Incidental Mutation 'IGL02367:Pex3'
ID 290777
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 # IGL02367
Quality Score
Status
Chromosome 10
Chromosomal Location 13399586-13428886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13400643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 303 (Q303K)
Ref Sequence ENSEMBL: ENSMUSP00000101178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]
AlphaFold Q9QXY9
Predicted Effect probably benign
Transcript: ENSMUST00000019945
AA Change: Q369K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809
AA Change: Q369K

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
AA Change: Q303K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101178
Gene: ENSMUSG00000019809
AA Change: Q303K

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: ENSMUST00000133332
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,748 (GRCm39) L1215P probably benign Het
Angptl7 T C 4: 148,584,601 (GRCm39) N49S possibly damaging Het
Asns A G 6: 7,685,411 (GRCm39) probably benign Het
Atr T A 9: 95,781,194 (GRCm39) Y1419* probably null Het
Bptf A T 11: 106,964,178 (GRCm39) I1672N probably benign Het
Cgas G A 9: 78,341,667 (GRCm39) T370I probably benign Het
Chd1 A G 17: 17,610,315 (GRCm39) T490A probably damaging Het
Cyfip2 A T 11: 46,167,732 (GRCm39) C223* probably null Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dnah12 T C 14: 26,430,316 (GRCm39) V308A probably benign Het
Dync2h1 A G 9: 7,158,926 (GRCm39) V703A probably damaging Het
Fgd3 A G 13: 49,440,802 (GRCm39) F210L probably damaging Het
Gm6526 T G 14: 43,988,262 (GRCm39) V171G probably damaging Het
Grin3a A G 4: 49,702,805 (GRCm39) Y894H probably damaging Het
Grm3 C A 5: 9,561,660 (GRCm39) C730F probably damaging Het
Habp4 C A 13: 64,321,905 (GRCm39) P181T probably damaging Het
Hdac4 A G 1: 91,886,171 (GRCm39) probably benign Het
Ints5 A G 19: 8,872,959 (GRCm39) D306G probably benign Het
Mid2 T A X: 139,637,245 (GRCm39) I273N probably damaging Het
Ndufs2 A T 1: 171,066,934 (GRCm39) Y114* probably null Het
Neu4 G T 1: 93,952,213 (GRCm39) R194L probably damaging Het
Ntng1 A T 3: 110,042,829 (GRCm39) probably null Het
Nub1 A G 5: 24,894,392 (GRCm39) M1V probably null Het
Olfml2a A G 2: 38,844,680 (GRCm39) T379A probably benign Het
Or9e1 A T 11: 58,732,338 (GRCm39) I133F probably benign Het
Pmp2 A T 3: 10,247,560 (GRCm39) I43N probably damaging Het
Pnliprp1 T A 19: 58,726,601 (GRCm39) D319E probably benign Het
Rap1gap2 A T 11: 74,288,181 (GRCm39) probably null Het
Rpl15-ps6 T C 15: 52,341,368 (GRCm39) noncoding transcript Het
Rwdd3 A G 3: 120,952,679 (GRCm39) V104A probably damaging Het
Sbf1 A T 15: 89,191,775 (GRCm39) V157E probably damaging Het
Slc4a11 T A 2: 130,526,879 (GRCm39) I750F probably damaging Het
Tcea1 G A 1: 4,948,356 (GRCm39) probably null Het
Ush2a A T 1: 188,516,943 (GRCm39) M3218L probably benign Het
Utp20 G A 10: 88,607,715 (GRCm39) probably benign Het
Zfp493 T A 13: 67,935,089 (GRCm39) Y347* probably null Het
Zswim6 T C 13: 107,880,637 (GRCm39) noncoding transcript Het
Other mutations in Pex3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex3 APN 10 13,428,597 (GRCm39) splice site probably null
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