Incidental Mutation 'R4327:Pex26'
ID 324415
Institutional Source Beutler Lab
Gene Symbol Pex26
Ensembl Gene ENSMUSG00000067825
Gene Name peroxisomal biogenesis factor 26
Synonyms 4632428M11Rik, peroxisome biogenesis factor 26
MMRRC Submission 041097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4327 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 121160626-121175796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121164373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 172 (E172V)
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: E172V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085921
Gene: ENSMUSG00000067825
AA Change: E172V

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 damaging
Transcript: ENSMUST00000120066
AA Change: E172V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113233
Gene: ENSMUSG00000067825
AA Change: E172V

DomainStartEndE-ValueType
Pfam:Pex26 1 304 3.3e-170 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125633
AA Change: E172V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117444
Gene: ENSMUSG00000067825
AA Change: E172V

DomainStartEndE-ValueType
Pfam:Pex26 1 305 1.7e-172 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137432
AA Change: E172V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119048
Gene: ENSMUSG00000067825
AA Change: E172V

DomainStartEndE-ValueType
Pfam:Pex26 1 181 1.1e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139393
Meta Mutation Damage Score 0.6589 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,221,664 (GRCm39) D55G possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Arhgef12 C A 9: 42,886,525 (GRCm39) E1152* probably null Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atp1a3 A G 7: 24,687,056 (GRCm39) probably benign Het
Bcl2l1 A G 2: 152,624,099 (GRCm39) V223A probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cela3b G T 4: 137,151,242 (GRCm39) A137E probably benign Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Col16a1 T C 4: 129,988,344 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,299 (GRCm39) probably benign Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Hmgxb3 A T 18: 61,300,611 (GRCm39) M155K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kcnn1 A T 8: 71,305,307 (GRCm39) V301E probably damaging Het
Kcnq4 T C 4: 120,568,561 (GRCm39) E385G probably benign Het
Klhl28 G A 12: 64,996,952 (GRCm39) A463V probably damaging Het
Lhb A G 7: 45,070,383 (GRCm39) R3G possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Muc2 A C 7: 141,281,577 (GRCm39) S479R probably damaging Het
Or11g27 T A 14: 50,770,971 (GRCm39) I34N probably benign Het
Or12e10 G T 2: 87,640,496 (GRCm39) V111L probably benign Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or52n1 G A 7: 104,382,833 (GRCm39) T246I probably damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pitrm1 A G 13: 6,629,809 (GRCm39) probably benign Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Scn7a A G 2: 66,567,815 (GRCm39) F260L probably damaging Het
Serpinb3a T A 1: 106,979,500 (GRCm39) M1L probably damaging Het
Sh3d19 T C 3: 86,031,020 (GRCm39) I728T probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tiam1 A G 16: 89,652,779 (GRCm39) V781A possibly damaging Het
Tigd2 C A 6: 59,187,562 (GRCm39) T143K probably benign Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem161b G A 13: 84,399,359 (GRCm39) G5D probably damaging Het
Tonsl G A 15: 76,523,916 (GRCm39) A28V probably benign Het
Treml4 T C 17: 48,581,417 (GRCm39) Y222H probably damaging Het
Trp53bp1 A T 2: 121,087,131 (GRCm39) V175D probably damaging Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp286 A G 11: 62,670,844 (GRCm39) C410R probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTGTTTGGGGACACAGCATCC -3'
(R):5'- AGCTTAAGAAACTCAGCAGTGTC -3'

Sequencing Primer
(F):5'- GGGGACACAGCATCCTTTTATACAG -3'
(R):5'- ATGCCACGAGACTGCTTTG -3'
Posted On 2015-06-24