Mrpl23 - SNV Details



 Gene Information 
Gene Name Mrpl23
Old Gene Names for Mrpl23 Rpl23l
Gene Description mitochondrial ribosomal protein L23 [Source:MGI Symbol;Acc:MGI:1196612]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; structural constituent of ribosome; translation; intracellular; ribosome; nucleotide binding
Homolog in other species MRPL23
Omim http://omim.org/entry/600789
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000037772
Chromosome 7
Coordinate 142,536,065     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 79
Allele Frequency
T:R0.38
A:V0.62
Amino Acid Change Disrupted splicing
Splice Position 5
Sample ID IGL02350
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved