Incidental Mutation 'R4544:Pex10'
ID 333663
Institutional Source Beutler Lab
Gene Symbol Pex10
Ensembl Gene ENSMUSG00000029047
Gene Name peroxisomal biogenesis factor 10
Synonyms LOC230983, peroxisome biogenesis factor 10
MMRRC Submission 041779-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R4544 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155151487-155156863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155154952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 235 (Y235H)
Ref Sequence ENSEMBL: ENSMUSP00000099469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030914] [ENSMUST00000103180]
AlphaFold B1AUE5
Predicted Effect probably benign
Transcript: ENSMUST00000030914
SMART Domains Protein: ENSMUSP00000030914
Gene: ENSMUSG00000029048

DomainStartEndE-ValueType
Pfam:Rer1 20 185 4.1e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103180
AA Change: Y235H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099469
Gene: ENSMUSG00000029047
AA Change: Y235H

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 16 241 2.3e-43 PFAM
low complexity region 248 260 N/A INTRINSIC
RING 271 308 4.48e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149796
Meta Mutation Damage Score 0.1053 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit partial neonatal mortality due to respiratory distress, loss of embryonic movement, and prenatal pathology including altered biochemistry, defects in axonal integrity, decreased Schwann cell number, and defects at the neuromuscular junction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
C1s1 A G 6: 124,508,499 (GRCm39) S497P probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Chil4 C A 3: 106,117,922 (GRCm39) R116L probably damaging Het
Cmpk2 A G 12: 26,528,016 (GRCm39) E411G probably damaging Het
Cmya5 G A 13: 93,228,426 (GRCm39) R2221* probably null Het
Csmd1 A T 8: 16,760,652 (GRCm39) F161Y possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Dppa3 A G 6: 122,603,726 (GRCm39) probably benign Het
Ednra A G 8: 78,401,540 (GRCm39) probably null Het
Fancd2 A G 6: 113,549,603 (GRCm39) probably null Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Fndc1 T A 17: 7,992,376 (GRCm39) D440V unknown Het
Gm9934 A G 7: 92,702,188 (GRCm39) noncoding transcript Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Ifi205 T C 1: 173,854,139 (GRCm39) I171M possibly damaging Het
Ifi213 T C 1: 173,409,693 (GRCm39) probably null Het
Insig2 A T 1: 121,239,921 (GRCm39) probably benign Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Krt23 G A 11: 99,369,102 (GRCm39) T397M probably benign Het
Lepr G A 4: 101,625,425 (GRCm39) V527I possibly damaging Het
Lmo2 C T 2: 103,806,382 (GRCm39) P25L probably damaging Het
Lsr C T 7: 30,671,401 (GRCm39) V111M probably damaging Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Mkx T C 18: 7,000,651 (GRCm39) Y97C probably damaging Het
Mndal A T 1: 173,703,230 (GRCm39) Y58* probably null Het
Myo9b T C 8: 71,780,585 (GRCm39) V494A probably damaging Het
Nek1 C T 8: 61,469,338 (GRCm39) Q132* probably null Het
Or2a12 C T 6: 42,904,348 (GRCm39) S61L probably damaging Het
Or6c5 A C 10: 129,074,027 (GRCm39) N3T probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pde8a A T 7: 80,977,847 (GRCm39) R713S probably damaging Het
Pik3cb T A 9: 98,921,812 (GRCm39) K1050I probably damaging Het
Prss56 A G 1: 87,112,364 (GRCm39) D85G probably damaging Het
Psg26 T C 7: 18,212,464 (GRCm39) N297S probably damaging Het
Rdh16f1 T C 10: 127,626,706 (GRCm39) L253S probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Slc8b1 G A 5: 120,669,218 (GRCm39) probably null Het
Sorbs1 G A 19: 40,300,294 (GRCm39) T575M probably damaging Het
Syne3 T A 12: 104,925,728 (GRCm39) K313M probably damaging Het
Tas2r108 A G 6: 40,470,742 (GRCm39) T73A probably benign Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Uba52rt C T 4: 3,973,244 (GRCm39) R106H probably benign Het
Ubr3 G A 2: 69,786,437 (GRCm39) M850I probably benign Het
Vmn2r78 A T 7: 86,570,399 (GRCm39) M306L probably benign Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown Het
Other mutations in Pex10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487:Pex10 APN 4 155,155,190 (GRCm39) missense probably damaging 1.00
IGL03179:Pex10 APN 4 155,152,354 (GRCm39) missense probably benign
IGL03014:Pex10 UTSW 4 155,155,076 (GRCm39) intron probably benign
R0088:Pex10 UTSW 4 155,154,955 (GRCm39) missense probably damaging 0.98
R0445:Pex10 UTSW 4 155,153,531 (GRCm39) splice site probably null
R4191:Pex10 UTSW 4 155,152,362 (GRCm39) critical splice donor site probably null
R9645:Pex10 UTSW 4 155,153,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTCTTGTTCTCGGGACAC -3'
(R):5'- ACACGGCTCTGTCTTCAAGG -3'

Sequencing Primer
(F):5'- GAGGCCTGGCTGAATATAAAACCTC -3'
(R):5'- GGCTCTGTCTTCAAGGGAACTC -3'
Posted On 2015-08-18