Gemin5 - SNV Details



 Gene Information 
Gene Name Gemin5
Old Gene Names for Gemin5 Aa407055 , Aa407208 , Ai451603 , Bb194447
Gene Description gem (nuclear organelle) associated protein 5 [Source:MGI Symbol;Acc:MGI:2449311]
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; cytoplasm; RNA splicing; nuclear body; protein binding; nucleus; snRNA binding; spliceosomal complex; mRNA processing
Homolog in other species GEMIN5
Omim http://omim.org/entry/607005
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037275
Chromosome 11
Coordinate 58,134,803     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:R0.55
C:V0.46
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02549
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved