Incidental Mutation 'R3806:Gem'
ID 274582
Institutional Source Beutler Lab
Gene Symbol Gem
Ensembl Gene ENSMUSG00000028214
Gene Name GTP binding protein overexpressed in skeletal muscle
Synonyms
MMRRC Submission 040763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R3806 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 11704457-11714752 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 11705965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 18 (Q18*)
Ref Sequence ENSEMBL: ENSMUSP00000103939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029868] [ENSMUST00000108304]
AlphaFold P55041
Predicted Effect probably null
Transcript: ENSMUST00000029868
AA Change: Q18*
SMART Domains Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: Q18*

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 null
Transcript: ENSMUST00000108304
AA Change: Q18*
SMART Domains Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: Q18*

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap9 A G 5: 4,004,410 (GRCm39) N108S probably benign Het
Ankmy1 A G 1: 92,811,480 (GRCm39) I636T possibly damaging Het
Bbs9 T A 9: 22,798,926 (GRCm39) D851E probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc175 T C 12: 72,227,598 (GRCm39) T62A possibly damaging Het
Cfhr4 T A 1: 139,680,773 (GRCm39) K248N probably damaging Het
Clcnka T C 4: 141,114,601 (GRCm39) E615G probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cpxm2 C T 7: 131,681,820 (GRCm39) M236I probably benign Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Fam131a G A 16: 20,514,608 (GRCm39) V70M probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbxl15 G C 19: 46,317,891 (GRCm39) R191P possibly damaging Het
Fcrlb T C 1: 170,735,183 (GRCm39) T315A probably benign Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Hemk1 T A 9: 107,214,229 (GRCm39) I68F probably damaging Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Ighv5-17 C A 12: 113,822,918 (GRCm39) A68S probably benign Het
Ip6k3 T C 17: 27,363,974 (GRCm39) H358R probably damaging Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Kmt2a C T 9: 44,731,653 (GRCm39) probably benign Het
Krt16 G T 11: 100,139,566 (GRCm39) R51S unknown Het
Lamtor1 G A 7: 101,560,552 (GRCm39) V156I probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Maco1 C T 4: 134,557,891 (GRCm39) M207I probably benign Het
Man1c1 A T 4: 134,430,662 (GRCm39) L40Q probably damaging Het
Mgat4c A G 10: 102,224,221 (GRCm39) N145S probably benign Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Muc5ac T C 7: 141,367,471 (GRCm39) I2964T possibly damaging Het
Naip2 T A 13: 100,289,142 (GRCm39) Q1196L possibly damaging Het
Nbas G A 12: 13,532,505 (GRCm39) G1738S probably damaging Het
Nlrp5 A G 7: 23,104,271 (GRCm39) E44G probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or5d18 A G 2: 87,864,911 (GRCm39) S191P possibly damaging Het
Otof T A 5: 30,543,843 (GRCm39) probably null Het
Pcdha2 G A 18: 37,072,582 (GRCm39) R71H probably benign Het
Pcdha2 G T 18: 37,074,744 (GRCm39) E792* probably null Het
Pcnx1 A G 12: 81,996,911 (GRCm39) T936A possibly damaging Het
Pofut2 T C 10: 77,096,640 (GRCm39) Y122H probably damaging Het
Psg16 A G 7: 16,824,609 (GRCm39) E131G probably benign Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Rab6a A G 7: 100,257,431 (GRCm39) M1V probably null Het
Ripk3 T C 14: 56,023,725 (GRCm39) R29G probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Ruvbl2 A G 7: 45,071,614 (GRCm39) V423A possibly damaging Het
Rxylt1 A T 10: 121,917,514 (GRCm39) V333E possibly damaging Het
Scgb2b18 T G 7: 32,872,563 (GRCm39) M81L probably benign Het
Slc24a2 A T 4: 87,146,021 (GRCm39) L11H possibly damaging Het
Slc4a1 T C 11: 102,248,019 (GRCm39) E325G probably benign Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Them6 A G 15: 74,593,367 (GRCm39) D75G probably damaging Het
Tnrc18 G A 5: 142,773,029 (GRCm39) A417V unknown Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zbtb22 C T 17: 34,135,920 (GRCm39) probably benign Het
Zfp235 A G 7: 23,840,046 (GRCm39) D225G probably benign Het
Other mutations in Gem
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gem APN 4 11,705,980 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCTTTCTAGGCTTAGGGACAG -3'
(R):5'- TCCCCTATAAGCACTACTCGG -3'

Sequencing Primer
(F):5'- CTTTCTAGGCTTAGGGACAGTTTAG -3'
(R):5'- GTAGTAGGTGTTTCCAGACTCAGAAG -3'
Posted On 2015-04-02