Mrps27 - SNV Details



 Gene Information 
Gene Name Mrps27
Old Gene Names for Mrps27 2610028h14rik
Gene Description mitochondrial ribosomal protein S27 [Source:MGI Symbol;Acc:MGI:1919064]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; protein binding; ribosome; biological_process; molecular_function
Homolog in other species MRPS27
Omim http://omim.org/entry/611989
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.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 ENSMUSG00000041632
Chromosome 13
Coordinate 99,409,816     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.43
G:V0.56
Amino Acid Position 200
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01666
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000062326:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ribosomal protein S27, mitochondrial Ribosomal_S27_mit IPR019266 ENSMUSP00000062326 Pfam 1
413 Description available Search pathways

 Availability Details 
Availability Cryopreserved