Incidental Mutation 'R4353:Gem'
ID 327398
Institutional Source Beutler Lab
Gene Symbol Gem
Ensembl Gene ENSMUSG00000028214
Gene Name GTP binding protein overexpressed in skeletal muscle
Synonyms
MMRRC Submission 040866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R4353 (G1)
Quality Score 219
Status Not validated
Chromosome 4
Chromosomal Location 11704457-11714752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11705939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 9 (R9H)
Ref Sequence ENSEMBL: ENSMUSP00000103939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029868] [ENSMUST00000108304]
AlphaFold P55041
Predicted Effect probably damaging
Transcript: ENSMUST00000029868
AA Change: R9H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: R9H

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 damaging
Transcript: ENSMUST00000108304
AA Change: R9H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: R9H

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpk2 C T 18: 65,424,523 (GRCm39) R1888H possibly damaging Het
Arhgap33 C A 7: 30,223,561 (GRCm39) V823L possibly damaging Het
Atp2b2 T C 6: 113,742,745 (GRCm39) I736V probably benign Het
Atp8a1 T C 5: 67,926,451 (GRCm39) T260A probably damaging Het
B4galnt3 T C 6: 120,192,437 (GRCm39) E433G possibly damaging Het
Bzw2 A T 12: 36,173,978 (GRCm39) F99I probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Coq6 G A 12: 84,414,923 (GRCm39) G110D probably damaging Het
Cpb1 T C 3: 20,316,708 (GRCm39) T281A probably benign Het
Cttnbp2 T C 6: 18,514,703 (GRCm39) D11G probably benign Het
Cyp2c37 A G 19: 39,988,989 (GRCm39) Y316C possibly damaging Het
Dcdc2a T A 13: 25,240,474 (GRCm39) I74N probably damaging Het
Dhx9 A G 1: 153,347,535 (GRCm39) L391P probably damaging Het
Dsc2 G T 18: 20,183,125 (GRCm39) L98I probably damaging Het
Dthd1 T A 5: 63,000,210 (GRCm39) S511T probably benign Het
Dusp2 A G 2: 127,179,256 (GRCm39) T204A probably damaging Het
Elovl5 T C 9: 77,868,199 (GRCm39) V37A probably benign Het
Etv1 A G 12: 38,907,105 (GRCm39) E369G probably damaging Het
Heg1 A G 16: 33,530,847 (GRCm39) T108A probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Iqgap2 C T 13: 95,807,904 (GRCm39) V788M probably damaging Het
Kyat3 T C 3: 142,437,054 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Meis2 A G 2: 115,890,044 (GRCm39) M146T probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Nt5el T C 13: 105,255,253 (GRCm39) Y445H probably benign Het
Nup214 T C 2: 31,867,929 (GRCm39) probably null Het
Or2h1b T A 17: 37,462,228 (GRCm39) I58F probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Poln C T 5: 34,286,796 (GRCm39) C124Y probably benign Het
Ppp2r2a T A 14: 67,266,386 (GRCm39) I92L probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rnf130 T C 11: 49,978,267 (GRCm39) V276A possibly damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Scn7a T A 2: 66,506,780 (GRCm39) M1370L probably benign Het
Sema4b C A 7: 79,865,399 (GRCm39) L125I probably damaging Het
Slc12a7 C T 13: 73,938,853 (GRCm39) T210I possibly damaging Het
Sox8 A C 17: 25,786,309 (GRCm39) *465G probably null Het
Spg11 G T 2: 121,943,675 (GRCm39) T159K possibly damaging Het
Stk36 A G 1: 74,671,966 (GRCm39) R889G possibly damaging Het
Tmbim7 A G 5: 3,711,796 (GRCm39) S14G probably benign Het
Usp16 A G 16: 87,267,242 (GRCm39) N211D probably damaging Het
Vmn1r6 C T 6: 56,979,677 (GRCm39) A113V possibly damaging Het
Zc3h14 A G 12: 98,730,219 (GRCm39) N92D possibly damaging Het
Zfp638 T C 6: 83,961,041 (GRCm39) S1206P probably damaging 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
R3806:Gem UTSW 4 11,705,965 (GRCm39) nonsense probably null
R3893:Gem UTSW 4 11,705,889 (GRCm39) intron probably benign
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'- TGCTTTCTAGGCTTAGGGACAG -3'
(R):5'- CTCCCCTATAAGCACTACTCGG -3'

Sequencing Primer
(F):5'- CTTTCTAGGCTTAGGGACAGTTTAG -3'
(R):5'- TGTTTCCAGACTCAGAAGAGATGACC -3'
Posted On 2015-07-07