Incidental Mutation 'R0682:Pex26'
ID 61006
Institutional Source Beutler Lab
Gene Symbol Pex26
Ensembl Gene ENSMUSG00000067825
Gene Name peroxisomal biogenesis factor 26
Synonyms 4632428M11Rik, peroxisome biogenesis factor 26
MMRRC Submission 038867-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0682 (G1)
Quality Score 137
Status Not validated
Chromosome 6
Chromosomal Location 121160626-121175796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121161363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 47 (V47E)
Ref Sequence ENSEMBL: ENSMUSP00000119048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088561] [ENSMUST00000118234] [ENSMUST00000120066] [ENSMUST00000125633] [ENSMUST00000137432]
AlphaFold Q8BGI5
Predicted Effect probably damaging
Transcript: ENSMUST00000088561
AA Change: V47E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085921
Gene: ENSMUSG00000067825
AA Change: V47E

DomainStartEndE-ValueType
Pfam:Pex26 1 302 9.2e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118234
AA Change: V47E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113981
Gene: ENSMUSG00000067825
AA Change: V47E

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: V47E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113233
Gene: ENSMUSG00000067825
AA Change: V47E

DomainStartEndE-ValueType
Pfam:Pex26 1 304 3.3e-170 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125633
AA Change: V47E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117444
Gene: ENSMUSG00000067825
AA Change: V47E

DomainStartEndE-ValueType
Pfam:Pex26 1 305 1.7e-172 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137432
AA Change: V47E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119048
Gene: ENSMUSG00000067825
AA Change: V47E

DomainStartEndE-ValueType
Pfam:Pex26 1 181 1.1e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139393
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,121,650 (GRCm39) H83R probably benign Het
Abcd3 A C 3: 121,563,216 (GRCm39) I471S possibly damaging Het
Abcg1 G A 17: 31,330,225 (GRCm39) V509I probably benign Het
Adamts9 A T 6: 92,880,783 (GRCm39) N497K possibly damaging Het
Agap2 A G 10: 126,919,351 (GRCm39) S479G unknown Het
Asic2 T C 11: 80,777,506 (GRCm39) I402V possibly damaging Het
Atp1a2 G A 1: 172,112,164 (GRCm39) T577I probably benign Het
Atraid T A 5: 31,209,612 (GRCm39) I92K probably damaging Het
Dpp10 C A 1: 123,832,852 (GRCm39) A31S probably damaging Het
Erich6 A T 3: 58,544,232 (GRCm39) F118L probably benign Het
Galnt18 T C 7: 111,119,222 (GRCm39) Y418C probably damaging Het
Herc1 T A 9: 66,389,263 (GRCm39) C3927S possibly damaging Het
Ifit2 G A 19: 34,551,012 (GRCm39) R184H probably benign Het
Kif24 A T 4: 41,428,620 (GRCm39) N113K probably benign Het
Lrp1b T A 2: 41,185,653 (GRCm39) Y1354F probably benign Het
Muc1 T A 3: 89,138,439 (GRCm39) I427N probably damaging Het
Muc5ac A G 7: 141,359,406 (GRCm39) T1288A possibly damaging Het
Or7g32 C A 9: 19,388,645 (GRCm39) M300I probably benign Het
Or9i14 C T 19: 13,792,501 (GRCm39) C151Y possibly damaging Het
Plekhm2 T C 4: 141,355,436 (GRCm39) I871V probably damaging Het
Rasal2 A G 1: 157,006,779 (GRCm39) S111P probably damaging Het
Rnf133 A T 6: 23,649,569 (GRCm39) I163N probably damaging Het
Rrp8 A C 7: 105,383,218 (GRCm39) D349E probably damaging Het
Sdhd G T 9: 50,511,905 (GRCm39) Q38K probably benign Het
Ssh1 C T 5: 114,098,718 (GRCm39) S117N probably damaging Het
Tbc1d2b A G 9: 90,131,915 (GRCm39) M148T probably benign Het
Tnni3k A G 3: 154,645,665 (GRCm39) S470P probably damaging Het
Tnr C T 1: 159,679,877 (GRCm39) Q284* probably null Het
Trim30a A C 7: 104,078,389 (GRCm39) V229G probably damaging Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Uck2 T C 1: 167,064,259 (GRCm39) D90G probably damaging Het
Vmn1r229 A T 17: 21,034,950 (GRCm39) E65V probably benign Het
Vmn2r26 A G 6: 124,038,129 (GRCm39) E568G probably damaging Het
Whamm A G 7: 81,235,886 (GRCm39) E363G probably damaging Het
Wrap53 A G 11: 69,453,272 (GRCm39) S390P probably damaging Het
Wrn A G 8: 33,757,848 (GRCm39) S814P probably benign Het
Zfp329 A G 7: 12,544,211 (GRCm39) C438R probably damaging Het
Zkscan8 T C 13: 21,710,930 (GRCm39) Y60C probably 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
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
Predicted Primers PCR Primer
(F):5'- AGTCCGAATTTCCAGGAAGCTCCC -3'
(R):5'- GATGAGCAACCAGCCTCTCTCAAAG -3'

Sequencing Primer
(F):5'- AAGCTCCCGAGAAGCTGTC -3'
(R):5'- CTTAGGGAAAGCAAGGTGTGTG -3'
Posted On 2013-07-30