Incidental Mutation 'IGL02656:Pex19'
ID302346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex19
Ensembl Gene ENSMUSG00000003464
Gene Nameperoxisomal biogenesis factor 19
SynonymsPxf, peroxisome biogenesis factor 19
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.783) question?
Stock #IGL02656
Quality Score
Status
Chromosome1
Chromosomal Location172126755-172136493 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 172130685 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 77 (A77E)
Ref Sequence ENSEMBL: ENSMUSP00000106883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075895] [ENSMUST00000111252]
Predicted Effect probably benign
Transcript: ENSMUST00000075895
AA Change: A169E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000075289
Gene: ENSMUSG00000003464
AA Change: A169E

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Pex19 74 299 1.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111252
AA Change: A77E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106883
Gene: ENSMUSG00000003464
AA Change: A77E

DomainStartEndE-ValueType
Pfam:Pex19 9 207 5.7e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147799
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Pex19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02123:Pex19 APN 1 172134286 missense probably damaging 1.00
R5457:Pex19 UTSW 1 172130678 missense probably damaging 1.00
R5590:Pex19 UTSW 1 172133212 missense probably benign 0.00
R5809:Pex19 UTSW 1 172130739 missense probably damaging 0.98
R6148:Pex19 UTSW 1 172134039 missense probably damaging 0.96
R7088:Pex19 UTSW 1 172128583 frame shift probably null
R7705:Pex19 UTSW 1 172128583 frame shift probably null
R7854:Pex19 UTSW 1 172126850 critical splice donor site probably null
Posted On2015-04-16