Incidental Mutation 'R4653:Pex26'
ID 351469
Institutional Source Beutler Lab
Gene Symbol Pex26
Ensembl Gene ENSMUSG00000067825
Gene Name peroxisomal biogenesis factor 26
Synonyms 4632428M11Rik, peroxisome biogenesis factor 26
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121160626-121175796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121167084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 231 (S231L)
Ref Sequence ENSEMBL: ENSMUSP00000117444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088561] [ENSMUST00000118234] [ENSMUST00000120066] [ENSMUST00000125633] [ENSMUST00000137432]
AlphaFold Q8BGI5
Predicted Effect probably damaging
Transcript: ENSMUST00000088561
AA Change: S231L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000085921
Gene: ENSMUSG00000067825
AA Change: S231L

DomainStartEndE-ValueType
Pfam:Pex26 1 302 9.2e-141 PFAM
Predicted Effect silent
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 damaging
Transcript: ENSMUST00000120066
AA Change: S231L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113233
Gene: ENSMUSG00000067825
AA Change: S231L

DomainStartEndE-ValueType
Pfam:Pex26 1 304 3.3e-170 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125633
AA Change: S231L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117444
Gene: ENSMUSG00000067825
AA Change: S231L

DomainStartEndE-ValueType
Pfam:Pex26 1 305 1.7e-172 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137432
SMART Domains Protein: ENSMUSP00000119048
Gene: ENSMUSG00000067825

DomainStartEndE-ValueType
Pfam:Pex26 1 181 1.1e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139393
Meta Mutation Damage Score 0.6646 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging Het
Other mutations in Pex26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02321:Pex26 APN 6 121,170,468 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGACCTACCAGATCACATAGATCC -3'
(R):5'- AGGCTCAATGTCACAGGAGG -3'

Sequencing Primer
(F):5'- AGCATCTACAAGGCCGTG -3'
(R):5'- ACAGGAGGTGGCTCCCTC -3'
Posted On 2015-10-08