Incidental Mutation 'IGL02321:Pex26'
ID 288254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex26
Ensembl Gene ENSMUSG00000067825
Gene Name peroxisomal biogenesis factor 26
Synonyms 4632428M11Rik, peroxisome biogenesis factor 26
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02321
Quality Score
Status
Chromosome 6
Chromosomal Location 121160626-121175796 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 121170468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088561] [ENSMUST00000118234] [ENSMUST00000120066] [ENSMUST00000125633]
AlphaFold Q8BGI5
Predicted Effect probably benign
Transcript: ENSMUST00000088561
SMART Domains Protein: ENSMUSP00000085921
Gene: ENSMUSG00000067825

DomainStartEndE-ValueType
Pfam:Pex26 1 302 9.2e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118234
SMART Domains Protein: ENSMUSP00000113981
Gene: ENSMUSG00000067825

DomainStartEndE-ValueType
Pfam:Pex26 1 137 2e-70 PFAM
low complexity region 152 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120066
SMART Domains Protein: ENSMUSP00000113233
Gene: ENSMUSG00000067825

DomainStartEndE-ValueType
Pfam:Pex26 1 304 3.3e-170 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125633
SMART Domains Protein: ENSMUSP00000117444
Gene: ENSMUSG00000067825

DomainStartEndE-ValueType
Pfam:Pex26 1 305 1.7e-172 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205150
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the peroxin-26 family. The encoded protein is probably required for protein import into peroxisomes. It may anchor Pex1 and Pex6 to peroxisome membranes. Defects in a similar gene in human are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 C T 8: 123,506,853 (GRCm39) R49C possibly damaging Het
Alg2 T C 4: 47,474,249 (GRCm39) Y13C probably benign Het
Apoa4 A G 9: 46,154,218 (GRCm39) D273G probably damaging Het
Axl C T 7: 25,458,194 (GRCm39) V854I probably damaging Het
Bicral A G 17: 47,122,873 (GRCm39) S673P probably benign Het
Camkk2 A G 5: 122,902,190 (GRCm39) S40P probably damaging Het
Ccdc39 A G 3: 33,871,107 (GRCm39) probably benign Het
Ccdc87 A G 19: 4,891,059 (GRCm39) E517G probably damaging Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Cdk5rap3 A T 11: 96,804,291 (GRCm39) C21S probably damaging Het
Chml G A 1: 175,519,900 (GRCm39) P68L possibly damaging Het
Cplane1 A G 15: 8,246,056 (GRCm39) E1476G probably benign Het
Cstdc6 A G 16: 36,143,388 (GRCm39) probably benign Het
Ephb3 T C 16: 21,033,139 (GRCm39) V41A probably damaging Het
Gm4781 T A 10: 100,232,752 (GRCm39) noncoding transcript Het
Hip1r A T 5: 124,137,953 (GRCm39) I760F probably damaging Het
Hyal5 T C 6: 24,891,614 (GRCm39) L476P probably benign Het
Isyna1 A G 8: 71,048,920 (GRCm39) N333S probably damaging Het
Kcnmb1 A T 11: 33,920,091 (GRCm39) probably benign Het
Mark4 T C 7: 19,160,314 (GRCm39) T649A probably benign Het
Mgat1 T C 11: 49,152,536 (GRCm39) F340L probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mmaa T G 8: 80,000,759 (GRCm39) Y233S probably damaging Het
Ntsr1 G T 2: 180,180,627 (GRCm39) probably null Het
Or2o1 T G 11: 49,051,602 (GRCm39) Y254D probably damaging Het
Orm2 T C 4: 63,281,229 (GRCm39) Y56H probably damaging Het
Pik3r4 C T 9: 105,521,677 (GRCm39) A81V probably benign Het
Pramel32 A G 4: 88,548,340 (GRCm39) S22P probably benign Het
Prr14l G T 5: 32,985,151 (GRCm39) T1448K probably benign Het
Ralgapa2 A T 2: 146,254,736 (GRCm39) Y799* probably null Het
Ryr1 A C 7: 28,778,121 (GRCm39) L2132R probably damaging Het
Sec23b T C 2: 144,421,325 (GRCm39) probably null Het
Sirt5 C T 13: 43,533,164 (GRCm39) T164I probably damaging Het
Slc9c1 T C 16: 45,376,977 (GRCm39) V429A probably benign Het
Spen T C 4: 141,244,441 (GRCm39) D198G unknown Het
Syne2 A G 12: 75,965,773 (GRCm39) N832D possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r191 T A 13: 22,363,068 (GRCm39) R229* probably null Het
Vps53 C T 11: 75,939,364 (GRCm39) D680N possibly damaging Het
Wbp1l G T 19: 46,642,749 (GRCm39) G234V probably benign Het
Wdfy3 A T 5: 102,070,475 (GRCm39) S1098T probably damaging Het
Yod1 T A 1: 130,646,688 (GRCm39) D188E probably damaging Het
Zbtb25 T C 12: 76,396,907 (GRCm39) D105G probably damaging Het
Other mutations in Pex26
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0314:Pex26 UTSW 6 121,161,443 (GRCm39) critical splice donor site probably null
R0682:Pex26 UTSW 6 121,161,363 (GRCm39) missense probably damaging 1.00
R4327:Pex26 UTSW 6 121,164,373 (GRCm39) missense probably damaging 1.00
R4388:Pex26 UTSW 6 121,161,351 (GRCm39) missense probably damaging 1.00
R4653:Pex26 UTSW 6 121,167,084 (GRCm39) missense probably damaging 1.00
R4796:Pex26 UTSW 6 121,170,516 (GRCm39) missense probably damaging 1.00
R5237:Pex26 UTSW 6 121,162,806 (GRCm39) missense probably damaging 1.00
R6655:Pex26 UTSW 6 121,167,170 (GRCm39) unclassified probably benign
R7653:Pex26 UTSW 6 121,170,510 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16