: ENSMUSG00000031748
AA Change: Y116F
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
1 |
179 |
1.18e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138659
AA Change: Y168F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142466
|
| SMART Domains |
Protein: ENSMUSP00000118463
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
1 |
107 |
1.53e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149530
|
| SMART Domains |
Protein: ENSMUSP00000115007
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G-alpha
|
1 |
67 |
4.2e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
| Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
| Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
| Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
| Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
| Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
| Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
| Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
| Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
| Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
| Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
| Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
| Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
| Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
probably 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 |
|
|
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'- TAAGACCCTCAGGCTCTCTC -3'
(R):5'- GCAAGACACTACCTGGCTATCC -3'
Sequencing Primer
(F):5'- CTTGCTTGTCCCCACATCCATTG -3'
(R):5'- GCAGGGCATGAACATTCCCTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation