Incidental Mutation 'R8184:Gnai1'
ID 634765
Institutional Source Beutler Lab
Gene Symbol Gnai1
Ensembl Gene ENSMUSG00000057614
Gene Name G protein subunit alpha i1
Synonyms Gialpha1
MMRRC Submission 067607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8184 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 18470133-18565353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18496504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 140 (F140L)
Ref Sequence ENSEMBL: ENSMUSP00000074259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074694]
AlphaFold B2RSH2
Predicted Effect
SMART Domains Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614
AA Change: F140L

DomainStartEndE-ValueType
G_alpha 13 353 5.13e-223 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T C 2: 93,686,086 (GRCm39) K577R probably benign Het
Baiap3 A G 17: 25,467,499 (GRCm39) S368P probably benign Het
Brf2 T C 8: 27,614,013 (GRCm39) E391G possibly damaging Het
Casr T A 16: 36,330,108 (GRCm39) M409L probably benign Het
Ccdc83 G T 7: 89,873,286 (GRCm39) Y356* probably null Het
Clec10a A T 11: 70,060,642 (GRCm39) N166Y probably damaging Het
Copg1 T C 6: 87,866,996 (GRCm39) F77S probably damaging Het
Dnah7a T G 1: 53,666,194 (GRCm39) K611T probably benign Het
Dock10 G A 1: 80,530,469 (GRCm39) H1025Y probably damaging Het
Dock6 A T 9: 21,741,596 (GRCm39) S876T possibly damaging Het
Dop1b G T 16: 93,573,881 (GRCm39) R1701L probably benign Het
Dus4l A G 12: 31,690,817 (GRCm39) F278S probably damaging Het
Fbxo43 C T 15: 36,162,485 (GRCm39) V241I possibly damaging Het
Gbx2 A T 1: 89,856,550 (GRCm39) I280N probably damaging Het
Gne T C 4: 44,084,061 (GRCm39) Y13C probably benign Het
Heatr5b A T 17: 79,121,662 (GRCm39) S688T probably benign Het
Hectd2 T A 19: 36,581,754 (GRCm39) D431E possibly damaging Het
Hecw2 A G 1: 54,079,546 (GRCm39) S36P probably benign Het
Hpx A T 7: 105,241,352 (GRCm39) I353N probably damaging Het
Ints8 A T 4: 11,204,534 (GRCm39) V974E probably damaging Het
Jaml T A 9: 45,000,110 (GRCm39) L136Q probably damaging Het
Kazn A G 4: 141,845,441 (GRCm39) V381A probably benign Het
Krt79 T C 15: 101,838,187 (GRCm39) T523A unknown Het
Lrrc8e T G 8: 4,285,140 (GRCm39) L455R probably damaging Het
Mrps11 T C 7: 78,433,125 (GRCm39) S7P possibly damaging Het
Muc21 A G 17: 35,933,722 (GRCm39) S155P unknown Het
Neurl3 A G 1: 36,308,662 (GRCm39) F50S probably damaging Het
Nlgn1 T C 3: 25,490,363 (GRCm39) T455A probably damaging Het
Pbp2 T C 6: 135,287,260 (GRCm39) Y29C probably damaging Het
Pdcd11 T A 19: 47,101,791 (GRCm39) L992* probably null Het
Pla2g6 A G 15: 79,171,322 (GRCm39) I756T probably benign Het
Polm T A 11: 5,781,707 (GRCm39) D263V possibly damaging Het
Pspc1 T C 14: 57,001,700 (GRCm39) T225A probably benign Het
Rtca C A 3: 116,301,473 (GRCm39) A25S probably benign Het
Sirt2 G A 7: 28,487,191 (GRCm39) V318M probably damaging Het
Slc1a2 T A 2: 102,568,197 (GRCm39) I78K probably damaging Het
Slco3a1 A G 7: 74,009,577 (GRCm39) I246T probably benign Het
Smpd5 A G 15: 76,179,926 (GRCm39) E325G probably benign Het
Snw1 T C 12: 87,500,673 (GRCm39) E362G probably benign Het
Tmem63c A T 12: 87,108,328 (GRCm39) M114L possibly damaging Het
Trim24 T C 6: 37,848,242 (GRCm39) L66P probably damaging Het
Trpm3 T C 19: 22,896,060 (GRCm39) F966L possibly damaging Het
Ttn T C 2: 76,609,643 (GRCm39) I17588V probably benign Het
Vmn2r44 A T 7: 8,371,227 (GRCm39) C606* probably null Het
Vmn2r74 A T 7: 85,601,454 (GRCm39) V728E probably benign Het
Zfp503 T C 14: 22,036,019 (GRCm39) D299G possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Gnai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Gnai1 APN 5 18,496,617 (GRCm39) missense probably benign 0.00
IGL00981:Gnai1 APN 5 18,472,045 (GRCm39) missense probably benign 0.05
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
R9393:Gnai1 UTSW 5 18,565,055 (GRCm39) missense
Z1177:Gnai1 UTSW 5 18,513,550 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGCACTCAAATATGGTCACTCAG -3'
(R):5'- AAAGAAAAGTGTGGCGCTTC -3'

Sequencing Primer
(F):5'- GGTCACTCAGAAAGCATGAGTTTCAC -3'
(R):5'- GAAAGTTCCCAATTGTGCTGC -3'
Posted On 2020-07-13