Incidental Mutation 'R4597:Pex11g'
ID 344448
Institutional Source Beutler Lab
Gene Symbol Pex11g
Ensembl Gene ENSMUSG00000069633
Gene Name peroxisomal biogenesis factor 11 gamma
Synonyms Pex11c, Pex11gamma, 1810022F11Rik, 1810049N02Rik
MMRRC Submission 041813-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4597 (G1)
Quality Score 212
Status Validated
Chromosome 8
Chromosomal Location 3507105-3517648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3514043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 40 (Y40H)
Ref Sequence ENSEMBL: ENSMUSP00000106710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004686] [ENSMUST00000111081]
AlphaFold Q6P6M5
Predicted Effect probably damaging
Transcript: ENSMUST00000004686
AA Change: Y103H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004686
Gene: ENSMUSG00000069633
AA Change: Y103H

DomainStartEndE-ValueType
Pfam:PEX11 4 230 4.5e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111081
AA Change: Y40H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106710
Gene: ENSMUSG00000069633
AA Change: Y40H

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 noncoding transcript
Transcript: ENSMUST00000207266
Meta Mutation Damage Score 0.8031 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (67/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik T A 2: 103,856,500 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,214 (GRCm39) M229K possibly damaging Het
Adh5 T C 3: 138,151,118 (GRCm39) V27A probably damaging Het
Ank2 A T 3: 126,781,800 (GRCm39) D843E probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arid2 A G 15: 96,268,737 (GRCm39) N950S probably damaging Het
Arl1 A T 10: 88,566,608 (GRCm39) probably benign Het
Bcl3 T G 7: 19,546,428 (GRCm39) I136L probably damaging Het
Car9 T A 4: 43,509,138 (GRCm39) S235R probably damaging Het
Carnmt1 G T 19: 18,648,451 (GRCm39) G30W probably damaging Het
Casp12 C T 9: 5,348,941 (GRCm39) T101I possibly damaging Het
Cdh23 A G 10: 60,244,823 (GRCm39) L1026P probably damaging Het
Clec10a A T 11: 70,060,806 (GRCm39) Y186F probably damaging Het
Col22a1 G T 15: 71,836,511 (GRCm39) A508E possibly damaging Het
Crocc G C 4: 140,747,088 (GRCm39) S1573R probably damaging Het
Cttnbp2nl G T 3: 104,913,191 (GRCm39) T231K possibly damaging Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Ehbp1l1 T C 19: 5,767,955 (GRCm39) E1116G possibly damaging Het
Fam83d T C 2: 158,627,142 (GRCm39) V277A possibly damaging Het
Fga G T 3: 82,938,542 (GRCm39) G306* probably null Het
Fkbp9 A G 6: 56,809,367 (GRCm39) Y59C probably damaging Het
Frmpd1 A G 4: 45,274,441 (GRCm39) T450A probably benign Het
Gabbr1 A G 17: 37,367,791 (GRCm39) M414V possibly damaging Het
Gm16506 A G 14: 43,962,572 (GRCm39) F112L unknown Het
Gm27047 T C 6: 130,607,299 (GRCm39) noncoding transcript Het
Gm4353 T A 7: 115,682,847 (GRCm39) K245* probably null Het
Gm4950 A T 18: 51,998,865 (GRCm39) I30N probably benign Het
H1f5 A T 13: 21,964,681 (GRCm39) V15E probably damaging Het
H2-M10.2 T C 17: 36,596,285 (GRCm39) T187A probably benign Het
H60c A T 10: 3,209,968 (GRCm39) N106K possibly damaging Het
Hoxa6 T C 6: 52,185,387 (GRCm39) probably null Het
Ighv1-74 A G 12: 115,766,276 (GRCm39) C115R probably damaging Het
Il17a G A 1: 20,801,217 (GRCm39) probably null Het
Itga9 T C 9: 118,672,582 (GRCm39) Y199H probably damaging Het
Itpr3 C T 17: 27,312,257 (GRCm39) R554C probably damaging Het
Kcnc3 T A 7: 44,245,240 (GRCm39) M510K probably damaging Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kif26b A T 1: 178,744,358 (GRCm39) S1485C probably damaging Het
Klhl2 C A 8: 65,207,421 (GRCm39) G313W probably damaging Het
Klhl32 C T 4: 24,629,339 (GRCm39) S476N probably benign Het
Krt1 C T 15: 101,756,063 (GRCm39) E386K possibly damaging Het
Lats1 T C 10: 7,567,510 (GRCm39) S94P probably benign Het
Ltf G A 9: 110,852,001 (GRCm39) C146Y probably damaging Het
Mars1 A G 10: 127,136,322 (GRCm39) L501P probably damaging Het
Myh2 A C 11: 67,080,244 (GRCm39) I1153L probably benign Het
Ncstn A T 1: 171,895,823 (GRCm39) Y522* probably null Het
Nipal4 A G 11: 46,042,156 (GRCm39) V175A probably damaging Het
Or7e169 T C 9: 19,756,987 (GRCm39) I309M probably benign Het
Pcdha1 C G 18: 37,064,959 (GRCm39) A541G possibly damaging Het
Pira13 T A 7: 3,825,154 (GRCm39) Y496F possibly damaging Het
Qrfprl T C 6: 65,424,408 (GRCm39) probably null Het
Rin2 G T 2: 145,702,825 (GRCm39) R507L probably benign Het
Sh2b2 T C 5: 136,260,616 (GRCm39) D200G probably damaging Het
Smg7 C A 1: 152,716,052 (GRCm39) probably null Het
Snx17 T C 5: 31,355,857 (GRCm39) probably benign Het
Sos1 T C 17: 80,741,255 (GRCm39) Y510C probably benign Het
Spata31d1c T A 13: 65,183,427 (GRCm39) L323* probably null Het
Supt16 C T 14: 52,411,046 (GRCm39) G686D probably damaging Het
Szt2 C T 4: 118,229,878 (GRCm39) R2751H unknown Het
Tnfsf8 A G 4: 63,755,337 (GRCm39) L95P probably damaging Het
Vmn2r17 A G 5: 109,577,428 (GRCm39) H493R probably benign Het
Zfp770 C T 2: 114,027,251 (GRCm39) A273T possibly damaging Het
Other mutations in Pex11g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Pex11g APN 8 3,515,898 (GRCm39) missense probably benign 0.34
R3947:Pex11g UTSW 8 3,515,787 (GRCm39) missense probably benign 0.21
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
Predicted Primers PCR Primer
(F):5'- AACAGCCATTGGGGACTTCAG -3'
(R):5'- AAGCCAGGCCTAGCTCTTTTC -3'

Sequencing Primer
(F):5'- ACTTCAGGTGGCCCCTCTG -3'
(R):5'- AGCTCTTTTCTTGCACAGCTGTTAG -3'
Posted On 2015-09-25