Incidental Mutation 'IGL02272:Pex11g'
ID 287186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex11g
Ensembl Gene ENSMUSG00000069633
Gene Name peroxisomal biogenesis factor 11 gamma
Synonyms Pex11c, Pex11gamma, 1810022F11Rik, 1810049N02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02272
Quality Score
Chromosome 8
Chromosomal Location 3507105-3517648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3515898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 45 (V45A)
Ref Sequence ENSEMBL: ENSMUSP00000004686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004686] [ENSMUST00000047265] [ENSMUST00000111081] [ENSMUST00000159076]
AlphaFold Q6P6M5
Predicted Effect probably benign
Transcript: ENSMUST00000004686
AA Change: V45A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004686
Gene: ENSMUSG00000069633
AA Change: V45A

Pfam:PEX11 4 230 4.5e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047265
SMART Domains Protein: ENSMUSP00000043586
Gene: ENSMUSG00000040340

Pfam:DUF4601 58 499 7.4e-238 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111081
SMART Domains Protein: ENSMUSP00000106710
Gene: ENSMUSG00000069633

Pfam:PEX11 1 151 4.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118194
SMART Domains Protein: ENSMUSP00000113294
Gene: ENSMUSG00000069633

Pfam:PEX11 4 144 3.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159076
SMART Domains Protein: ENSMUSP00000123746
Gene: ENSMUSG00000040340

Pfam:DUF4601 58 339 1.3e-144 PFAM
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 is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign Het
Other mutations in Pex11g
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3947:Pex11g UTSW 8 3,515,787 (GRCm39) missense probably benign 0.21
R4597:Pex11g UTSW 8 3,514,043 (GRCm39) missense probably damaging 1.00
R4610:Pex11g UTSW 8 3,515,899 (GRCm39) missense probably benign 0.03
R4898:Pex11g UTSW 8 3,514,042 (GRCm39) missense probably damaging 1.00
R5576:Pex11g UTSW 8 3,515,875 (GRCm39) missense probably damaging 1.00
R6317:Pex11g UTSW 8 3,514,092 (GRCm39) missense probably damaging 1.00
R7195:Pex11g UTSW 8 3,509,237 (GRCm39) missense probably benign 0.00
R8802:Pex11g UTSW 8 3,507,308 (GRCm39) missense unknown
R9345:Pex11g UTSW 8 3,509,363 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16