Incidental Mutation 'R9781:Pex19'
ID 734022
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 # R9781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171954322-171964060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171956855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 105 (F105Y)
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: F105Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075289
Gene: ENSMUSG00000003464
AA Change: F105Y

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,519,860 (GRCm39) F1386L probably benign Het
Aoc1l2 G A 6: 48,907,660 (GRCm39) S220N possibly damaging Het
Ap3d1 A C 10: 80,545,609 (GRCm39) L1040R possibly damaging Het
Bag4 T A 8: 26,259,564 (GRCm39) N212Y probably damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car12 T G 9: 66,624,844 (GRCm39) S30A probably benign Het
Ccdc14 A T 16: 34,543,984 (GRCm39) T829S possibly damaging Het
Ccn6 T A 10: 39,027,167 (GRCm39) *355L probably null Het
Cdc14a A T 3: 116,122,274 (GRCm39) I231N probably benign Het
Ceacam14 A T 7: 17,549,082 (GRCm39) I158F possibly damaging Het
Clca4a G T 3: 144,667,713 (GRCm39) S419R probably benign Het
Clec2g A G 6: 128,960,012 (GRCm39) N258D probably benign Het
Cntn5 A C 9: 10,048,686 (GRCm39) probably null Het
Col5a3 T A 9: 20,721,272 (GRCm39) S72C unknown Het
Dmbt1 G C 7: 130,639,599 (GRCm39) V46L probably benign Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnase1 T C 16: 3,857,054 (GRCm39) S204P probably benign Het
Dnhd1 A G 7: 105,352,917 (GRCm39) E2690G probably benign Het
Dst T C 1: 34,218,075 (GRCm39) L1505P probably benign Het
Dzip1 G A 14: 119,148,834 (GRCm39) L282F probably benign Het
E330034G19Rik A G 14: 24,359,528 (GRCm39) E313G unknown Het
Epc1 A T 18: 6,455,187 (GRCm39) probably null Het
Herc1 T C 9: 66,280,004 (GRCm39) M304T probably benign Het
Herc2 A T 7: 55,750,096 (GRCm39) I594F possibly damaging Het
Hivep2 T A 10: 14,005,828 (GRCm39) S809T probably benign Het
Hnrnph3 A T 10: 62,853,861 (GRCm39) M132K unknown Het
Hrnr A T 3: 93,239,696 (GRCm39) R3311S unknown Het
Jph3 T C 8: 122,457,380 (GRCm39) F7L probably damaging Het
Med13l C T 5: 118,868,032 (GRCm39) T732M possibly damaging Het
Mocos A T 18: 24,828,939 (GRCm39) H748L probably benign Het
Mrc1 A G 2: 14,249,100 (GRCm39) H212R probably benign Het
Mrc1 A T 2: 14,310,175 (GRCm39) Y812F possibly damaging Het
Mthfr T C 4: 148,132,710 (GRCm39) I296T probably damaging Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Nefh G A 11: 4,895,271 (GRCm39) T306I probably damaging Het
Nme7 C A 1: 164,155,890 (GRCm39) A30E possibly damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Pappa T A 4: 65,043,104 (GRCm39) L109Q possibly damaging Het
Pcdha2 A G 18: 37,074,102 (GRCm39) S578G probably benign Het
Pcf11 A T 7: 92,297,228 (GRCm39) D1361E possibly damaging Het
Pcm1 T C 8: 41,720,398 (GRCm39) S320P probably damaging Het
Pgap4 C T 4: 49,586,890 (GRCm39) V93I probably benign Het
Pggt1b A T 18: 46,392,779 (GRCm39) M124K probably damaging Het
Phkg1 T A 5: 129,895,807 (GRCm39) H148L probably damaging Het
Phlpp2 G T 8: 110,662,178 (GRCm39) R855L possibly damaging Het
Pkhd1 T A 1: 20,187,665 (GRCm39) I3548L possibly damaging Het
Plce1 T G 19: 38,513,654 (GRCm39) S318A probably damaging Het
Plcxd2 A G 16: 45,830,117 (GRCm39) W35R probably benign Het
Prl2b1 T A 13: 27,569,129 (GRCm39) E156D possibly damaging Het
Ptpn21 A G 12: 98,655,170 (GRCm39) V599A probably damaging Het
Raly T C 2: 154,699,265 (GRCm39) V23A probably damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rhbdl1 A G 17: 26,055,443 (GRCm39) V48A probably benign Het
Rhpn1 C T 15: 75,582,543 (GRCm39) Q212* probably null Het
Sec24b G T 3: 129,789,742 (GRCm39) P760T probably damaging Het
Septin8 C A 11: 53,422,889 (GRCm39) Q33K probably damaging Het
Serpinb6a T C 13: 34,109,346 (GRCm39) T150A probably benign Het
Shmt1 A T 11: 60,692,329 (GRCm39) H142Q probably damaging Het
Slc27a3 G A 3: 90,296,591 (GRCm39) S127L Het
Slc4a5 G A 6: 83,239,466 (GRCm39) A242T probably benign Het
Sphkap G A 1: 83,255,772 (GRCm39) T659I possibly damaging Het
Ssbp3 T C 4: 106,905,224 (GRCm39) S381P probably damaging Het
Stxbp5l C T 16: 37,165,485 (GRCm39) D78N probably benign Het
Suv39h2 G T 2: 3,463,631 (GRCm39) Q362K probably benign Het
Tcerg1 G A 18: 42,701,030 (GRCm39) R828Q probably damaging Het
Tgm2 T G 2: 157,971,321 (GRCm39) D306A probably damaging Het
Tmem79 A G 3: 88,239,931 (GRCm39) C260R possibly damaging Het
Ubn2 C A 6: 38,466,190 (GRCm39) A508E probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Wnt16 T C 6: 22,291,114 (GRCm39) F181L probably damaging Het
Zfp326 T C 5: 106,062,825 (GRCm39) F565L unknown Het
Zfp62 T A 11: 49,106,297 (GRCm39) C129* probably null 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
R9243:Pex19 UTSW 1 171,956,150 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CCCAATATGAGCTCGTTTAAGC -3'
(R):5'- GTAAGCTAGATTCCCACAGCTC -3'

Sequencing Primer
(F):5'- TAGCCCCAGGGTGATGCTATAG -3'
(R):5'- AAGCTAGATTCCCACAGCTCTTTCTC -3'
Posted On 2022-11-14