Incidental Mutation 'IGL02587:Gnao1'
ID 299592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnao1
Ensembl Gene ENSMUSG00000031748
Gene Name guanine nucleotide binding protein, alpha O
Synonyms Galphao, Go alpha, alphaO
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02587
Quality Score
Status
Chromosome 8
Chromosomal Location 94536781-94696016 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 94677067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034198] [ENSMUST00000125716] [ENSMUST00000137202] [ENSMUST00000138659] [ENSMUST00000142466] [ENSMUST00000149530]
AlphaFold P18872
Predicted Effect probably benign
Transcript: ENSMUST00000034198
SMART Domains Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 13 353 2.34e-226 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125716
SMART Domains Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 13 353 2.34e-226 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127900
SMART Domains Protein: ENSMUSP00000116826
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
Pfam:G-alpha 1 101 9.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130974
Predicted Effect probably benign
Transcript: ENSMUST00000137202
SMART Domains Protein: ENSMUSP00000119220
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 1 179 1.18e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138659
Predicted Effect probably benign
Transcript: ENSMUST00000142466
SMART Domains Protein: ENSMUSP00000118463
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 1 107 1.53e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149530
SMART Domains Protein: ENSMUSP00000115007
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
Pfam:G-alpha 1 67 4.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144451
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G A 4: 144,429,969 (GRCm39) T340I possibly damaging Het
Acot10 A T 15: 20,665,883 (GRCm39) V286E possibly damaging Het
Bpifa6 T C 2: 153,831,130 (GRCm39) L232P probably damaging Het
Calr4 A G 4: 109,096,134 (GRCm39) N104S possibly damaging Het
Cdc42bpa A G 1: 179,921,510 (GRCm39) E550G possibly damaging Het
Cfhr4 G A 1: 139,629,668 (GRCm39) T712I probably damaging Het
D3Ertd751e T A 3: 41,708,287 (GRCm39) N141K probably benign Het
Emilin2 A G 17: 71,587,851 (GRCm39) probably benign Het
Eml6 T C 11: 29,734,236 (GRCm39) E1168G possibly damaging Het
Fbxo48 T C 11: 16,903,659 (GRCm39) I95T probably benign Het
Fpr3 A T 17: 18,190,953 (GRCm39) T75S probably benign Het
Gm5145 A G 17: 20,791,452 (GRCm39) K277E probably damaging Het
Krt8 G A 15: 101,907,367 (GRCm39) R239C probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Neil1 C T 9: 57,052,263 (GRCm39) R195H probably damaging Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Pi4ka C A 16: 17,135,217 (GRCm39) G946W probably damaging Het
Plcg2 A T 8: 118,284,852 (GRCm39) N159I possibly damaging Het
Rad54l A G 4: 115,962,994 (GRCm39) Y335H probably damaging Het
Rgsl1 C T 1: 153,675,684 (GRCm39) R159H probably damaging Het
Scn11a T C 9: 119,634,750 (GRCm39) D357G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Timeless A G 10: 128,075,785 (GRCm39) M6V probably damaging Het
Vps16 T C 2: 130,281,636 (GRCm39) probably null Het
Zfp955b C A 17: 33,519,624 (GRCm39) Q31K probably damaging Het
Other mutations in Gnao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Gnao1 APN 8 94,538,308 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2015-04-16