Incidental Mutation 'IGL00981:Gnai1'
ID 27540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnai1
Ensembl Gene ENSMUSG00000057614
Gene Name G protein subunit alpha i1
Synonyms Gialpha1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00981
Quality Score
Status
Chromosome 5
Chromosomal Location 18470133-18565353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18472045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 346 (N346T)
Ref Sequence ENSEMBL: ENSMUSP00000074259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074694]
AlphaFold B2RSH2
Predicted Effect probably benign
Transcript: ENSMUST00000074694
AA Change: N346T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614
AA Change: N346T

DomainStartEndE-ValueType
G_alpha 13 353 5.13e-223 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit long term memory defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,586,404 (GRCm39) Q478* probably null Het
Armh4 A T 14: 50,010,447 (GRCm39) L420Q probably damaging Het
Atp7b T C 8: 22,517,543 (GRCm39) probably null Het
Bcan T A 3: 87,905,139 (GRCm39) I2F possibly damaging Het
Boc A G 16: 44,312,164 (GRCm39) S633P probably damaging Het
C2cd6 A G 1: 59,117,104 (GRCm39) S130P probably damaging Het
Cacna1a T C 8: 85,275,182 (GRCm39) F490L probably damaging Het
Carm1 T A 9: 21,498,490 (GRCm39) D469E possibly damaging Het
Cdyl A T 13: 36,000,096 (GRCm39) S126C probably damaging Het
Ceacam5 A T 7: 17,479,458 (GRCm39) I192F probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dlgap5 C T 14: 47,635,925 (GRCm39) E515K probably damaging Het
Eif3a A T 19: 60,755,049 (GRCm39) D1044E unknown Het
Eif3i T A 4: 129,488,862 (GRCm39) Y125F probably benign Het
Kcnd1 C T X: 7,702,672 (GRCm39) T629I probably benign Het
Mcc A T 18: 44,582,416 (GRCm39) N578K probably damaging Het
Ncoa6 C T 2: 155,248,099 (GRCm39) R1735Q probably damaging Het
Nlrp4d A T 7: 10,116,021 (GRCm39) noncoding transcript Het
Nsun5 A T 5: 135,404,249 (GRCm39) Q352L possibly damaging Het
Or14j6 G A 17: 38,215,072 (GRCm39) V212M probably benign Het
Or2d2b C A 7: 106,705,268 (GRCm39) E267* probably null Het
Or2d2b T A 7: 106,705,269 (GRCm39) K266N probably benign Het
Or8g18 A G 9: 39,148,901 (GRCm39) V276A probably benign Het
Pkdrej C T 15: 85,703,857 (GRCm39) G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,990,566 (GRCm39) probably benign Het
Spink1 C T 18: 43,870,159 (GRCm39) probably null Het
Sqle T C 15: 59,198,468 (GRCm39) V464A probably damaging Het
Trav6-4 A T 14: 53,692,153 (GRCm39) T84S probably damaging Het
Trim33 T A 3: 103,259,311 (GRCm39) probably benign Het
Txlng T C X: 161,567,368 (GRCm39) M319V probably benign Het
Wee1 A T 7: 109,738,876 (GRCm39) E582D probably damaging Het
Other mutations in Gnai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Gnai1 APN 5 18,496,617 (GRCm39) missense probably benign 0.00
IGL01717:Gnai1 APN 5 18,496,459 (GRCm39) critical splice donor site probably null
IGL01958:Gnai1 APN 5 18,478,568 (GRCm39) missense probably damaging 1.00
R0238:Gnai1 UTSW 5 18,478,548 (GRCm39) missense probably damaging 1.00
R0238:Gnai1 UTSW 5 18,478,548 (GRCm39) missense probably damaging 1.00
R4828:Gnai1 UTSW 5 18,496,470 (GRCm39) missense probably damaging 1.00
R4858:Gnai1 UTSW 5 18,496,596 (GRCm39) missense probably benign
R5190:Gnai1 UTSW 5 18,496,596 (GRCm39) missense probably benign
R5591:Gnai1 UTSW 5 18,476,844 (GRCm39) missense probably benign 0.03
R6636:Gnai1 UTSW 5 18,478,472 (GRCm39) missense probably damaging 1.00
R7326:Gnai1 UTSW 5 18,494,549 (GRCm39) missense
R8184:Gnai1 UTSW 5 18,496,504 (GRCm39) missense
R9393:Gnai1 UTSW 5 18,565,055 (GRCm39) missense
Z1177:Gnai1 UTSW 5 18,513,550 (GRCm39) critical splice donor site probably null
Posted On 2013-04-17