Incidental Mutation 'R7854:Pex19'
ID 607114
Institutional Source Beutler Lab
Gene Symbol Pex19
Ensembl Gene ENSMUSG00000003464
Gene Name peroxisomal biogenesis factor 19
Synonyms peroxisome biogenesis factor 19, Pxf
MMRRC Submission 045907-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R7854 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171954322-171964060 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 171954417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027833] [ENSMUST00000075895] [ENSMUST00000075895] [ENSMUST00000111252] [ENSMUST00000135192]
AlphaFold Q8VCI5
Predicted Effect probably benign
Transcript: ENSMUST00000027833
SMART Domains Protein: ENSMUSP00000027833
Gene: ENSMUSG00000026553

DomainStartEndE-ValueType
WD40 2 37 2.86e0 SMART
WD40 40 79 1.11e-6 SMART
WD40 82 121 4.76e-6 SMART
WD40 124 163 2.24e-11 SMART
WD40 194 233 2.98e-7 SMART
WD40 238 277 8.42e-7 SMART
WD40 280 318 1.38e1 SMART
Pfam:Coatomer_WDAD 338 776 5.4e-144 PFAM
Pfam:COPI_C 824 1233 1.4e-190 PFAM
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 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 null
Transcript: ENSMUST00000111252
SMART Domains Protein: ENSMUSP00000106883
Gene: ENSMUSG00000003464

DomainStartEndE-ValueType
Pfam:Pex19 9 207 5.7e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135192
SMART Domains Protein: ENSMUSP00000118179
Gene: ENSMUSG00000026553

DomainStartEndE-ValueType
WD40 2 37 2.86e0 SMART
WD40 40 79 1.11e-6 SMART
WD40 82 121 4.76e-6 SMART
WD40 124 163 2.24e-11 SMART
WD40 194 233 2.98e-7 SMART
WD40 238 277 8.42e-7 SMART
WD40 280 318 1.38e1 SMART
Pfam:Coatomer_WDAD 338 767 1.1e-148 PFAM
Pfam:COPI_C 815 1224 3.6e-216 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,741,207 (GRCm39) I86F probably damaging Het
Als2cl A G 9: 110,727,564 (GRCm39) *953W probably null Het
Ap1g2 A G 14: 55,343,390 (GRCm39) F66L probably damaging Het
Aqp12 T G 1: 92,934,176 (GRCm39) C18G probably damaging Het
Atp9a T C 2: 168,490,523 (GRCm39) I826V probably benign Het
C1ra A G 6: 124,494,700 (GRCm39) Q321R probably benign Het
Calcoco1 T C 15: 102,627,991 (GRCm39) I48V possibly damaging Het
Cep63 A T 9: 102,480,197 (GRCm39) S269R probably damaging Het
Chchd7 T C 4: 3,943,422 (GRCm39) V63A possibly damaging Het
Dennd5b T C 6: 148,969,964 (GRCm39) D163G probably benign Het
Dpep2 T C 8: 106,716,160 (GRCm39) D251G Het
Ercc6 T C 14: 32,288,249 (GRCm39) L807P probably damaging Het
Fads6 A T 11: 115,188,222 (GRCm39) D27E probably benign Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Glce A T 9: 61,977,773 (GRCm39) I37N probably benign Het
Gps2 T C 11: 69,806,030 (GRCm39) L128P probably damaging Het
Gramd2b A G 18: 56,611,926 (GRCm39) T130A probably damaging Het
Hectd4 T A 5: 121,467,631 (GRCm39) Y2527N probably benign Het
Itpr1 A G 6: 108,364,330 (GRCm39) D820G probably damaging Het
Itsn2 T C 12: 4,751,276 (GRCm39) Y1289H probably damaging Het
Kcnh6 A T 11: 105,908,172 (GRCm39) I263F probably damaging Het
Kcns2 A T 15: 34,839,917 (GRCm39) M427L probably benign Het
Mptx1 A T 1: 174,159,966 (GRCm39) M91L probably benign Het
Ms4a20 T A 19: 11,089,741 (GRCm39) Y48F probably benign Het
Mtx2 A G 2: 74,699,231 (GRCm39) Y128C probably damaging Het
Myh9 A T 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndufs2 T C 1: 171,066,938 (GRCm39) D140G probably damaging Het
Obscn T C 11: 58,981,538 (GRCm39) T1827A probably benign Het
Ogn A T 13: 49,774,514 (GRCm39) Y219F possibly damaging Het
Or1ak2 A G 2: 36,828,036 (GRCm39) R302G probably benign Het
Or51f2 C T 7: 102,526,992 (GRCm39) R222* probably null Het
Parp4 A G 14: 56,896,805 (GRCm39) E1943G unknown Het
Prss53 T C 7: 127,488,117 (GRCm39) N166S probably benign Het
Prx T A 7: 27,216,066 (GRCm39) V328E probably damaging Het
Pstpip2 C T 18: 77,962,004 (GRCm39) T258I probably benign Het
Rasgrp4 C T 7: 28,850,035 (GRCm39) P58L unknown Het
Ros1 T C 10: 52,004,563 (GRCm39) Y1019C probably damaging Het
Rptor T C 11: 119,748,779 (GRCm39) M787T probably benign Het
Rsf1 GGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Spef2 T A 15: 9,596,730 (GRCm39) R1440W possibly damaging Het
Spta1 T A 1: 174,046,396 (GRCm39) probably null Het
Sptbn4 T C 7: 27,061,835 (GRCm39) I2335V probably benign Het
Srp68 G C 11: 116,144,909 (GRCm39) probably null Het
Taar1 A G 10: 23,796,680 (GRCm39) D126G probably benign Het
Tdrd9 A G 12: 112,013,395 (GRCm39) T1210A probably benign Het
Tle5 A G 10: 81,401,481 (GRCm39) H183R probably damaging Het
Tpcn1 A G 5: 120,687,653 (GRCm39) F364L probably damaging Het
Trav2 A T 14: 52,805,238 (GRCm39) K20* probably null Het
Trpa1 T C 1: 14,951,918 (GRCm39) E927G probably benign Het
Tyk2 A T 9: 21,026,776 (GRCm39) D637E probably benign Het
Vmn1r200 T C 13: 22,580,009 (GRCm39) F271L probably benign Het
Vmn1r231 T A 17: 21,110,894 (GRCm39) D7V probably damaging Het
Wwc2 G A 8: 48,321,512 (GRCm39) T534I unknown 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
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'- GGTAGAACGATATTATTGGCTGC -3'
(R):5'- TAAGGGGCTCGTGAAACAGC -3'

Sequencing Primer
(F):5'- CGATATTATTGGCTGCTCAAGTC -3'
(R):5'- CGTGAAACAGCTCTTTACGG -3'
Posted On 2019-12-20