Incidental Mutation 'R1454:Pex13'
ID 162215
Institutional Source Beutler Lab
Gene Symbol Pex13
Ensembl Gene ENSMUSG00000020283
Gene Name peroxisomal biogenesis factor 13
Synonyms 2610008O20Rik
MMRRC Submission 039509-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1454 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 23597283-23615883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23599422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 363 (I363T)
Ref Sequence ENSEMBL: ENSMUSP00000020523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020523] [ENSMUST00000130811]
AlphaFold Q9D0K1
PDB Structure Solution structure of the SH3 domain of mouse peroxisomal biogenesis factor 13 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000020523
AA Change: I363T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: I363T

low complexity region 5 11 N/A INTRINSIC
low complexity region 18 30 N/A INTRINSIC
Pfam:Peroxin-13_N 101 256 3.6e-51 PFAM
SH3 277 337 1.42e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130811
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
PHENOTYPE: Targeted disruption of this gene results in intrauterine growth retardation, hypotonia, aphagia, abnormal lamination of the cerebral cortex associated with a neuronal migration defect, liver steatosis, delayed differentiation of renal glomeruli, impairedperoxisome metabolism, and neonatal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,666,881 (GRCm39) V537A possibly damaging Het
Adcy10 A T 1: 165,342,949 (GRCm39) I272F possibly damaging Het
Adcy6 A G 15: 98,502,609 (GRCm39) S2P probably damaging Het
Agap1 A G 1: 89,765,528 (GRCm39) probably null Het
Aldh3a2 A G 11: 61,155,928 (GRCm39) V116A probably benign Het
Ankdd1b A T 13: 96,569,913 (GRCm39) probably null Het
Antxrl G A 14: 33,782,906 (GRCm39) V233I probably damaging Het
Atp8b5 A G 4: 43,302,590 (GRCm39) I38V probably benign Het
Atxn7l2 A G 3: 108,115,748 (GRCm39) probably benign Het
Bfsp2 A T 9: 103,357,424 (GRCm39) M1K probably null Het
Camsap3 T A 8: 3,653,968 (GRCm39) I520N possibly damaging Het
Cenpc1 C T 5: 86,161,369 (GRCm39) V854I possibly damaging Het
Csnk2a1 T C 2: 152,099,347 (GRCm39) L88S probably damaging Het
Dcaf17 A G 2: 70,903,517 (GRCm39) N171D probably damaging Het
Dctn1 G C 6: 83,174,490 (GRCm39) A1077P possibly damaging Het
Dock1 T C 7: 134,453,338 (GRCm39) probably benign Het
Egfr A T 11: 16,839,920 (GRCm39) I645L probably benign Het
Gdpd1 T G 11: 86,950,335 (GRCm39) K79N possibly damaging Het
Ggt5 A T 10: 75,445,742 (GRCm39) L432F probably benign Het
Gm11060 A G 2: 104,924,097 (GRCm39) T22A unknown Het
Gpr132 G A 12: 112,815,860 (GRCm39) T322I possibly damaging Het
Grin1 G A 2: 25,182,442 (GRCm39) R940* probably null Het
Hip1 T C 5: 135,467,486 (GRCm39) T316A probably benign Het
Hnrnpm A G 17: 33,885,462 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,846 (GRCm39) T200I probably benign Het
Hspa9 A T 18: 35,071,659 (GRCm39) L647H probably damaging Het
Itgad T C 7: 127,791,309 (GRCm39) I727T probably benign Het
Kcnma1 T C 14: 23,513,268 (GRCm39) D522G probably damaging Het
Lipf C T 19: 33,948,132 (GRCm39) probably benign Het
Ly6i T C 15: 74,854,904 (GRCm39) D2G possibly damaging Het
Mast1 G A 8: 85,647,264 (GRCm39) P631L probably damaging Het
Mmp1b G C 9: 7,386,693 (GRCm39) L144V probably damaging Het
Msh6 A G 17: 88,292,186 (GRCm39) S314G probably benign Het
Myo5c G A 9: 75,170,348 (GRCm39) V493I possibly damaging Het
Nefm A G 14: 68,358,828 (GRCm39) L402P probably damaging Het
Nrxn2 T C 19: 6,531,476 (GRCm39) F697S probably damaging Het
Or13c7b A T 4: 43,820,639 (GRCm39) C241S probably damaging Het
Plcb3 T C 19: 6,932,414 (GRCm39) R1082G possibly damaging Het
Psg28 A T 7: 18,161,889 (GRCm39) S205T possibly damaging Het
Pxt1 C A 17: 29,153,756 (GRCm39) V26L possibly damaging Het
Ripk2 G A 4: 16,163,239 (GRCm39) T53M probably damaging Het
Slc5a9 A G 4: 111,741,161 (GRCm39) V495A probably benign Het
Snrpa T C 7: 26,892,362 (GRCm39) K66R probably benign Het
Srgap1 T A 10: 121,732,643 (GRCm39) E145V probably damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tatdn2 T A 6: 113,681,288 (GRCm39) D440E probably benign Het
Tbc1d21 A G 9: 58,270,096 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,034 (GRCm39) Y570* probably null Het
Tbc1d32 A T 10: 56,053,575 (GRCm39) probably benign Het
Tdrd5 G C 1: 156,087,406 (GRCm39) Q839E probably benign Het
Tecpr2 A G 12: 110,935,387 (GRCm39) N1402S probably benign Het
Thbs1 A G 2: 117,953,153 (GRCm39) D921G probably damaging Het
Tll1 A G 8: 64,491,524 (GRCm39) V803A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm4 T C 7: 44,966,480 (GRCm39) E461G probably damaging Het
Zp3 T A 5: 136,013,042 (GRCm39) I152N probably damaging Het
Other mutations in Pex13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Pex13 APN 11 23,606,111 (GRCm39) missense probably benign
Pitch UTSW 11 23,605,949 (GRCm39) missense probably benign
yaw UTSW 11 23,599,527 (GRCm39) missense possibly damaging 0.58
R0455:Pex13 UTSW 11 23,605,949 (GRCm39) missense probably benign
R0671:Pex13 UTSW 11 23,615,831 (GRCm39) missense possibly damaging 0.57
R1738:Pex13 UTSW 11 23,599,458 (GRCm39) missense probably benign
R1830:Pex13 UTSW 11 23,605,513 (GRCm39) missense probably damaging 0.96
R2349:Pex13 UTSW 11 23,605,789 (GRCm39) missense probably damaging 0.96
R4688:Pex13 UTSW 11 23,605,472 (GRCm39) missense possibly damaging 0.69
R5094:Pex13 UTSW 11 23,605,441 (GRCm39) missense probably benign 0.00
R5727:Pex13 UTSW 11 23,605,705 (GRCm39) missense probably benign 0.02
R6360:Pex13 UTSW 11 23,605,690 (GRCm39) missense probably benign 0.17
R6837:Pex13 UTSW 11 23,599,527 (GRCm39) missense possibly damaging 0.58
R6957:Pex13 UTSW 11 23,605,628 (GRCm39) missense probably benign
R7167:Pex13 UTSW 11 23,605,472 (GRCm39) missense possibly damaging 0.69
R7880:Pex13 UTSW 11 23,599,369 (GRCm39) missense probably benign 0.26
R7898:Pex13 UTSW 11 23,600,929 (GRCm39) critical splice donor site probably null
R8000:Pex13 UTSW 11 23,605,915 (GRCm39) missense probably damaging 1.00
R8284:Pex13 UTSW 11 23,605,685 (GRCm39) missense possibly damaging 0.69
R9086:Pex13 UTSW 11 23,615,760 (GRCm39) missense probably damaging 1.00
R9334:Pex13 UTSW 11 23,605,630 (GRCm39) missense probably benign 0.04
R9415:Pex13 UTSW 11 23,601,034 (GRCm39) missense probably damaging 1.00
R9743:Pex13 UTSW 11 23,606,119 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-14