Pex16 - SNV Details



 Human Rare Diseases 
Zellweger syndrome
Infantile Refsum disease
Neonatal adrenoleukodystrophy

 Gene Information 
Gene Name Pex16
Gene Description peroxisomal biogenesis factor 16 [Source:MGI Symbol;Acc:MGI:1338829]
Uniprot Name
CCDS Name
Gene GO
membrane; peroxisome organization; protein import into peroxisome matrix; protein to membrane docking; protein C-terminus binding; endoplasmic reticulum membrane; endoplasmic reticulum; peroxisomal membrane; protein binding; protein targeting to peroxisome; peroxisome; integral component of peroxisomal membrane; peroxisome membrane biogenesis; protein localization to endoplasmic reticulum; protein import into peroxisome membrane; ER-dependent peroxisome organization
Homolog in other species PEX16
Omim http://omim.org/entry/603360
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027222
Chromosome 2
Coordinate 92,377,497     (Assembly: GRCm38)    
Ref Base T
Codon Change aTg/aAg
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.55
A:V0.46
Amino Acid Position 98
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL03350
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.68
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000028650:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Peroxisome membrane protein, Pex16 Pex16 IPR013919 ENSMUSP00000028650 Pfam 10
330 Description available Search pathways

 Availability Details 
Availability Cryopreserved