Samm50 - SNV Details



 Gene Information 
Gene Name Samm50
Old Gene Names for Samm50 1110030l07rik
Gene Description sorting and assembly machinery component 50 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915903]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; mitochondrial sorting and assembly machinery complex; mitochondrial outer membrane; integral to membrane; protein import into mitochondrial outer membrane; protein binding; mitochondrial inner membrane; outer membrane
Homolog in other species SAMM50
Omim http://omim.org/entry/612058
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)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022437
Chromosome 15
Coordinate 84,195,838     (Assembly: GRCm38)    
Ref Base T
Codon Change aTc/aAc
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 39
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01586
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability