Incidental Mutation 'IGL01717:Gnai1'
ID104988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnai1
Ensembl Gene ENSMUSG00000057614
Gene Nameguanine nucleotide binding protein (G protein), alpha inhibiting 1
SynonymsGialpha1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01717
Quality Score
Status
Chromosome5
Chromosomal Location18265135-18360355 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 18291461 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074694]
Predicted Effect probably null
Transcript: ENSMUST00000074694
SMART Domains Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Gnai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Gnai1 APN 5 18291619 missense probably benign 0.00
IGL00981:Gnai1 APN 5 18267047 missense probably benign 0.05
IGL01958:Gnai1 APN 5 18273570 missense probably damaging 1.00
R0238:Gnai1 UTSW 5 18273550 missense probably damaging 1.00
R0238:Gnai1 UTSW 5 18273550 missense probably damaging 1.00
R4828:Gnai1 UTSW 5 18291472 missense probably damaging 1.00
R4858:Gnai1 UTSW 5 18291598 missense probably benign
R5190:Gnai1 UTSW 5 18291598 missense probably benign
R5591:Gnai1 UTSW 5 18271846 missense probably benign 0.03
R6636:Gnai1 UTSW 5 18273474 missense probably damaging 1.00
R7326:Gnai1 UTSW 5 18289551 missense
R8184:Gnai1 UTSW 5 18291506 missense
Z1177:Gnai1 UTSW 5 18308552 critical splice donor site probably null
Posted On2014-01-21