Incidental Mutation 'IGL02538:Pex3'
ID297586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex3
Ensembl Gene ENSMUSG00000019809
Gene Nameperoxisomal biogenesis factor 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02538
Quality Score
Status
Chromosome10
Chromosomal Location13523842-13553142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13535600 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 178 (E178G)
Ref Sequence ENSEMBL: ENSMUSP00000128512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019945
AA Change: E178G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809
AA Change: E178G

DomainStartEndE-ValueType
Pfam:Peroxin-3 4 99 9.9e-23 PFAM
Pfam:Peroxin-3 94 363 5.7e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105539
AA Change: E112G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101178
Gene: ENSMUSG00000019809
AA Change: E112G

DomainStartEndE-ValueType
Pfam:Peroxin-3 28 298 6.1e-83 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105541
AA Change: E112G

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101180
Gene: ENSMUSG00000019809
AA Change: E112G

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 possibly damaging
Transcript: ENSMUST00000170376
AA Change: E178G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128512
Gene: ENSMUSG00000019809
AA Change: E178G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,306,605 I171L possibly damaging Het
Amdhd1 C T 10: 93,527,246 V327I probably damaging Het
Ankrd1 T C 19: 36,115,056 H257R probably damaging Het
Ano5 G A 7: 51,583,775 R595H probably damaging Het
Atg2a A G 19: 6,257,628 T1531A probably benign Het
Bsn A G 9: 108,105,236 S1001P unknown Het
Btn1a1 T C 13: 23,459,215 T355A possibly damaging Het
Cd22 G T 7: 30,877,560 N107K probably benign Het
Ceacam10 A G 7: 24,778,483 H141R probably damaging Het
Chil3 T C 3: 106,164,129 D73G probably damaging Het
Cit C T 5: 115,986,989 Q1536* probably null Het
Dmgdh T A 13: 93,708,753 I418K possibly damaging Het
Efcab6 T A 15: 84,054,521 probably benign Het
Eif4g2 T C 7: 111,079,316 I110V probably benign Het
Fam217a T C 13: 34,911,113 Y221C probably damaging Het
Fezf1 T A 6: 23,246,558 K342N probably damaging Het
Git2 A T 5: 114,730,986 probably benign Het
Gm4951 A T 18: 60,245,872 K160* probably null Het
Gm8126 A T 14: 43,259,590 R63W probably benign Het
Ica1l T C 1: 60,010,186 K203E probably benign Het
Inpp5d A G 1: 87,695,366 M393V probably null Het
Kbtbd11 A G 8: 15,028,841 D480G probably damaging Het
Klhl1 T C 14: 96,240,213 N473S probably benign Het
Krt2 A G 15: 101,811,154 S694P unknown Het
Lhfp C T 3: 53,043,311 A2V probably benign Het
Lipk T A 19: 34,046,879 L354Q probably damaging Het
Luzp2 T A 7: 55,211,798 L225* probably null Het
Mknk1 C T 4: 115,860,091 Q58* probably null Het
Mut A T 17: 40,938,619 I162F probably damaging Het
Nol11 T A 11: 107,173,373 M518L probably benign Het
Nubpl T C 12: 52,310,694 probably benign Het
Nup35 T A 2: 80,644,219 S93R possibly damaging Het
Olfr330 T C 11: 58,529,990 probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Rad23b C A 4: 55,370,457 P161Q possibly damaging Het
Sipa1l2 A G 8: 125,451,977 S1128P probably damaging Het
Terb2 T C 2: 122,204,808 probably benign Het
Trim72 A G 7: 128,004,770 Y96C probably damaging Het
Tyk2 T C 9: 21,111,043 D830G possibly damaging Het
Uri1 A G 7: 37,965,491 S259P probably benign Het
Usp38 A T 8: 80,985,558 L616H probably damaging Het
Uspl1 T A 5: 149,188,459 C73S probably damaging Het
Wdr7 C A 18: 63,796,235 D1047E probably benign Het
Other mutations in Pex3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex3 APN 10 13552853 unclassified probably null
IGL02367:Pex3 APN 10 13524899 missense probably benign 0.39
IGL02645:Pex3 APN 10 13546429 missense possibly damaging 0.92
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
Posted On2015-04-16