Incidental Mutation 'IGL03096:Pex3'
ID 418585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex3
Ensembl Gene ENSMUSG00000019809
Gene Name peroxisomal biogenesis factor 3
Synonyms 2900010N04Rik, 2810027F19Rik, 1700014F15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03096
Quality Score
Status
Chromosome 10
Chromosomal Location 13399586-13428886 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 13410407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]
AlphaFold Q9QXY9
Predicted Effect probably benign
Transcript: ENSMUST00000019945
SMART Domains Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809

DomainStartEndE-ValueType
Pfam:Peroxin-3 4 99 9.9e-23 PFAM
Pfam:Peroxin-3 94 363 5.7e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105539
SMART Domains Protein: ENSMUSP00000101178
Gene: ENSMUSG00000019809

DomainStartEndE-ValueType
Pfam:Peroxin-3 28 298 6.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105541
SMART Domains Protein: ENSMUSP00000101180
Gene: ENSMUSG00000019809

DomainStartEndE-ValueType
Pfam:Peroxin-3 28 286 2e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145337
Predicted Effect probably benign
Transcript: ENSMUST00000170376
SMART Domains Protein: ENSMUSP00000128512
Gene: ENSMUSG00000019809

DomainStartEndE-ValueType
Pfam:Peroxin-3 2 97 2.4e-35 PFAM
Pfam:Peroxin-3 94 352 7.3e-75 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants exhibit abnormal sebaceous gland, hair follicle bulge, and cornea morphology. An increase in B and T cell numbers and mean platelet volume, and vertebral transformation are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,265,005 (GRCm39) F149S probably damaging Het
Ablim2 A T 5: 36,040,743 (GRCm39) K103* probably null Het
Anapc4 C T 5: 53,023,271 (GRCm39) T704I possibly damaging Het
Ccar1 A T 10: 62,600,112 (GRCm39) D606E probably benign Het
Ces1d T C 8: 93,904,670 (GRCm39) I357V probably benign Het
Col7a1 C A 9: 108,784,856 (GRCm39) P228H unknown Het
Dock4 A G 12: 40,798,000 (GRCm39) I875V probably benign Het
Fndc3a A T 14: 72,836,559 (GRCm39) S67T probably damaging Het
Fras1 A G 5: 96,912,760 (GRCm39) T3355A probably damaging Het
Gtf3a G A 5: 146,890,763 (GRCm39) R248Q probably damaging Het
Hcrtr2 T A 9: 76,161,908 (GRCm39) M161L probably benign Het
Il27ra G T 8: 84,758,161 (GRCm39) L530M probably damaging Het
Kcnj15 A G 16: 95,097,293 (GRCm39) E305G probably damaging Het
Map3k6 A T 4: 132,978,656 (GRCm39) K1086* probably null Het
Neb T C 2: 52,139,484 (GRCm39) I3044V possibly damaging Het
Ntng1 A T 3: 110,042,665 (GRCm39) S54T probably benign Het
Or6c208 T C 10: 129,224,318 (GRCm39) V272A probably damaging Het
Pah T C 10: 87,374,104 (GRCm39) probably null Het
Plcg1 T C 2: 160,599,126 (GRCm39) probably benign Het
Pramel27 A G 4: 143,577,485 (GRCm39) D89G probably benign Het
Prl7c1 A T 13: 27,957,689 (GRCm39) D250E probably damaging Het
Prrc2c C T 1: 162,529,928 (GRCm39) G144S unknown Het
Rad51c A G 11: 87,279,472 (GRCm39) L304P probably damaging Het
Rnf20 A C 4: 49,638,615 (GRCm39) probably benign Het
Six3 A G 17: 85,929,365 (GRCm39) N233S possibly damaging Het
Slc2a9 T A 5: 38,508,572 (GRCm39) I476F probably damaging Het
Trps1 A C 15: 50,709,875 (GRCm39) H154Q probably benign Het
Uvssa T C 5: 33,568,268 (GRCm39) V552A probably benign Het
Vmn2r118 T G 17: 55,914,996 (GRCm39) N550T probably damaging Het
Vmn2r16 T A 5: 109,487,751 (GRCm39) I208K probably damaging Het
Other mutations in Pex3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex3 APN 10 13,428,597 (GRCm39) splice site probably null
IGL02367:Pex3 APN 10 13,400,643 (GRCm39) missense probably benign 0.39
IGL02538:Pex3 APN 10 13,411,344 (GRCm39) missense possibly damaging 0.94
IGL02645:Pex3 APN 10 13,422,173 (GRCm39) missense possibly damaging 0.92
R0076:Pex3 UTSW 10 13,411,338 (GRCm39) missense probably benign 0.08
R0494:Pex3 UTSW 10 13,403,532 (GRCm39) missense probably damaging 1.00
R0945:Pex3 UTSW 10 13,418,420 (GRCm39) missense probably benign 0.43
R4574:Pex3 UTSW 10 13,411,315 (GRCm39) nonsense probably null
R6407:Pex3 UTSW 10 13,422,112 (GRCm39) missense probably damaging 1.00
R7549:Pex3 UTSW 10 13,418,414 (GRCm39) missense probably benign
R7751:Pex3 UTSW 10 13,403,550 (GRCm39) missense possibly damaging 0.67
R8033:Pex3 UTSW 10 13,407,024 (GRCm39) nonsense probably null
R9413:Pex3 UTSW 10 13,410,454 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02