Mrps35 - SNV Details



 Gene Information 
Gene Name Mrps35
Gene Description mitochondrial ribosomal protein S35 [Source:MGI Symbol;Acc:MGI:2385255]
Uniprot Name
CCDS Name
Gene GO
biological_process
mitochondrial small ribosomal subunit
mitochondrion
molecular_function
ribosome
Homolog in other species MRPS35
Omim http://omim.org/entry/611995
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
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 ENSMUSG00000040112
Chromosome 6
Coordinate 147,055,921     (Assembly: GRCm38)    
Ref Base T
Codon Change aTt/aAt
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:0.53
A:0.47
Amino Acid Position 148
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL00912
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 13 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000048348:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ribosomal protein S24/S35, mitochondrial, conserved domain Ribosomal_S24/S35_mit IPR019349 ENSMUSP00000048348 Pfam 143
253 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved