Incidental Mutation 'R1565:Gem'
ID 175182
Institutional Source Beutler Lab
Gene Symbol Gem
Ensembl Gene ENSMUSG00000028214
Gene Name GTP binding protein (gene overexpressed in skeletal muscle)
Synonyms
MMRRC Submission 039604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R1565 (G1)
Quality Score 184
Status Validated
Chromosome 4
Chromosomal Location 11704457-11714752 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11713709 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 282 (F282L)
Ref Sequence ENSEMBL: ENSMUSP00000103939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029868] [ENSMUST00000108304]
AlphaFold P55041
Predicted Effect possibly damaging
Transcript: ENSMUST00000029868
AA Change: F282L

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: F282L

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 possibly damaging
Transcript: ENSMUST00000108304
AA Change: F282L

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: F282L

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
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,501 (GRCm38) G270S probably benign Het
Abtb1 T C 6: 88,836,554 (GRCm38) T401A probably benign Het
Adamts14 A T 10: 61,270,897 (GRCm38) M148K probably damaging Het
Adcy5 A G 16: 35,268,957 (GRCm38) E508G probably damaging Het
Ankfy1 T A 11: 72,757,318 (GRCm38) L875H probably damaging Het
Cacng3 A T 7: 122,768,401 (GRCm38) D168V probably damaging Het
Clpb G A 7: 101,785,461 (GRCm38) R488Q probably benign Het
Cpxm2 A T 7: 132,062,145 (GRCm38) Y350N probably damaging Het
D130040H23Rik T A 8: 69,303,160 (GRCm38) *406R probably null Het
Dnah10 T A 5: 124,829,614 (GRCm38) D4236E probably damaging Het
Dpf3 T A 12: 83,370,617 (GRCm38) Y27F probably damaging Het
Esp4 T C 17: 40,602,595 (GRCm38) *118Q probably null Het
Fam222b T C 11: 78,154,662 (GRCm38) S222P possibly damaging Het
Flnc T C 6: 29,455,171 (GRCm38) V1933A probably damaging Het
Gli2 T C 1: 118,841,930 (GRCm38) T631A possibly damaging Het
Gm13088 G A 4: 143,655,617 (GRCm38) Q170* probably null Het
Gpld1 T A 13: 24,956,068 (GRCm38) V116E probably damaging Het
Gpr176 A G 2: 118,280,214 (GRCm38) M188T probably benign Het
Grk5 T C 19: 61,089,972 (GRCm38) V489A probably damaging Het
H2-Ke6 C T 17: 34,027,495 (GRCm38) V105I possibly damaging Het
Hpdl T C 4: 116,820,883 (GRCm38) N127S probably damaging Het
Id4 G T 13: 48,262,294 (GRCm38) V151L possibly damaging Het
Kcnh8 G T 17: 52,956,881 (GRCm38) G802V probably benign Het
Lamc1 C A 1: 153,242,743 (GRCm38) S894I probably benign Het
Larp1b A G 3: 40,972,384 (GRCm38) N184S probably damaging Het
Lhx1 A T 11: 84,519,821 (GRCm38) S226T probably benign Het
Lmo7 A T 14: 101,887,521 (GRCm38) Q472L probably damaging Het
Mog G C 17: 37,017,582 (GRCm38) N152K possibly damaging Het
Mttp A G 3: 138,116,405 (GRCm38) probably null Het
Mycbp2 A G 14: 103,252,509 (GRCm38) V953A possibly damaging Het
Myo3a A T 2: 22,340,280 (GRCm38) Y509F probably damaging Het
Myo9b A G 8: 71,315,192 (GRCm38) N303S possibly damaging Het
Nek3 T C 8: 22,132,201 (GRCm38) probably null Het
Nlrc4 A T 17: 74,441,931 (GRCm38) D771E probably benign Het
Nup160 A T 2: 90,722,061 (GRCm38) N1127I possibly damaging Het
Oas1h A T 5: 120,862,600 (GRCm38) N91I probably damaging Het
Olfr1225 A T 2: 89,170,627 (GRCm38) V195D probably benign Het
Olfr1226 G T 2: 89,193,883 (GRCm38) S50R probably damaging Het
Olfr1342 T A 4: 118,690,192 (GRCm38) N87Y probably damaging Het
Parp4 T C 14: 56,589,872 (GRCm38) probably benign Het
Pi4ka G A 16: 17,281,900 (GRCm38) C96Y probably null Het
Pira2 A T 7: 3,844,549 (GRCm38) F47Y probably damaging Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Plekhg1 C T 10: 3,940,526 (GRCm38) T394I probably damaging Het
Psmd1 T C 1: 86,091,997 (GRCm38) probably benign Het
Rab3ip A T 10: 116,939,223 (GRCm38) C77S probably benign Het
Reln A T 5: 21,925,213 (GRCm38) M2700K probably benign Het
Rfx1 A G 8: 84,073,946 (GRCm38) T59A probably benign Het
Ric8b G T 10: 84,980,099 (GRCm38) V405L probably benign Het
Rufy3 G T 5: 88,640,632 (GRCm38) A479S probably damaging Het
Sardh A T 2: 27,242,719 (GRCm38) Y166N probably damaging Het
Slamf6 T G 1: 171,934,408 (GRCm38) V132G possibly damaging Het
Slc12a3 T G 8: 94,345,877 (GRCm38) H674Q possibly damaging Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Srsf9 A G 5: 115,327,370 (GRCm38) N21S possibly damaging Het
Stkld1 A T 2: 26,950,090 (GRCm38) T391S probably benign Het
Sumf2 C A 5: 129,859,914 (GRCm38) N230K probably damaging Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Thsd7b T A 1: 129,596,041 (GRCm38) S194T possibly damaging Het
Tmem27 A G X: 164,118,234 (GRCm38) D184G possibly damaging Het
Tnn T A 1: 160,097,265 (GRCm38) Y1173F probably damaging Het
Top2a A G 11: 99,001,054 (GRCm38) F1122L probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim39 G A 17: 36,268,854 (GRCm38) R70W probably damaging Het
Ttn G A 2: 76,794,261 (GRCm38) T15289I probably damaging Het
Ugt2b38 A T 5: 87,411,914 (GRCm38) V373E probably damaging Het
Usp54 A G 14: 20,607,159 (GRCm38) S24P probably damaging Het
Vmn2r27 C T 6: 124,231,634 (GRCm38) G51S probably benign Het
Xylt2 C T 11: 94,667,594 (GRCm38) A579T probably benign Het
Zbtb21 A G 16: 97,952,427 (GRCm38) S247P probably benign Het
Zc3h7b C T 15: 81,777,088 (GRCm38) P376L probably benign Het
Zfp251 C T 15: 76,853,039 (GRCm38) R613K possibly damaging Het
Zfp251 T A 15: 76,853,038 (GRCm38) R613S probably damaging Het
Zfp91 T C 19: 12,779,075 (GRCm38) D135G probably benign Het
Other mutations in Gem
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gem APN 4 11,705,980 (GRCm38) missense probably benign
IGL02189:Gem APN 4 11,706,121 (GRCm38) missense possibly damaging 0.94
IGL02571:Gem APN 4 11,713,628 (GRCm38) missense probably benign 0.28
R3806:Gem UTSW 4 11,705,965 (GRCm38) nonsense probably null
R3893:Gem UTSW 4 11,705,889 (GRCm38) intron probably benign
R4353:Gem UTSW 4 11,705,939 (GRCm38) missense probably damaging 1.00
R4724:Gem UTSW 4 11,706,074 (GRCm38) missense probably damaging 0.96
R7676:Gem UTSW 4 11,711,170 (GRCm38) missense possibly damaging 0.83
R8779:Gem UTSW 4 11,711,166 (GRCm38) missense possibly damaging 0.94
R9708:Gem UTSW 4 11,711,154 (GRCm38) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TCTCTAGAAGGGAGAGCTTGTGCTG -3'
(R):5'- ATCTGCCATAGGGGAAGTTGCGTC -3'

Sequencing Primer
(F):5'- GTTCGACTGCAAATTCATCGAGAC -3'
(R):5'- GCGTCTAACAATGCTTATGTATCC -3'
Posted On 2014-04-24