Incidental Mutation 'IGL02487:Pex10'
ID 295475
Institutional Source Australian Phenomics Network (link to record)
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: 0.949) question?
Stock # IGL02487
Quality Score
Status
Chromosome 4
Chromosomal Location 155151487-155156863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155155190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 288 (H288L)
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 damaging
Transcript: ENSMUST00000103180
AA Change: H288L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099469
Gene: ENSMUSG00000029047
AA Change: H288L

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
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T A 11: 54,227,769 (GRCm39) I308N possibly damaging Het
Adal C T 2: 120,985,877 (GRCm39) T204I probably benign Het
Akirin1 A G 4: 123,637,357 (GRCm39) F76S probably benign Het
Arhgef5 A T 6: 43,260,916 (GRCm39) N1447I probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
B230217C12Rik A G 11: 97,733,054 (GRCm39) N125S probably benign Het
Dcaf11 G T 14: 55,806,571 (GRCm39) K457N probably benign Het
Dnah10 G A 5: 124,870,916 (GRCm39) V2348M possibly damaging Het
Eif4g3 T C 4: 137,930,689 (GRCm39) V1665A possibly damaging Het
Fat4 A T 3: 38,941,394 (GRCm39) I96F probably damaging Het
Gm29253 T C 1: 75,149,321 (GRCm39) probably null Het
Gvin-ps6 A G 7: 106,022,471 (GRCm39) noncoding transcript Het
Hnrnpm C A 17: 33,867,787 (GRCm39) G676C probably damaging Het
Iah1 T C 12: 21,371,440 (GRCm39) M185T probably damaging Het
Klc1 A T 12: 111,738,886 (GRCm39) I45F probably damaging Het
Lce1h G A 3: 92,671,048 (GRCm39) P35S unknown Het
Lrrc37a T C 11: 103,386,863 (GRCm39) E2419G unknown Het
Lrrc8c T A 5: 105,754,457 (GRCm39) S77R probably benign Het
Mcm3ap T A 10: 76,343,389 (GRCm39) probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Ntng1 A T 3: 109,842,363 (GRCm39) S137T probably damaging Het
Odf2 C A 2: 29,810,851 (GRCm39) A578E possibly damaging Het
Pecam1 G A 11: 106,562,606 (GRCm39) T698I probably damaging Het
Pkhd1l1 T C 15: 44,322,822 (GRCm39) V36A possibly damaging Het
Podxl T C 6: 31,499,957 (GRCm39) *504W probably null Het
Rab42 A G 4: 132,029,614 (GRCm39) S203P probably benign Het
Rsf1 T C 7: 97,288,698 (GRCm39) S192P probably damaging Het
Scap C T 9: 110,207,758 (GRCm39) T489I probably benign Het
Sost C A 11: 101,857,633 (GRCm39) R56L possibly damaging Het
Speer4a3 T A 5: 26,156,605 (GRCm39) I125F probably benign Het
Spmip10 T A 18: 56,727,571 (GRCm39) W90R possibly damaging Het
Sptbn4 A G 7: 27,118,522 (GRCm39) V264A probably damaging Het
Stx3 A G 19: 11,760,469 (GRCm39) V236A probably damaging Het
Syt2 T C 1: 134,668,603 (GRCm39) F5S probably damaging Het
Thrap3 T C 4: 126,060,794 (GRCm39) D855G possibly damaging Het
Ticrr T C 7: 79,332,769 (GRCm39) V874A possibly damaging Het
Tmem26 A G 10: 68,614,563 (GRCm39) E326G probably benign Het
Tsga13 A T 6: 30,884,362 (GRCm39) Y119N probably damaging Het
Tspoap1 C T 11: 87,653,342 (GRCm39) T136I possibly damaging Het
Ttc21b T C 2: 66,065,500 (GRCm39) T425A probably benign Het
Ttc27 A G 17: 75,163,549 (GRCm39) Y719C probably damaging Het
Usp10 C A 8: 120,675,514 (GRCm39) S511Y probably damaging Het
Vmn1r197 A G 13: 22,512,792 (GRCm39) M238V probably damaging Het
Other mutations in Pex10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16