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, 1810049N02Rik, 1810022F11Rik, Pex11gamma
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02272
Quality Score
Status
Chromosome 8
Chromosomal Location 3457105-3467680 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3465898 bp (GRCm38)
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

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

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

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

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

DomainStartEndE-ValueType
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: 57,450,021 C759* probably null Het
Adgrg6 T A 10: 14,468,829 M127L probably damaging Het
AI314180 A T 4: 58,811,731 N1439K probably benign Het
Anxa9 A G 3: 95,305,894 V47A probably benign Het
Arhgef12 T A 9: 43,001,452 D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 probably benign Het
Ccdc169 A G 3: 55,150,748 E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 probably null Het
Cntnap1 G A 11: 101,178,316 V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 V852E probably damaging Het
Csmd1 A T 8: 16,199,893 S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 probably benign Het
Dusp6 T A 10: 99,266,019 V289D probably damaging Het
Epha6 C T 16: 59,818,937 R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 V152E probably benign Het
Hmces A G 6: 87,917,855 probably null Het
Hsph1 A G 5: 149,617,530 S852P probably benign Het
Kat6b A C 14: 21,626,778 K394Q probably damaging Het
Kdr G A 5: 75,961,840 T475I probably benign Het
Klhl25 A G 7: 75,866,620 T425A probably benign Het
Klk1b8 T A 7: 43,952,793 C50S probably damaging Het
Kri1 T C 9: 21,276,168 Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 S953P probably benign Het
Lpin1 A G 12: 16,547,600 V681A probably damaging Het
Lpin3 A G 2: 160,901,661 T508A probably benign Het
Moxd1 T A 10: 24,282,700 Y417* probably null Het
Mthfd1l T G 10: 4,041,812 I588S probably damaging Het
Myo5c C A 9: 75,266,160 N543K possibly damaging Het
Myo9a T A 9: 59,884,600 probably benign Het
Nme8 T C 13: 19,658,826 Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 N249T probably damaging Het
Pkhd1 C A 1: 20,209,260 G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 V353A probably damaging Het
Prss16 T A 13: 22,003,035 Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 V524E probably damaging Het
Rap1gap A G 4: 137,716,566 Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 L598F probably damaging Het
Sardh T G 2: 27,224,991 D550A probably benign Het
Serpinc1 T G 1: 160,999,992 I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 T196S probably damaging Het
Slc25a46 T C 18: 31,583,568 T294A probably benign Het
Srrm2 T C 17: 23,815,782 probably benign Het
Steap2 T A 5: 5,677,612 N241I probably benign Het
Tcaf3 T C 6: 42,596,660 Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 Q52K possibly damaging Het
Ttn A G 2: 76,735,028 V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 S99R probably benign Het
Ubxn2b A T 4: 6,216,071 K331N probably damaging Het
Usp50 G A 2: 126,769,944 T232I probably damaging Het
Vmn2r116 G A 17: 23,385,999 M95I probably benign Het
Vmn2r116 T A 17: 23,386,004 L97Q probably damaging Het
Vmn2r24 A T 6: 123,786,884 N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 R383G probably benign Het
Other mutations in Pex11g
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3947:Pex11g UTSW 8 3465787 missense probably benign 0.21
R4597:Pex11g UTSW 8 3464043 missense probably damaging 1.00
R4610:Pex11g UTSW 8 3465899 missense probably benign 0.03
R4898:Pex11g UTSW 8 3464042 missense probably damaging 1.00
R5576:Pex11g UTSW 8 3465875 missense probably damaging 1.00
R6317:Pex11g UTSW 8 3464092 missense probably damaging 1.00
R7195:Pex11g UTSW 8 3459237 missense probably benign 0.00
R8802:Pex11g UTSW 8 3457308 missense unknown
R9345:Pex11g UTSW 8 3459363 missense possibly damaging 0.80
Posted On 2015-04-16