Incidental Mutation 'IGL01153:Pex3'
ID 278222
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 # IGL01153
Quality Score
Status
Chromosome 10
Chromosomal Location 13399586-13428886 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 13428597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019944] [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]
AlphaFold Q9QXY9
Predicted Effect probably benign
Transcript: ENSMUST00000019944
SMART Domains Protein: ENSMUSP00000019944
Gene: ENSMUSG00000019808

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 126 5.3e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000019945
AA Change: C16S

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809
AA Change: C16S

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 null
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: ENSMUST00000145337
Predicted Effect probably benign
Transcript: ENSMUST00000170376
AA Change: C16S

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128512
Gene: ENSMUSG00000019809
AA Change: C16S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,567,247 (GRCm39) I5309V probably benign Het
Amy1 A G 3: 113,349,724 (GRCm39) V482A possibly damaging Het
Ankrd22 A T 19: 34,106,229 (GRCm39) V81E probably damaging Het
Ccr5 C A 9: 123,924,649 (GRCm39) T84K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chchd3 A T 6: 32,985,502 (GRCm39) probably benign Het
Cpt1c C T 7: 44,616,092 (GRCm39) E307K probably damaging Het
Cyth2 T C 7: 45,457,813 (GRCm39) Y120C probably damaging Het
Dnajb11 T A 16: 22,681,430 (GRCm39) D69E probably benign Het
Ece2 T A 16: 20,451,544 (GRCm39) M215K possibly damaging Het
Enox2 C A X: 48,151,015 (GRCm39) probably null Het
Fam120c T C X: 150,182,801 (GRCm39) probably null Het
Fam149b A G 14: 20,427,949 (GRCm39) T319A possibly damaging Het
Fndc1 A T 17: 7,998,874 (GRCm39) probably null Het
Gcsh T A 8: 117,710,549 (GRCm39) D138V probably benign Het
Herc3 T A 6: 58,837,321 (GRCm39) H331Q probably benign Het
Iars1 A G 13: 49,865,281 (GRCm39) N586D probably damaging Het
Idh3g A G X: 72,823,668 (GRCm39) V280A probably damaging Het
Kctd18 A G 1: 58,004,550 (GRCm39) S115P probably damaging Het
Lims2 A G 18: 32,090,370 (GRCm39) probably null Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Mael T C 1: 166,029,919 (GRCm39) K334E possibly damaging Het
Me3 A C 7: 89,498,844 (GRCm39) T475P probably damaging Het
Mrpl18 A G 17: 13,134,693 (GRCm39) L24P possibly damaging Het
Nol4 C A 18: 22,902,850 (GRCm39) R460L probably damaging Het
Numa1 A T 7: 101,643,951 (GRCm39) E181V probably damaging Het
Or6c2 T A 10: 129,362,864 (GRCm39) I256N probably damaging Het
Pex2 A T 3: 5,626,424 (GRCm39) H128Q probably benign Het
Psmb8 A G 17: 34,420,215 (GRCm39) Y269C possibly damaging Het
Sh2d3c A G 2: 32,615,096 (GRCm39) K62R probably benign Het
Strn4 G A 7: 16,571,846 (GRCm39) G613D probably damaging Het
Taok2 A G 7: 126,470,204 (GRCm39) W875R probably damaging Het
Tbc1d4 T C 14: 101,845,451 (GRCm39) D149G possibly damaging Het
Zfp473 A G 7: 44,383,992 (GRCm39) S113P probably damaging Het
Zfp768 A G 7: 126,943,703 (GRCm39) Y145H possibly damaging Het
Zgrf1 G A 3: 127,396,055 (GRCm39) G534R probably damaging Het
Other mutations in Pex3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03096:Pex3 APN 10 13,410,407 (GRCm39) splice site probably benign
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 2015-04-16