Incidental Mutation 'R3739:Pex11a'
ID 270288
Institutional Source Beutler Lab
Gene Symbol Pex11a
Ensembl Gene ENSMUSG00000030545
Gene Name peroxisomal biogenesis factor 11 alpha
Synonyms PEX11alpha
MMRRC Submission 040725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R3739 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79385705-79392879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79389918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 56 (R56H)
Ref Sequence ENSEMBL: ENSMUSP00000032761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032761] [ENSMUST00000035622]
AlphaFold Q9Z211
Predicted Effect possibly damaging
Transcript: ENSMUST00000032761
AA Change: R56H

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032761
Gene: ENSMUSG00000030545
AA Change: R56H

DomainStartEndE-ValueType
Pfam:PEX11 1 237 4.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035622
SMART Domains Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099

DomainStartEndE-ValueType
low complexity region 240 251 N/A INTRINSIC
low complexity region 265 274 N/A INTRINSIC
SCOP:d1jofa_ 389 607 7e-4 SMART
Blast:WD40 413 451 2e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206822
Meta Mutation Damage Score 0.5668 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ahnak2 T C 12: 112,740,992 (GRCm39) I1027V probably benign Het
Alox12e A G 11: 70,210,668 (GRCm39) L318P probably damaging Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Anks1b T A 10: 89,869,078 (GRCm39) I46N probably damaging Het
Apoa5 G C 9: 46,180,415 (GRCm39) W7S probably damaging Het
Arnt2 T C 7: 83,993,009 (GRCm39) H177R probably null Het
Cacna1c T C 6: 118,718,913 (GRCm39) D220G probably benign Het
Dst C T 1: 34,307,975 (GRCm39) probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Galnt1 A G 18: 24,404,712 (GRCm39) T350A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gfm1 T C 3: 67,364,033 (GRCm39) I503T probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Itgbl1 T C 14: 124,204,090 (GRCm39) F394L probably damaging Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Klra17 T A 6: 129,850,328 (GRCm39) I41F probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ms4a18 A T 19: 10,988,863 (GRCm39) H164Q probably damaging Het
Mybbp1a A G 11: 72,339,563 (GRCm39) H882R possibly damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Myo18a A G 11: 77,736,441 (GRCm39) D1514G probably damaging Het
Nsun2 T C 13: 69,777,757 (GRCm39) I441T probably benign Het
Ntng1 A T 3: 109,842,007 (GRCm39) D255E probably damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Pclo A C 5: 14,730,913 (GRCm39) K3138N unknown Het
Pcsk7 A G 9: 45,838,057 (GRCm39) T572A possibly damaging Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Saa4 T A 7: 46,379,053 (GRCm39) N96Y possibly damaging Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Taf3 T C 2: 9,956,469 (GRCm39) E566G possibly damaging Het
Tnr T C 1: 159,750,983 (GRCm39) S1315P possibly damaging Het
Trappc11 T C 8: 47,967,138 (GRCm39) E412G probably damaging Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Trpm7 A G 2: 126,693,441 (GRCm39) V48A probably damaging Het
Tubb6 A G 18: 67,535,121 (GRCm39) Y340C probably damaging Het
Vmn1r197 C A 13: 22,512,746 (GRCm39) Y222* probably null Het
Vmn2r97 T C 17: 19,148,413 (GRCm39) S103P probably damaging Het
Zfp362 C G 4: 128,680,682 (GRCm39) probably benign Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging 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
R6164:Pex11a UTSW 7 79,387,127 (GRCm39) missense probably damaging 1.00
R6718:Pex11a UTSW 7 79,387,230 (GRCm39) missense probably benign 0.00
R7418:Pex11a UTSW 7 79,392,735 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AACCATTCGGCCTTCTTGG -3'
(R):5'- AAAGTTCCGCCTCAGCATG -3'

Sequencing Primer
(F):5'- CGGCCTTCTTGGGGTCTC -3'
(R):5'- CCATTTCAGAGCCACTCA -3'
Posted On 2015-03-18