Incidental Mutation 'IGL03014:Pex10'
ID 453308
Institutional Source Beutler Lab
Gene Symbol Pex10
Ensembl Gene ENSMUSG00000029047
Gene Name peroxisomal biogenesis factor 10
Synonyms LOC230983, peroxisome biogenesis factor 10
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # IGL03014 (G1)
Quality Score 222
Status Validated
Chromosome 4
Chromosomal Location 155151487-155156863 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 155155076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000099469
Gene: ENSMUSG00000029047

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
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 96% (51/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
AW112010 A G 19: 11,025,456 (GRCm39) noncoding transcript Het
Ccdc134 T C 15: 82,014,306 (GRCm39) L13P probably damaging Het
Ccdc150 G T 1: 54,329,861 (GRCm39) V395F probably damaging Het
Cdh22 G T 2: 164,954,331 (GRCm39) S730* probably null Het
Cfap20dc A G 14: 8,431,608 (GRCm38) *675Q probably null Het
Chrng G T 1: 87,138,759 (GRCm39) probably null Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Csmd2 G T 4: 128,190,222 (GRCm39) M387I probably benign Het
Cux1 T C 5: 136,594,379 (GRCm39) probably benign Het
D130043K22Rik C T 13: 25,042,075 (GRCm39) P335S possibly damaging Het
Dctn1 A G 6: 83,174,351 (GRCm39) probably benign Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Dsn1 A T 2: 156,838,739 (GRCm39) M292K possibly damaging Het
Efemp1 A G 11: 28,876,218 (GRCm39) Y461C probably damaging Het
Efl1 A G 7: 82,301,094 (GRCm39) T33A probably damaging Het
Fbln2 T C 6: 91,242,901 (GRCm39) probably benign Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Hecw1 T A 13: 14,420,393 (GRCm39) Y1010F probably damaging Het
Igha A G 12: 113,222,713 (GRCm39) V236A unknown Het
Igsf9b T C 9: 27,233,932 (GRCm39) M377T probably benign Het
Itga9 A G 9: 118,457,212 (GRCm39) T108A probably benign Het
Kcna3 A T 3: 106,945,206 (GRCm39) M490L probably benign Het
Lama3 A T 18: 12,673,024 (GRCm39) Y886F possibly damaging Het
Lcorl T C 5: 45,931,371 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Odr4 C A 1: 150,258,804 (GRCm39) probably benign Het
Or1a1b G A 11: 74,097,653 (GRCm39) L130F probably damaging Het
Or51a39 A T 7: 102,362,753 (GRCm39) V289E probably null Het
Plcl2 G A 17: 50,918,029 (GRCm39) V943M possibly damaging Het
Prkcd T A 14: 30,329,294 (GRCm39) T164S probably damaging Het
Ptprn2 T A 12: 117,212,308 (GRCm39) L910Q probably damaging Het
Rab1b T C 19: 5,154,923 (GRCm39) I41V probably benign Het
Scpep1 T A 11: 88,824,271 (GRCm39) probably null Het
Sergef T C 7: 46,240,180 (GRCm39) T288A probably damaging Het
Setdb1 G A 3: 95,248,726 (GRCm39) P397S probably damaging Het
Setx T A 2: 29,029,423 (GRCm39) D230E probably damaging Het
Sin3a C A 9: 57,002,539 (GRCm39) probably benign Het
Smad5 T C 13: 56,883,754 (GRCm39) L380P probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stard9 A T 2: 120,532,675 (GRCm39) probably benign Het
Tek A G 4: 94,715,500 (GRCm39) D346G probably benign Het
Trav7d-4 T A 14: 53,007,353 (GRCm39) W12R unknown Het
Trmt1l G T 1: 151,333,681 (GRCm39) W728L probably damaging Het
Ubash3a C A 17: 31,458,198 (GRCm39) T559K probably damaging Het
Vmn1r72 T A 7: 11,403,711 (GRCm39) I246F possibly damaging Het
Zfp618 A T 4: 62,998,325 (GRCm39) Q109L probably damaging 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
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
R4544:Pex10 UTSW 4 155,154,952 (GRCm39) missense probably benign 0.01
R9645:Pex10 UTSW 4 155,153,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAAGGCTCGCACTAGCTAC -3'
(R):5'- GGTTCATGTCTCACAGATGCC -3'

Sequencing Primer
(F):5'- TCGCACTAGCTACGGACTG -3'
(R):5'- TCTCCAACTCAAGAGGTTTGG -3'
Posted On 2017-02-01