Incidental Mutation 'R5457:Pex19'
ID 432785
Institutional Source Beutler Lab
Gene Symbol Pex19
Ensembl Gene ENSMUSG00000003464
Gene Name peroxisomal biogenesis factor 19
Synonyms peroxisome biogenesis factor 19, Pxf
MMRRC Submission 043020-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R5457 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171954322-171964060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 171958245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 75 (G75W)
Ref Sequence ENSEMBL: ENSMUSP00000106883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075895] [ENSMUST00000111252]
AlphaFold Q8VCI5
Predicted Effect probably damaging
Transcript: ENSMUST00000075895
AA Change: G167W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075289
Gene: ENSMUSG00000003464
AA Change: G167W

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Pex19 74 299 1.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111252
AA Change: G75W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106883
Gene: ENSMUSG00000003464
AA Change: G75W

DomainStartEndE-ValueType
Pfam:Pex19 9 207 5.7e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147799
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C A 8: 87,236,473 (GRCm39) V1114L probably benign Het
Actr5 G A 2: 158,477,918 (GRCm39) probably null Het
Adcy7 T C 8: 89,037,649 (GRCm39) L239P probably damaging Het
Afg3l1 T A 8: 124,216,707 (GRCm39) F315L possibly damaging Het
Agps A G 2: 75,684,596 (GRCm39) Y188C probably benign Het
Akt1 T C 12: 112,623,525 (GRCm39) T312A probably damaging Het
Ang2 T C 14: 51,433,292 (GRCm39) Y30C probably damaging Het
Angpt1 G A 15: 42,386,916 (GRCm39) T146I probably damaging Het
Atg16l1 T C 1: 87,702,813 (GRCm39) S288P probably damaging Het
Atp1b2 C T 11: 69,493,558 (GRCm39) G4R probably damaging Het
Best3 T C 10: 116,840,416 (GRCm39) F282S probably damaging Het
Cdkn2b A G 4: 89,225,391 (GRCm39) L98P probably damaging Het
Cenps A G 4: 149,216,094 (GRCm39) probably null Het
Clec16a G T 16: 10,363,396 (GRCm39) probably null Het
Cxcl13 A T 5: 96,104,830 (GRCm39) M1L unknown Het
Dcun1d4 A T 5: 73,688,908 (GRCm39) E149D probably damaging Het
Dlst G A 12: 85,168,914 (GRCm39) probably null Het
Dock10 C A 1: 80,501,781 (GRCm39) C1803F probably damaging Het
Dpp10 T A 1: 123,339,539 (GRCm39) K329N possibly damaging Het
Drosha T G 15: 12,926,115 (GRCm39) Y1235D probably benign Het
Eif2s3y G A Y: 1,016,057 (GRCm39) G213D probably damaging Homo
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
Fam171a2 T C 11: 102,328,362 (GRCm39) D799G possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fcrlb T C 1: 170,739,726 (GRCm39) T59A probably damaging Het
Fgd4 T C 16: 16,279,873 (GRCm39) R395G probably benign Het
Gm14496 A T 2: 181,639,401 (GRCm39) D497V probably damaging Het
Gpt2 A C 8: 86,238,967 (GRCm39) N267H possibly damaging Het
Grb14 A T 2: 64,747,442 (GRCm39) C43S probably damaging Het
Hjurp T TN 1: 88,194,247 (GRCm39) probably null Het
Igkv8-16 A G 6: 70,363,689 (GRCm39) V111A possibly damaging Het
Klra2 T A 6: 131,198,852 (GRCm39) S230C possibly damaging Het
Lamb3 G A 1: 193,008,302 (GRCm39) R245H probably damaging Het
Lamc3 A G 2: 31,821,997 (GRCm39) E1315G probably benign Het
Lpin2 A G 17: 71,550,367 (GRCm39) T672A probably damaging Het
Mcoln3 T A 3: 145,833,877 (GRCm39) I139N probably benign Het
Mcpt8 C T 14: 56,319,793 (GRCm39) C219Y probably benign Het
Mtcl3 A C 10: 29,072,720 (GRCm39) I671L probably benign Het
Mug2 G T 6: 122,026,688 (GRCm39) G541* probably null Het
Myo7b G T 18: 32,104,503 (GRCm39) probably null Het
Or10j2 C T 1: 173,098,141 (GRCm39) S133L probably benign Het
Or10j7 A G 1: 173,011,180 (GRCm39) S274P probably damaging Het
Or5ac22 T C 16: 59,135,213 (GRCm39) I186V probably benign Het
Or5k8 A T 16: 58,644,796 (GRCm39) I92N probably damaging Het
Or7e176 A T 9: 20,171,574 (GRCm39) Y146F probably damaging Het
Pclo C T 5: 14,726,157 (GRCm39) probably benign Het
Pdk2 C T 11: 94,919,408 (GRCm39) S289N probably damaging Het
Psma3 T G 12: 71,031,339 (GRCm39) S26A probably benign Het
Pth1r A T 9: 110,555,522 (GRCm39) I326N possibly damaging Het
Sbf2 T C 7: 109,912,037 (GRCm39) T1670A probably benign Het
Scn10a A G 9: 119,523,193 (GRCm39) Y67H probably damaging Het
Sec16a A T 2: 26,330,280 (GRCm39) D578E probably benign Het
Spta1 C T 1: 174,044,759 (GRCm39) A1465V probably damaging Het
Taar9 A G 10: 23,985,003 (GRCm39) F144L probably damaging Het
Tal1 T C 4: 114,925,777 (GRCm39) V282A probably benign Het
Tbrg4 C T 11: 6,570,947 (GRCm39) R175Q probably damaging Het
Tdp1 C T 12: 99,861,005 (GRCm39) Q215* probably null Het
Thsd4 A T 9: 59,887,060 (GRCm39) W921R probably damaging Het
Trrap A G 5: 144,786,787 (GRCm39) E3462G probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn T C 2: 76,541,265 (GRCm39) E25580G probably damaging Het
Ttn A T 2: 76,776,299 (GRCm39) I1581N possibly damaging Het
Vmn2r50 T C 7: 9,781,873 (GRCm39) T291A probably damaging Het
Zkscan14 T C 5: 145,138,169 (GRCm39) D106G probably benign 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
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
R9243: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 PCR Primer
(F):5'- GATATCTCTCCCAAATCTGGCC -3'
(R):5'- AACATTCCCAGCGTGGACAG -3'

Sequencing Primer
(F):5'- AAATCTGGCCCCCTTTGG -3'
(R):5'- GACAGATGGTCAGCTTAATACTCTC -3'
Posted On 2016-10-06