Incidental Mutation 'R6148:Pex19'
ID 488990
Institutional Source Beutler Lab
Gene Symbol Pex19
Ensembl Gene ENSMUSG00000003464
Gene Name peroxisomal biogenesis factor 19
Synonyms peroxisome biogenesis factor 19, Pxf
MMRRC Submission 044295-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R6148 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171954322-171964060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 171961606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 271 (E271K)
Ref Sequence ENSEMBL: ENSMUSP00000075289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075895] [ENSMUST00000111252]
AlphaFold Q8VCI5
Predicted Effect probably damaging
Transcript: ENSMUST00000075895
AA Change: E271K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075289
Gene: ENSMUSG00000003464
AA Change: E271K

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:Pex19 74 299 1.5e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111252
AA Change: E179K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106883
Gene: ENSMUSG00000003464
AA Change: E179K

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: ENSMUST00000147799
Meta Mutation Damage Score 0.5341 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 95% (61/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,234,200 (GRCm39) C1067S possibly damaging Het
AAdacl4fm3 T C 4: 144,447,887 (GRCm39) T30A possibly damaging Het
Agbl3 T A 6: 34,834,688 (GRCm39) S952R possibly damaging Het
Ano9 A G 7: 140,686,698 (GRCm39) Y429H probably damaging Het
Bbs7 C A 3: 36,667,415 (GRCm39) R7L probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Catsper4 A G 4: 133,945,240 (GRCm39) V206A probably damaging Het
Ccdc73 T G 2: 104,822,482 (GRCm39) S810R possibly damaging Het
Cd177 A T 7: 24,443,698 (GRCm39) L800* probably null Het
Cd34 T C 1: 194,630,316 (GRCm39) probably null Het
Cep78 G A 19: 15,959,150 (GRCm39) R95* probably null Het
Cfap69 T C 5: 5,713,996 (GRCm39) D12G probably benign Het
Cpne7 A G 8: 123,854,171 (GRCm39) D286G probably benign Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cxcl5 A T 5: 90,907,565 (GRCm39) I46L probably benign Het
Cyp19a1 C T 9: 54,087,540 (GRCm39) G59D probably damaging Het
Dclre1c A G 2: 3,438,742 (GRCm39) D35G probably damaging Het
Defa41 A G 8: 21,692,428 (GRCm39) N83S probably benign Het
Dvl1 A G 4: 155,939,409 (GRCm39) Y279C probably damaging Het
Fes A G 7: 80,030,044 (GRCm39) L578P probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fmn2 T C 1: 174,494,229 (GRCm39) S1248P probably damaging Het
Fmo1 T G 1: 162,679,088 (GRCm39) S53R probably damaging Het
Gabrg1 A T 5: 70,931,804 (GRCm39) M313K probably damaging Het
Galnt10 T C 11: 57,675,474 (GRCm39) C578R probably damaging Het
Gpr39 T C 1: 125,800,323 (GRCm39) V358A probably damaging Het
Gsap A G 5: 21,431,323 (GRCm39) R216G probably damaging Het
Gsap A T 5: 21,475,575 (GRCm39) T570S probably benign Het
Gucy2d A T 7: 98,093,030 (GRCm39) I136L probably benign Het
Hap1 A T 11: 100,240,218 (GRCm39) V294E probably damaging Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Irf5 T C 6: 29,535,958 (GRCm39) L324P probably damaging Het
Itsn1 C T 16: 91,613,740 (GRCm39) R251C probably damaging Het
Klf11 T C 12: 24,701,567 (GRCm39) probably null Het
Kpna6 G A 4: 129,543,099 (GRCm39) Q439* probably null Het
Mark4 A T 7: 19,163,441 (GRCm39) S563T probably benign Het
Mrpl21 A T 19: 3,333,084 (GRCm39) I5L probably benign Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myrf G A 19: 10,189,839 (GRCm39) T815I probably damaging Het
Olfr515-ps1 A T 7: 108,444,178 (GRCm39) probably null Het
Or10d4c G T 9: 39,558,555 (GRCm39) D178Y probably damaging Het
Or11g27 A G 14: 50,771,778 (GRCm39) N303S probably benign Het
Or4c15 C T 2: 88,760,597 (GRCm39) V21I probably benign Het
Or52n3 A G 7: 104,530,289 (GRCm39) Y125C possibly damaging Het
Os9 T C 10: 126,935,812 (GRCm39) D280G probably benign Het
Pcdhb14 A G 18: 37,582,283 (GRCm39) N463S probably damaging Het
Ppdpf G A 2: 180,829,641 (GRCm39) S32N probably benign Het
Prdm2 A G 4: 142,859,477 (GRCm39) I1271T probably benign Het
Rbbp4 T C 4: 129,215,751 (GRCm39) T262A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sult1e1 A T 5: 87,727,770 (GRCm39) S171T probably damaging Het
Tns1 T C 1: 73,992,612 (GRCm39) T689A probably damaging Het
Unc13c G C 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r52 T C 7: 9,905,090 (GRCm39) I250V probably benign Het
Vmn2r55 C A 7: 12,402,069 (GRCm39) L406F probably benign Het
Wdcp T C 12: 4,900,621 (GRCm39) V159A possibly damaging Het
Zbtb3 C T 19: 8,781,560 (GRCm39) A391V probably benign Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T 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
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
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'- TGTCACTACAAAGACTGCATACCG -3'
(R):5'- CAGACACTGTTCGCCATTAGC -3'

Sequencing Primer
(F):5'- ATACCGTGGCCAGCAGGAATC -3'
(R):5'- CATCCAGGTCAAAGTTGAGGCC -3'
Posted On 2017-10-10