Incidental Mutation 'IGL03085:Pex11a'
ID 418055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex11a
Ensembl Gene ENSMUSG00000030545
Gene Name peroxisomal biogenesis factor 11 alpha
Synonyms PEX11alpha
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # IGL03085
Quality Score
Status
Chromosome 7
Chromosomal Location 79385705-79392879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79387523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
Ref Sequence ENSEMBL: ENSMUSP00000032761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032761] [ENSMUST00000032762] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]
AlphaFold Q9Z211
Predicted Effect probably damaging
Transcript: ENSMUST00000032761
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032761
Gene: ENSMUSG00000030545
AA Change: L103P

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 noncoding transcript
Transcript: ENSMUST00000206822
Predicted Effect probably benign
Transcript: ENSMUST00000205915
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 64,208,881 (GRCm39) H230Q probably benign Het
Aagab T A 9: 63,546,316 (GRCm39) probably benign Het
Actl11 G T 9: 107,806,749 (GRCm39) K357N probably damaging Het
Aktip A G 8: 91,852,651 (GRCm39) probably null Het
Amtn A G 5: 88,529,501 (GRCm39) probably benign Het
Arhgap21 T A 2: 20,919,532 (GRCm39) M58L probably benign Het
Art2b T A 7: 101,229,785 (GRCm39) Y38F probably damaging Het
Asb10 T C 5: 24,744,601 (GRCm39) probably benign Het
Atm A T 9: 53,395,471 (GRCm39) D1699E possibly damaging Het
Azi2 A C 9: 117,888,214 (GRCm39) K259T probably damaging Het
Bcas3 A G 11: 85,367,609 (GRCm39) D77G probably damaging Het
Birc6 G A 17: 74,903,945 (GRCm39) R1246H probably damaging Het
Cdh13 C A 8: 120,015,463 (GRCm39) D559E probably damaging Het
Chrm3 C T 13: 9,927,570 (GRCm39) A489T probably damaging Het
Ckap2l A T 2: 129,126,967 (GRCm39) Y404N probably benign Het
Col18a1 A G 10: 76,895,015 (GRCm39) probably benign Het
Col4a1 T A 8: 11,272,198 (GRCm39) K731* probably null Het
Corin A T 5: 72,511,273 (GRCm39) C360S probably damaging Het
Cyp1a1 A C 9: 57,608,995 (GRCm39) H292P possibly damaging Het
Dennd5b A G 6: 148,928,893 (GRCm39) V760A probably damaging Het
Dhx57 T C 17: 80,565,526 (GRCm39) D842G possibly damaging Het
Emp2 C A 16: 10,105,910 (GRCm39) probably benign Het
Eral1 G A 11: 77,969,093 (GRCm39) R136C probably damaging Het
Fat2 T A 11: 55,174,072 (GRCm39) M2214L probably benign Het
Flnb G A 14: 7,882,211 (GRCm38) R304H probably benign Het
G6pd2 A T 5: 61,967,645 (GRCm39) E473D probably benign Het
Gpx8 A G 13: 113,179,795 (GRCm39) Y169H probably damaging Het
Ighv1-64 A G 12: 115,471,461 (GRCm39) S19P possibly damaging Het
Ikbkb G T 8: 23,172,802 (GRCm39) N139K probably benign Het
Inpp5b A T 4: 124,686,115 (GRCm39) T720S probably benign Het
Kmt2d C A 15: 98,737,821 (GRCm39) probably benign Het
Lrig2 G A 3: 104,374,575 (GRCm39) P169S probably damaging Het
Magi3 T A 3: 103,922,655 (GRCm39) K1354I possibly damaging Het
Mapk9 A T 11: 49,757,865 (GRCm39) D103V probably damaging Het
Mrpl46 A T 7: 78,431,333 (GRCm39) I75N probably damaging Het
Or3a1c T A 11: 74,046,511 (GRCm39) I177N probably damaging Het
Or8b41 A G 9: 38,054,479 (GRCm39) E16G probably damaging Het
Or8d2b G A 9: 38,788,959 (GRCm39) M162I probably benign Het
Otog G T 7: 45,955,346 (GRCm39) probably null Het
Pnpla8 A G 12: 44,358,305 (GRCm39) T687A probably benign Het
Ppm1d A G 11: 85,227,989 (GRCm39) I302V probably null Het
Prdm11 C A 2: 92,805,304 (GRCm39) V549F possibly damaging Het
Prss54 G A 8: 96,292,258 (GRCm39) P107L probably benign Het
Rasa3 T A 8: 13,635,690 (GRCm39) N422I probably benign Het
Rbm27 T C 18: 42,460,589 (GRCm39) probably benign Het
Rpl13-ps3 A T 14: 59,131,156 (GRCm39) noncoding transcript Het
Rps6ka2 G A 17: 7,562,679 (GRCm39) probably null Het
Sphkap T A 1: 83,258,075 (GRCm39) I223F possibly damaging Het
Srm T C 4: 148,677,838 (GRCm39) F159L probably damaging Het
Stt3a A G 9: 36,644,266 (GRCm39) probably benign Het
Tacr3 T C 3: 134,638,027 (GRCm39) S395P possibly damaging Het
Tecpr2 A G 12: 110,921,260 (GRCm39) probably benign Het
Tmub1 C T 5: 24,651,096 (GRCm39) G188S probably damaging Het
Trim66 T A 7: 109,057,952 (GRCm39) I877F probably benign Het
Ubr5 T C 15: 38,029,812 (GRCm39) E471G probably damaging Het
Vmn1r218 A T 13: 23,321,481 (GRCm39) Y196F possibly damaging Het
Vmn2r89 T A 14: 51,689,615 (GRCm39) D39E probably damaging Het
Wee1 C A 7: 109,723,805 (GRCm39) P240Q probably damaging Het
Zc3h12a A T 4: 125,020,813 (GRCm39) V10D probably benign Het
Zzef1 T C 11: 72,746,350 (GRCm39) probably benign Het
Other mutations in Pex11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02448:Pex11a APN 7 79,387,208 (GRCm39) splice site probably null
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
R6718:Pex11a UTSW 7 79,387,230 (GRCm39) missense probably benign 0.00
R7418:Pex11a UTSW 7 79,392,735 (GRCm39) unclassified probably benign
Posted On 2016-08-02