Incidental Mutation 'IGL02319:Pex11b'
ID 288183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex11b
Ensembl Gene ENSMUSG00000028102
Gene Name peroxisomal biogenesis factor 11 beta
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02319
Quality Score
Status
Chromosome 3
Chromosomal Location 96542692-96552682 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 96550885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029744] [ENSMUST00000048766] [ENSMUST00000118557] [ENSMUST00000119365] [ENSMUST00000137564] [ENSMUST00000165842] [ENSMUST00000156015]
AlphaFold Q9Z210
Predicted Effect probably benign
Transcript: ENSMUST00000029744
SMART Domains Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Int_alpha 37 93 9.03e-3 SMART
VWA 165 355 9.6e-43 SMART
Int_alpha 427 481 2.01e0 SMART
Int_alpha 482 539 5.14e-7 SMART
Int_alpha 545 600 5.34e-14 SMART
Int_alpha 607 652 8.75e0 SMART
transmembrane domain 1123 1145 N/A INTRINSIC
low complexity region 1153 1166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048766
SMART Domains Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 1 251 1.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118557
SMART Domains Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 1 251 8.3e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119365
SMART Domains Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Int_alpha 37 93 9.03e-3 SMART
VWA 165 355 9.6e-43 SMART
Int_alpha 427 481 2.01e0 SMART
Int_alpha 482 539 5.14e-7 SMART
Int_alpha 545 600 5.34e-14 SMART
Int_alpha 607 652 8.75e0 SMART
transmembrane domain 1122 1144 N/A INTRINSIC
low complexity region 1152 1165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137564
SMART Domains Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447

DomainStartEndE-ValueType
Pfam:PEX11 1 172 4.5e-57 PFAM
low complexity region 186 204 N/A INTRINSIC
Int_alpha 222 278 9.03e-3 SMART
Blast:VWA 292 345 3e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144962
Predicted Effect probably benign
Transcript: ENSMUST00000165842
SMART Domains Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 3 237 8.9e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147821
Predicted Effect probably benign
Transcript: ENSMUST00000156015
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first day of life. Various abnormalities develop as a result of peroxisomal abnormalities. The condition is similar to Zellweger Syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,784,611 (GRCm39) Y537C probably damaging Het
Ambra1 A G 2: 91,717,265 (GRCm39) H854R probably damaging Het
Atf7ip A G 6: 136,570,116 (GRCm39) N981S probably benign Het
Atp6v1d A G 12: 78,908,230 (GRCm39) S2P probably damaging Het
Cd59a A T 2: 103,944,373 (GRCm39) I74F possibly damaging Het
Chek2 T C 5: 111,014,877 (GRCm39) Y449H possibly damaging Het
Ctif C T 18: 75,654,944 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,526,946 (GRCm39) E403G probably damaging Het
Dock1 T G 7: 134,374,178 (GRCm39) V608G possibly damaging Het
Fcf1 T C 12: 85,017,982 (GRCm39) probably null Het
Fgf17 T G 14: 70,874,183 (GRCm39) Q202P possibly damaging Het
Hnrnpm A T 17: 33,868,924 (GRCm39) L501Q probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Klra6 A T 6: 130,002,177 (GRCm39) S2R probably damaging Het
Krtap19-9b T A 16: 88,729,002 (GRCm39) Y33F unknown Het
Lpcat4 G A 2: 112,074,229 (GRCm39) V264M probably damaging Het
Lyzl6 T C 11: 103,525,862 (GRCm39) Y86C probably damaging Het
Myo18b T C 5: 112,939,005 (GRCm39) K1669E probably damaging Het
Nbea A G 3: 55,893,159 (GRCm39) V1558A probably damaging Het
Or51a42 A G 7: 103,708,140 (GRCm39) I223T probably damaging Het
Or51l14 G A 7: 103,101,474 (GRCm39) C310Y probably benign Het
Or5b105 A G 19: 13,080,026 (GRCm39) I214T probably benign Het
Or8b47 T A 9: 38,435,166 (GRCm39) I46N probably damaging Het
Rbm5 A T 9: 107,621,064 (GRCm39) L689* probably null Het
Rd3 G T 1: 191,715,452 (GRCm39) G76C probably null Het
Rgs16 A T 1: 153,617,852 (GRCm39) I121F probably damaging Het
Tmem30a A T 9: 79,681,485 (GRCm39) M264K probably damaging Het
Traf2 T C 2: 25,426,695 (GRCm39) E127G probably damaging Het
Trmt11 A T 10: 30,436,869 (GRCm39) D290E probably damaging Het
Wdr35 C A 12: 9,077,480 (GRCm39) probably benign Het
Wnk2 A G 13: 49,214,914 (GRCm39) S1211P possibly damaging Het
Other mutations in Pex11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01874:Pex11b APN 3 96,550,883 (GRCm39) splice site probably null
R2061:Pex11b UTSW 3 96,543,037 (GRCm39) missense possibly damaging 0.64
R4569:Pex11b UTSW 3 96,551,330 (GRCm39) utr 3 prime probably benign
R4664:Pex11b UTSW 3 96,551,151 (GRCm39) missense possibly damaging 0.82
R4665:Pex11b UTSW 3 96,551,151 (GRCm39) missense possibly damaging 0.82
R5359:Pex11b UTSW 3 96,551,229 (GRCm39) missense probably damaging 1.00
R7367:Pex11b UTSW 3 96,543,994 (GRCm39) missense probably damaging 1.00
R7617:Pex11b UTSW 3 96,544,107 (GRCm39) critical splice donor site probably null
R8176:Pex11b UTSW 3 96,551,027 (GRCm39) missense probably benign 0.00
R9136:Pex11b UTSW 3 96,551,259 (GRCm39) missense probably damaging 1.00
X0024:Pex11b UTSW 3 96,544,006 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16