Incidental Mutation 'IGL01863:Gem'
ID 178430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gem
Ensembl Gene ENSMUSG00000028214
Gene Name GTP binding protein overexpressed in skeletal muscle
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # IGL01863
Quality Score
Status
Chromosome 4
Chromosomal Location 11704457-11714752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11705980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 23 (I23V)
Ref Sequence ENSEMBL: ENSMUSP00000103939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029868] [ENSMUST00000108304]
AlphaFold P55041
Predicted Effect probably benign
Transcript: ENSMUST00000029868
AA Change: I23V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: I23V

DomainStartEndE-ValueType
low complexity region 56 70 N/A INTRINSIC
Pfam:Miro 76 193 4.9e-21 PFAM
Pfam:Ras 76 240 1.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108304
AA Change: I23V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: I23V

DomainStartEndE-ValueType
low complexity region 56 70 N/A INTRINSIC
Pfam:Roc 76 194 2.6e-11 PFAM
Pfam:Ras 76 240 1.3e-32 PFAM
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 belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased insulin secretion and abnormal calcium handling in pancreatic beta-cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,215,907 (GRCm39) I326F possibly damaging Het
Aimp1 T C 3: 132,377,853 (GRCm39) T171A probably benign Het
Ash1l T A 3: 88,892,813 (GRCm39) L1564* probably null Het
Atp1a1 G T 3: 101,499,205 (GRCm39) Y131* probably null Het
Celsr2 T C 3: 108,301,338 (GRCm39) E2686G probably benign Het
Cyp4f18 A G 8: 72,743,770 (GRCm39) V395A possibly damaging Het
Dnaaf11 A T 15: 66,268,823 (GRCm39) probably benign Het
Ephb2 T C 4: 136,387,088 (GRCm39) Q713R probably benign Het
Esf1 A T 2: 139,962,599 (GRCm39) M824K probably benign Het
Fat4 T C 3: 39,024,768 (GRCm39) probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Il6st A G 13: 112,640,744 (GRCm39) E779G possibly damaging Het
Lama3 T A 18: 12,552,993 (GRCm39) probably benign Het
Lipi A C 16: 75,347,114 (GRCm39) I435R probably damaging Het
Odad2 T C 18: 7,222,617 (GRCm39) T551A probably damaging Het
Omg C T 11: 79,393,050 (GRCm39) M269I probably benign Het
Optn A T 2: 5,026,298 (GRCm39) probably benign Het
Or5ae2 T C 7: 84,505,619 (GRCm39) L14P probably damaging Het
Pex1 A G 5: 3,656,066 (GRCm39) T298A probably benign Het
Rab27b T A 18: 70,122,625 (GRCm39) R111S probably damaging Het
Rhbdf1 T G 11: 32,163,484 (GRCm39) E329D probably benign Het
Slc2a13 T C 15: 91,400,695 (GRCm39) I176V probably benign Het
Slc30a1 T A 1: 191,641,196 (GRCm39) C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 (GRCm38) C509S probably damaging Het
Slfn9 T C 11: 82,872,151 (GRCm39) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm39) I782T possibly damaging Het
Tent5c C T 3: 100,379,980 (GRCm39) D259N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b T C 7: 79,924,059 (GRCm39) probably null Het
Wrap73 A G 4: 154,229,790 (GRCm39) I54V probably benign Het
Other mutations in Gem
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:Gem APN 4 11,706,121 (GRCm39) missense possibly damaging 0.94
IGL02571:Gem APN 4 11,713,628 (GRCm39) missense probably benign 0.28
R1565:Gem UTSW 4 11,713,709 (GRCm39) missense possibly damaging 0.62
R3806:Gem UTSW 4 11,705,965 (GRCm39) nonsense probably null
R3893:Gem UTSW 4 11,705,889 (GRCm39) intron probably benign
R4353:Gem UTSW 4 11,705,939 (GRCm39) missense probably damaging 1.00
R4724:Gem UTSW 4 11,706,074 (GRCm39) missense probably damaging 0.96
R7676:Gem UTSW 4 11,711,170 (GRCm39) missense possibly damaging 0.83
R8779:Gem UTSW 4 11,711,166 (GRCm39) missense possibly damaging 0.94
R9708:Gem UTSW 4 11,711,154 (GRCm39) missense possibly damaging 0.46
Posted On 2014-05-07