Incidental Mutation 'R9243:Pex19'
ID 701077
Institutional Source Beutler Lab
Gene Symbol Pex19
Ensembl Gene ENSMUSG00000003464
Gene Name peroxisomal biogenesis factor 19
Synonyms peroxisome biogenesis factor 19, Pxf
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R9243 (G1)
Quality Score 217.468
Status Not validated
Chromosome 1
Chromosomal Location 171954322-171964060 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC to GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC at 171956150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075895] [ENSMUST00000111252]
AlphaFold Q8VCI5
Predicted Effect probably null
Transcript: ENSMUST00000075895
SMART Domains Protein: ENSMUSP00000075289
Gene: ENSMUSG00000003464

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Pex19 74 299 1.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111252
SMART Domains Protein: ENSMUSP00000106883
Gene: ENSMUSG00000003464

DomainStartEndE-ValueType
Pfam:Pex19 9 207 5.7e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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 of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,188,035 (GRCm39) S1816R probably benign Het
Appl1 A T 14: 26,649,710 (GRCm39) F605L possibly damaging Het
Cacna1g T A 11: 94,347,893 (GRCm39) I732F possibly damaging Het
Capg T A 6: 72,538,070 (GRCm39) S319T probably benign Het
Cdh17 T A 4: 11,771,333 (GRCm39) F38L probably benign Het
Cep295 T A 9: 15,243,605 (GRCm39) N1617I probably benign Het
Cep57 C T 9: 13,738,204 (GRCm39) probably benign Het
Cfap46 A T 7: 139,195,265 (GRCm39) probably benign Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
Dock7 A G 4: 98,857,871 (GRCm39) V1481A unknown Het
Exoc2 T C 13: 31,109,778 (GRCm39) K197E probably benign Het
Fancg C T 4: 43,006,565 (GRCm39) V330I possibly damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gad2 A G 2: 22,525,053 (GRCm39) E279G possibly damaging Het
Gria1 A G 11: 57,128,888 (GRCm39) Y454C probably benign Het
Grik3 C T 4: 125,601,690 (GRCm39) R856C probably benign Het
Hdac4 C A 1: 91,900,511 (GRCm39) R622I probably damaging Het
Hdac4 T C 1: 91,900,512 (GRCm39) R622G probably benign Het
Htt T C 5: 35,056,276 (GRCm39) probably benign Het
Idh1 A G 1: 65,207,656 (GRCm39) probably null Het
Igf1r A G 7: 67,861,775 (GRCm39) S1112G probably benign Het
Impg2 A T 16: 56,051,823 (GRCm39) S242C probably damaging Het
Itgb1 T A 8: 129,433,587 (GRCm39) S34T probably benign Het
Kcnh8 A G 17: 53,205,542 (GRCm39) I546V probably damaging Het
Klrd1 T G 6: 129,568,795 (GRCm39) M1R probably null Het
Krtap16-1 A T 11: 99,876,644 (GRCm39) C253* probably null Het
Mapk7 A G 11: 61,384,535 (GRCm39) I57T possibly damaging Het
Msrb2 A G 2: 19,388,073 (GRCm39) N74D probably benign Het
Myd88 A T 9: 119,168,773 (GRCm39) S85T probably benign Het
Myo1c G T 11: 75,541,437 (GRCm39) probably benign Het
Nnt T A 13: 119,494,060 (GRCm39) N674Y unknown Het
Nrcam A G 12: 44,620,607 (GRCm39) Y878C probably damaging Het
Obscn T C 11: 59,023,392 (GRCm39) T662A probably benign Het
Or14j4 T C 17: 37,921,408 (GRCm39) Q78R probably benign Het
Or4l15 A G 14: 50,197,881 (GRCm39) V216A probably benign Het
Or51ah3 A G 7: 103,209,782 (GRCm39) S33G probably benign Het
Or8k40 A G 2: 86,584,282 (GRCm39) S267P possibly damaging Het
Pappa2 C A 1: 158,763,763 (GRCm39) V583L probably damaging Het
Parp1 T G 1: 180,415,680 (GRCm39) S500A probably benign Het
Pcdhb17 A G 18: 37,619,989 (GRCm39) D593G probably damaging Het
Prrc1 C G 18: 57,496,271 (GRCm39) S74W possibly damaging Het
Rag2 G A 2: 101,460,419 (GRCm39) G243D probably damaging Het
Sgpp1 T C 12: 75,781,961 (GRCm39) E126G probably damaging Het
Skic2 G A 17: 35,064,198 (GRCm39) T496M probably benign Het
Slc17a1 C A 13: 24,064,432 (GRCm39) F329L probably benign Het
Slc52a3 G A 2: 151,846,512 (GRCm39) V158I probably benign Het
Slf1 T A 13: 77,273,575 (GRCm39) T75S possibly damaging Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Tmem125 A T 4: 118,399,089 (GRCm39) V114E probably damaging Het
Ube2f A T 1: 91,181,980 (GRCm39) probably benign Het
Zdhhc19 T A 16: 32,315,992 (GRCm39) F30I probably damaging Het
Zfp236 T C 18: 82,662,050 (GRCm39) probably benign Het
Zfp462 C A 4: 55,009,595 (GRCm39) Y520* probably null Het
Zzz3 A G 3: 152,133,920 (GRCm39) D326G probably damaging Het
Other mutations in Pex19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02123:Pex19 APN 1 171,961,853 (GRCm39) missense probably damaging 1.00
IGL02656:Pex19 APN 1 171,958,252 (GRCm39) missense probably benign 0.11
R5457:Pex19 UTSW 1 171,958,245 (GRCm39) missense probably damaging 1.00
R5590:Pex19 UTSW 1 171,960,779 (GRCm39) missense probably benign 0.00
R5809:Pex19 UTSW 1 171,958,306 (GRCm39) missense probably damaging 0.98
R6148:Pex19 UTSW 1 171,961,606 (GRCm39) missense probably damaging 0.96
R7088:Pex19 UTSW 1 171,956,150 (GRCm39) frame shift probably null
R7705:Pex19 UTSW 1 171,956,150 (GRCm39) frame shift probably null
R7854:Pex19 UTSW 1 171,954,417 (GRCm39) critical splice donor site probably null
R9017:Pex19 UTSW 1 171,956,150 (GRCm39) frame shift probably null
R9018:Pex19 UTSW 1 171,956,150 (GRCm39) frame shift probably null
R9152:Pex19 UTSW 1 171,956,150 (GRCm39) frame shift probably null
R9781:Pex19 UTSW 1 171,956,855 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2022-03-25