Incidental Mutation 'R6718:Pex11a'
ID 529461
Institutional Source Beutler Lab
Gene Symbol Pex11a
Ensembl Gene ENSMUSG00000030545
Gene Name peroxisomal biogenesis factor 11 alpha
Synonyms PEX11alpha
MMRRC Submission 044836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R6718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79385705-79392879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79387230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 201 (F201L)
Ref Sequence ENSEMBL: ENSMUSP00000032761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032761] [ENSMUST00000032762] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]
AlphaFold Q9Z211
Predicted Effect probably benign
Transcript: ENSMUST00000032761
AA Change: F201L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032761
Gene: ENSMUSG00000030545
AA Change: F201L

DomainStartEndE-ValueType
Pfam:PEX11 1 237 4.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032762
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546

DomainStartEndE-ValueType
Pfam:Perilipin 14 399 7.5e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205297
Predicted Effect probably benign
Transcript: ENSMUST00000205413
Predicted Effect probably benign
Transcript: ENSMUST00000205747
Predicted Effect probably benign
Transcript: ENSMUST00000205915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206822
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit minor abnormalities of the mitochondria and peroxisomes. Mice homozygous for a different knock-out allele exhibit increased body weight, hepatic steatosis and fewer, smaller peroxisomes in hepatocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,554,346 (GRCm39) T452I probably damaging Het
Asb8 A G 15: 98,034,015 (GRCm39) I180T probably benign Het
Cdh18 A G 15: 23,226,835 (GRCm39) T45A probably benign Het
Col12a1 T A 9: 79,606,887 (GRCm39) Y512F probably damaging Het
Col6a1 A G 10: 76,560,884 (GRCm39) F38S probably damaging Het
Hoxc5 A G 15: 102,922,698 (GRCm39) probably null Het
Kmt2d TATGCTGCTG TATGCTGCTGATGCTGCTG 15: 98,747,467 (GRCm39) probably benign Het
Kmt2d C T 15: 98,748,420 (GRCm39) probably benign Het
Lrp2 G T 2: 69,314,124 (GRCm39) H2202Q probably benign Het
Maf C A 8: 116,433,539 (GRCm39) V22F unknown Het
Mrgpra3 C T 7: 47,239,444 (GRCm39) V161M probably benign Het
Or7g33 G T 9: 19,448,495 (GRCm39) H244N probably damaging Het
Otx1 T C 11: 21,946,412 (GRCm39) probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pigu A G 2: 155,143,206 (GRCm39) Y232H possibly damaging Het
Pms2 T C 5: 143,860,307 (GRCm39) I40T probably damaging Het
Pura A G 18: 36,420,696 (GRCm39) N161S probably damaging Het
Ranbp10 A G 8: 106,501,260 (GRCm39) V330A possibly damaging Het
Slc30a9 T C 5: 67,490,443 (GRCm39) V218A probably damaging Het
Spindoc C T 19: 7,335,781 (GRCm39) V336I probably damaging Het
Tmprss9 A G 10: 80,726,198 (GRCm39) T483A probably benign Het
Other mutations in Pex11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02448:Pex11a APN 7 79,387,208 (GRCm39) splice site probably null
IGL03085:Pex11a APN 7 79,387,523 (GRCm39) missense probably damaging 1.00
R3739:Pex11a UTSW 7 79,389,918 (GRCm39) missense possibly damaging 0.79
R6164:Pex11a UTSW 7 79,387,127 (GRCm39) missense probably damaging 1.00
R7418:Pex11a UTSW 7 79,392,735 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACTGCTAGCCTTAAAGCCTCC -3'
(R):5'- CGGCTCGCCATTACTACTAC -3'

Sequencing Primer
(F):5'- GCTAGCCTTAAAGCCTCCAAACAC -3'
(R):5'- ATGAGATCTTGCTGCAGATGGGAC -3'
Posted On 2018-08-01