Incidental Mutation 'IGL02645:Pex3'
ID 301925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex3
Ensembl Gene ENSMUSG00000019809
Gene Name peroxisomal biogenesis factor 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02645
Quality Score
Status
Chromosome 10
Chromosomal Location 13523842-13553142 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 13546429 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 42 (E42D)
Ref Sequence ENSEMBL: ENSMUSP00000128512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]
AlphaFold Q9QXY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000019945
AA Change: E42D

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809
AA Change: E42D

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: ENSMUST00000145337
Predicted Effect possibly damaging
Transcript: ENSMUST00000170376
AA Change: E42D

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128512
Gene: ENSMUSG00000019809
AA Change: E42D

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ebf4 A G 2: 130,361,841 K471E probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Ndrg2 T A 14: 51,906,522 M300L possibly damaging Het
Nhs A G X: 162,159,058 S111P probably benign Het
Nme8 T A 13: 19,660,585 L111F probably damaging Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rsl1 T A 13: 67,182,209 F240L probably benign Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Secisbp2 T A 13: 51,682,460 M767K probably damaging Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Pex3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex3 APN 10 13552853 splice site probably null
IGL02367:Pex3 APN 10 13524899 missense probably benign 0.39
IGL02538:Pex3 APN 10 13535600 missense possibly damaging 0.94
IGL03096:Pex3 APN 10 13534663 splice site probably benign
R0076:Pex3 UTSW 10 13535594 missense probably benign 0.08
R0494:Pex3 UTSW 10 13527788 missense probably damaging 1.00
R0945:Pex3 UTSW 10 13542676 missense probably benign 0.43
R4574:Pex3 UTSW 10 13535571 nonsense probably null
R6407:Pex3 UTSW 10 13546368 missense probably damaging 1.00
R7549:Pex3 UTSW 10 13542670 missense probably benign
R7751:Pex3 UTSW 10 13527806 missense possibly damaging 0.67
R8033:Pex3 UTSW 10 13531280 nonsense probably null
R9413:Pex3 UTSW 10 13534710 missense probably damaging 1.00
Posted On 2015-04-16