Gmps - SNV Details



 Gene Information 
Gene Name Gmps
Old Gene Names for Gmps 670032 , Ai047208 , Gm9479 , Aa591640
Gene Description guanine monophosphate synthetase [Source:MGI Symbol;Acc:MGI:2448526]
Uniprot Name
CCDS Name
Gene GO
tRNA processing; GMP biosynthetic process; hydrolase activity; cytoplasm; glutamine metabolic process; GMP synthase (glutamine-hydrolyzing) activity; asparagine biosynthetic process; transferase activity; pyrophosphatase activity; ATP binding; purine nucleotide biosynthetic process; asparagine synthase (glutamine-hydrolyzing) activity
Homolog in other species GMPS
Omim http://omim.org/entry/600358
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027823
Chromosome 3
Coordinate 64,014,352     (Assembly: GRCm38)    
Ref Base A
Codon Change gAt/gGt
Var Base G
Zygosity Heterozygous
Read Depth 48
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 592
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02481
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000029405:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
GMP synthase, C-terminal GMP_synth_C IPR001674 ENSMUSP00000029405 Pfam 493
692 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved