Incidental Mutation 'R3739:Pex11a'
Institutional Source Beutler Lab
Gene Symbol Pex11a
Ensembl Gene ENSMUSG00000030545
Gene Nameperoxisomal biogenesis factor 11 alpha
MMRRC Submission 040725-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.273) question?
Stock #R3739 (G1)
Quality Score225
Status Validated
Chromosomal Location79735957-79743131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79740170 bp
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]
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

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

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 0.316 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: 49,019,281 L775* probably null Het
Abcb8 A G 5: 24,400,621 S168G probably benign Het
Ahnak2 T C 12: 112,774,558 I1027V probably benign Het
Alox12e A G 11: 70,319,842 L318P probably damaging Het
Ankrd11 A G 8: 122,896,715 probably benign Het
Anks1b T A 10: 90,033,216 I46N probably damaging Het
Apoa5 G C 9: 46,269,117 W7S probably damaging Het
Arnt2 T C 7: 84,343,801 H177R probably null Het
Cacna1c T C 6: 118,741,952 D220G probably benign Het
Dst C T 1: 34,268,894 probably benign Het
Eml6 C A 11: 29,803,137 V925L probably benign Het
Fbll1 G A 11: 35,797,678 H253Y possibly damaging Het
Galnt1 A G 18: 24,271,655 T350A probably benign Het
Gbp10 T A 5: 105,224,458 E145D possibly damaging Het
Gfm1 T C 3: 67,456,700 I503T probably damaging Het
Hmcn2 A T 2: 31,336,612 K200* probably null Het
Ifi203 T A 1: 173,929,474 probably benign Het
Itgbl1 T C 14: 123,966,678 F394L probably damaging Het
Itpkc T A 7: 27,227,604 D295V possibly damaging Het
Klra17 T A 6: 129,873,365 I41F probably benign Het
Lcorl A T 5: 45,734,041 N323K possibly damaging Het
Ltbp2 A T 12: 84,804,474 C836S probably damaging Het
Mfsd2b A G 12: 4,870,578 S80P probably damaging Het
Ms4a18 A T 19: 11,011,499 H164Q probably damaging Het
Mybbp1a A G 11: 72,448,737 H882R possibly damaging Het
Myh9 G A 15: 77,766,812 R1612C probably damaging Het
Myo18a A G 11: 77,845,615 D1514G probably damaging Het
Nsun2 T C 13: 69,629,638 I441T probably benign Het
Ntng1 A T 3: 109,934,691 D255E probably damaging Het
Olfr1385 A G 11: 49,495,460 D309G possibly damaging Het
Osbpl2 G A 2: 180,161,560 R475H probably damaging Het
Pclo A C 5: 14,680,899 K3138N unknown Het
Pcsk7 A G 9: 45,926,759 T572A possibly damaging Het
Pnmal2 C T 7: 16,946,596 H502Y probably benign Het
Saa4 T A 7: 46,729,629 N96Y possibly damaging Het
Serpinb6d T A 13: 33,667,680 V140E probably damaging Het
Srsf4 C T 4: 131,900,102 probably benign Het
St18 G A 1: 6,855,473 probably null Het
Taf3 T C 2: 9,951,658 E566G possibly damaging Het
Tnr T C 1: 159,923,413 S1315P possibly damaging Het
Trappc11 T C 8: 47,514,103 E412G probably damaging Het
Trpc2 G A 7: 102,084,504 S220N probably damaging Het
Trpm7 A G 2: 126,851,521 V48A probably damaging Het
Tubb6 A G 18: 67,402,051 Y340C probably damaging Het
Vmn1r197 C A 13: 22,328,576 Y222* probably null Het
Vmn2r97 T C 17: 18,928,151 S103P probably damaging Het
Zfp362 C G 4: 128,786,889 probably benign Het
Zfp423 A G 8: 87,781,344 C666R probably damaging Het
Other mutations in Pex11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02448:Pex11a APN 7 79737460 unclassified probably null
IGL03085:Pex11a APN 7 79737775 missense probably damaging 1.00
R6164:Pex11a UTSW 7 79737379 missense probably damaging 1.00
R6718:Pex11a UTSW 7 79737482 missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-03-18