Incidental Mutation 'IGL02571:Gem'
ID299009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gem
Ensembl Gene ENSMUSG00000028214
Gene NameGTP binding protein (gene overexpressed in skeletal muscle)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL02571
Quality Score
Status
Chromosome4
Chromosomal Location11704457-11714752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 11713628 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 255 (Q255K)
Ref Sequence ENSEMBL: ENSMUSP00000103939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029868] [ENSMUST00000108304]
Predicted Effect probably benign
Transcript: ENSMUST00000029868
AA Change: Q255K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: Q255K

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: Q255K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: Q255K

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 T C 14: 60,012,458 probably benign Het
Cacna2d2 G A 9: 107,525,646 E885K possibly damaging Het
Cyp4f17 A G 17: 32,524,904 E352G probably benign Het
Dip2b T C 15: 100,157,885 W373R possibly damaging Het
Fam71b G T 11: 46,405,245 R148L probably damaging Het
Herc1 T C 9: 66,434,605 probably benign Het
Herc2 A T 7: 56,153,386 N2161I probably damaging Het
Ift172 A G 5: 31,257,891 F1325L probably damaging Het
Irgc1 T C 7: 24,432,591 K267R probably damaging Het
Kif1a A G 1: 93,020,456 probably null Het
Lifr G T 15: 7,190,111 probably benign Het
Mrpl12 A G 11: 120,485,432 probably null Het
Mrps18c A G 5: 100,801,975 D74G probably damaging Het
Mtus1 C T 8: 41,083,482 G399D possibly damaging Het
Nf1 T C 11: 79,428,627 I536T probably damaging Het
Olfr1441 C A 19: 12,422,886 S192R possibly damaging Het
Pcdh9 A G 14: 93,560,587 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rubcnl A T 14: 75,032,136 Q78L possibly damaging Het
Sis C A 3: 72,956,304 probably benign Het
Tbc1d2 T C 4: 46,628,370 M320V probably benign Het
Vmn1r178 C T 7: 23,894,235 T236I probably damaging Het
Xpc T C 6: 91,504,071 D273G probably benign Het
Zfhx4 A C 3: 5,329,523 N1033T probably damaging Het
Zfp646 A G 7: 127,879,412 T254A probably damaging Het
Other mutations in Gem
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gem APN 4 11705980 missense probably benign
IGL02189:Gem APN 4 11706121 missense possibly damaging 0.94
R1565:Gem UTSW 4 11713709 missense possibly damaging 0.62
R3806:Gem UTSW 4 11705965 nonsense probably null
R3893:Gem UTSW 4 11705889 intron probably benign
R4353:Gem UTSW 4 11705939 missense probably damaging 1.00
R4724:Gem UTSW 4 11706074 missense probably damaging 0.96
R7676:Gem UTSW 4 11711170 missense possibly damaging 0.83
Posted On2015-04-16