Incidental Mutation 'IGL03164:Pex7'
ID 411573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex7
Ensembl Gene ENSMUSG00000020003
Gene Name peroxisomal biogenesis factor 7
Synonyms peroxisome biogenesis factor 7
Accession Numbers
Essential gene? Possibly essential (E-score: 0.614) question?
Stock # IGL03164
Quality Score
Status
Chromosome 10
Chromosomal Location 19735836-19783420 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 19770461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000166511]
AlphaFold P97865
Predicted Effect probably benign
Transcript: ENSMUST00000020182
SMART Domains Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003

DomainStartEndE-ValueType
WD40 52 91 9.24e-4 SMART
WD40 95 136 6.14e-9 SMART
WD40 139 179 8.55e-8 SMART
WD40 182 222 3.5e-4 SMART
WD40 226 266 1.3e-7 SMART
WD40 270 310 6.66e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166511
SMART Domains Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003

DomainStartEndE-ValueType
WD40 52 91 9.24e-4 SMART
WD40 113 153 8.55e-8 SMART
WD40 156 196 3.5e-4 SMART
WD40 200 240 1.3e-7 SMART
WD40 244 284 6.66e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,070 (GRCm39) D256G probably damaging Het
Abcb11 A T 2: 69,122,343 (GRCm39) L380* probably null Het
Aco1 A T 4: 40,167,116 (GRCm39) N110I probably benign Het
Adamts9 T C 6: 92,866,918 (GRCm39) D126G probably damaging Het
Anks1b T G 10: 89,878,554 (GRCm39) V121G probably damaging Het
Ap1s3 A G 1: 79,602,887 (GRCm39) L40P probably damaging Het
Cd19 C A 7: 126,012,681 (GRCm39) M237I possibly damaging Het
Chil6 T C 3: 106,301,714 (GRCm39) T129A probably benign Het
Chtf18 A G 17: 25,945,816 (GRCm39) M94T probably benign Het
Clstn2 G T 9: 97,681,462 (GRCm39) D59E possibly damaging Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Ctnnbl1 A C 2: 157,659,681 (GRCm39) M253L probably benign Het
Erg T C 16: 95,210,730 (GRCm39) T41A possibly damaging Het
Gjd3 T A 11: 102,691,547 (GRCm39) N152I possibly damaging Het
Ints1 A G 5: 139,738,490 (GRCm39) L2084P probably damaging Het
Isoc1 C T 18: 58,806,404 (GRCm39) S238L probably damaging Het
Kdm5a T A 6: 120,415,980 (GRCm39) D1633E probably damaging Het
Krt76 T C 15: 101,795,886 (GRCm39) D428G possibly damaging Het
Lrp2 G T 2: 69,295,043 (GRCm39) T3425K probably damaging Het
Lta4h T C 10: 93,306,659 (GRCm39) probably benign Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nlrp5 T A 7: 23,117,798 (GRCm39) Y507* probably null Het
Nps T C 7: 134,874,039 (GRCm39) S53P probably damaging Het
Oprk1 A T 1: 5,669,087 (GRCm39) I178F probably damaging Het
Or2a12 C T 6: 42,905,064 (GRCm39) R300* probably null Het
Or5p1 T C 7: 107,916,901 (GRCm39) S267P probably damaging Het
Osgin2 G T 4: 16,001,938 (GRCm39) S204R probably benign Het
Otop1 G T 5: 38,445,306 (GRCm39) G155* probably null Het
Peli3 A G 19: 4,986,144 (GRCm39) probably null Het
Pfkm T C 15: 98,029,843 (GRCm39) L749P probably damaging Het
Pwp1 T A 10: 85,714,367 (GRCm39) F103Y probably benign Het
Rhod T C 19: 4,482,829 (GRCm39) K63E possibly damaging Het
Rtl1 T C 12: 109,559,367 (GRCm39) E824G probably damaging Het
Sema4d A G 13: 51,862,958 (GRCm39) F467L possibly damaging Het
Septin10 T C 10: 59,016,921 (GRCm39) E201G probably damaging Het
Slc37a3 G A 6: 39,322,237 (GRCm39) T389I probably benign Het
Slco2b1 C T 7: 99,334,743 (GRCm39) A243T probably damaging Het
Sorbs2 A G 8: 46,235,911 (GRCm39) T187A probably benign Het
Supt20 T A 3: 54,620,609 (GRCm39) D389E probably benign Het
Tchh A G 3: 93,352,699 (GRCm39) D713G unknown Het
Trappc10 T C 10: 78,056,076 (GRCm39) R209G probably damaging Het
Unc119 A G 11: 78,239,002 (GRCm39) D176G probably damaging Het
Usb1 G A 8: 96,060,112 (GRCm39) R21Q probably damaging Het
Other mutations in Pex7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Pex7 APN 10 19,770,557 (GRCm39) intron probably benign
IGL02833:Pex7 APN 10 19,770,500 (GRCm39) missense probably damaging 1.00
IGL02836:Pex7 APN 10 19,769,990 (GRCm39) splice site probably benign
plummage UTSW 10 19,770,061 (GRCm39) missense probably damaging 1.00
PIT4494001:Pex7 UTSW 10 19,770,469 (GRCm39) critical splice donor site probably null
R0230:Pex7 UTSW 10 19,780,331 (GRCm39) missense possibly damaging 0.50
R1136:Pex7 UTSW 10 19,764,434 (GRCm39) missense probably benign 0.31
R2049:Pex7 UTSW 10 19,770,061 (GRCm39) missense probably damaging 1.00
R4977:Pex7 UTSW 10 19,745,078 (GRCm39) missense probably benign 0.05
R5632:Pex7 UTSW 10 19,764,483 (GRCm39) missense probably damaging 1.00
R6901:Pex7 UTSW 10 19,736,740 (GRCm39) missense probably benign 0.03
R7561:Pex7 UTSW 10 19,770,012 (GRCm39) nonsense probably null
R8429:Pex7 UTSW 10 19,770,074 (GRCm39) missense probably damaging 0.96
R8775:Pex7 UTSW 10 19,760,522 (GRCm39) critical splice donor site probably null
R8775-TAIL:Pex7 UTSW 10 19,760,522 (GRCm39) critical splice donor site probably null
R9498:Pex7 UTSW 10 19,762,859 (GRCm39) nonsense probably null
Posted On 2016-08-02