Incidental Mutation 'R8354:Pex1'
ID 660587
Institutional Source Beutler Lab
Gene Symbol Pex1
Ensembl Gene ENSMUSG00000005907
Gene Name peroxisomal biogenesis factor 1
Synonyms peroxisome biogenesis factor 1, 5430414H02Rik, E330005K07Rik, ZWS1
MMRRC Submission 067806-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R8354 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3681707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1051 (L1051Q)
Ref Sequence ENSEMBL: ENSMUSP00000113304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000140871]
AlphaFold Q5BL07
Predicted Effect probably damaging
Transcript: ENSMUST00000006061
AA Change: L1011Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: L1011Q

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.4e-53 PFAM
Pfam:PEX-1N 103 179 8.6e-27 PFAM
low complexity region 508 527 N/A INTRINSIC
AAA 552 702 1.39e-10 SMART
low complexity region 754 765 N/A INTRINSIC
AAA 834 970 4.07e-17 SMART
low complexity region 1024 1044 N/A INTRINSIC
low complexity region 1051 1061 N/A INTRINSIC
low complexity region 1065 1078 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121291
AA Change: L1051Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: L1051Q

DomainStartEndE-ValueType
Pfam:PEX-2N 17 98 8.7e-38 PFAM
Pfam:PEX-1N 104 179 1.4e-27 PFAM
low complexity region 548 567 N/A INTRINSIC
AAA 592 742 1.39e-10 SMART
low complexity region 794 805 N/A INTRINSIC
AAA 874 1010 4.07e-17 SMART
low complexity region 1064 1084 N/A INTRINSIC
low complexity region 1091 1101 N/A INTRINSIC
low complexity region 1105 1118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140871
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-in allele display premature death, postnatal growth retardation, fatty livers, a bile acid defect associated with intestinal lipid malabsorption and cholestasis, and a retinopathy associated with retinal cone cell degenerationand abnormal cone and rod electrophysiology. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,676,297 (GRCm39) S353R probably damaging Het
Ap1ar T C 3: 127,606,428 (GRCm39) probably null Het
Asxl1 C A 2: 153,235,345 (GRCm39) N213K probably benign Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Cacna2d2 G A 9: 107,401,334 (GRCm39) E706K possibly damaging Het
Cfap46 C T 7: 139,233,414 (GRCm39) V296I probably benign Het
Cldn5 A G 16: 18,596,043 (GRCm39) T100A probably benign Het
Ctnna1 C A 18: 35,385,776 (GRCm39) N802K possibly damaging Het
Dennd2b G A 7: 109,124,755 (GRCm39) R675* probably null Het
Dip2c A G 13: 9,671,918 (GRCm39) T968A probably benign Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A T 17: 30,862,234 (GRCm39) D203V probably benign Het
Dnajc13 A G 9: 104,094,927 (GRCm39) M585T probably damaging Het
Donson G T 16: 91,480,685 (GRCm39) T262K possibly damaging Het
E2f3 T A 13: 30,169,787 (GRCm39) probably benign Het
Fam110c A G 12: 31,125,178 (GRCm39) E380G possibly damaging Het
Gbp9 T G 5: 105,242,027 (GRCm39) T177P probably damaging Het
Gins3 C T 8: 96,364,646 (GRCm39) A132V probably benign Het
Glra3 T A 8: 56,578,345 (GRCm39) Y467* probably null Het
Gm7138 A G 10: 77,612,444 (GRCm39) probably benign Het
Golim4 T C 3: 75,802,308 (GRCm39) E328G probably damaging Het
Habp2 T A 19: 56,301,388 (GRCm39) C270* probably null Het
Hecw2 A G 1: 53,964,467 (GRCm39) probably null Het
Hmcn1 A T 1: 150,634,142 (GRCm39) Y815N possibly damaging Het
Igfn1 A T 1: 135,887,619 (GRCm39) C2482S possibly damaging Het
Igkv4-71 A G 6: 69,220,260 (GRCm39) V57A probably damaging Het
Itpkb G A 1: 180,160,908 (GRCm39) E345K possibly damaging Het
Itpr3 G A 17: 27,334,893 (GRCm39) V2136M possibly damaging Het
Kcnh3 A G 15: 99,127,211 (GRCm39) T336A probably damaging Het
Kdm4d T C 9: 14,375,235 (GRCm39) T208A possibly damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Krt10 A G 11: 99,280,086 (GRCm39) probably benign Het
Lgals3bp T A 11: 118,289,367 (GRCm39) N28I probably damaging Het
Matn2 T C 15: 34,378,843 (GRCm39) L293P probably damaging Het
Mical3 T C 6: 120,950,381 (GRCm39) E1010G probably damaging Het
Mpp4 C A 1: 59,169,224 (GRCm39) R380L probably damaging Het
Msh5 A G 17: 35,250,742 (GRCm39) F469L possibly damaging Het
Ncam2 A G 16: 81,309,847 (GRCm39) T446A probably benign Het
Neurl4 A G 11: 69,800,062 (GRCm39) D1050G probably damaging Het
Olfml2b T C 1: 170,509,793 (GRCm39) Y714H possibly damaging Het
Or5d43 T C 2: 88,105,036 (GRCm39) D119G probably damaging Het
Or8c17 T C 9: 38,180,513 (GRCm39) S235P probably benign Het
Pcnx2 T C 8: 126,488,357 (GRCm39) E1729G probably damaging Het
Peg10 GCACATCAGGATCC GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC 6: 4,756,452 (GRCm39) probably benign Het
Prkag2 T A 5: 25,074,137 (GRCm39) R283* probably null Het
Prrc1 T A 18: 57,504,503 (GRCm39) M238K probably damaging Het
Ptprj T C 2: 90,300,061 (GRCm39) T247A probably benign Het
Ptprz1 A G 6: 22,999,614 (GRCm39) Y568C probably damaging Het
Rab36 G A 10: 74,884,291 (GRCm39) A114T probably damaging Het
Rfx7 T C 9: 72,526,731 (GRCm39) V1307A probably benign Het
Scaf1 A C 7: 44,657,251 (GRCm39) probably benign Het
Sema4g A T 19: 44,986,866 (GRCm39) T440S probably benign Het
Setbp1 A T 18: 78,900,598 (GRCm39) V1023E probably damaging Het
Slc46a2 T C 4: 59,913,931 (GRCm39) I331V possibly damaging Het
Slc4a7 C T 14: 14,786,313 (GRCm38) R1000C probably damaging Het
Sorcs2 T C 5: 36,222,753 (GRCm39) H162R probably benign Het
Spata31f1e T A 4: 42,793,223 (GRCm39) H303L probably benign Het
Strip2 G A 6: 29,920,531 (GRCm39) probably null Het
Stx2 T A 5: 129,071,932 (GRCm39) I42L probably benign Het
Tas2r124 A T 6: 132,732,410 (GRCm39) T240S probably benign Het
Tgfbrap1 A T 1: 43,115,070 (GRCm39) V10D probably damaging Het
Tmem41a T A 16: 21,766,181 (GRCm39) Y19F probably benign Het
Tmprss5 A G 9: 49,018,439 (GRCm39) T74A possibly damaging Het
Trim16 G T 11: 62,727,587 (GRCm39) R216L probably benign Het
Trmt10c T C 16: 55,854,870 (GRCm39) K255R probably benign Het
Trpm2 A T 10: 77,769,483 (GRCm39) V747E probably damaging Het
Ube2v2 T C 16: 15,399,005 (GRCm39) D28G possibly damaging Het
Uty G A Y: 1,157,928 (GRCm39) T705I possibly damaging Het
Vmn2r80 A T 10: 78,984,710 (GRCm39) I21F probably benign Het
Wdr11 T C 7: 129,204,723 (GRCm39) L176S probably damaging Het
Zfp992 A G 4: 146,551,319 (GRCm39) T347A probably benign Het
Other mutations in Pex1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Pex1 APN 5 3,656,027 (GRCm39) missense probably benign 0.00
IGL01315:Pex1 APN 5 3,659,975 (GRCm39) missense probably damaging 1.00
IGL01671:Pex1 APN 5 3,674,088 (GRCm39) missense probably benign 0.00
IGL01863:Pex1 APN 5 3,656,066 (GRCm39) missense probably benign 0.01
IGL01933:Pex1 APN 5 3,683,789 (GRCm39) missense probably damaging 1.00
IGL01960:Pex1 APN 5 3,677,588 (GRCm39) unclassified probably benign
IGL02347:Pex1 APN 5 3,653,350 (GRCm39) missense probably damaging 0.98
IGL02374:Pex1 APN 5 3,685,481 (GRCm39) missense probably benign 0.01
IGL02392:Pex1 APN 5 3,655,952 (GRCm39) nonsense probably null
IGL02597:Pex1 APN 5 3,685,865 (GRCm39) missense possibly damaging 0.50
IGL02703:Pex1 APN 5 3,665,120 (GRCm39) missense probably benign 0.24
IGL02815:Pex1 APN 5 3,686,797 (GRCm39) missense probably damaging 0.97
IGL02862:Pex1 APN 5 3,655,424 (GRCm39) intron probably benign
IGL03005:Pex1 APN 5 3,680,292 (GRCm39) missense probably null 0.96
E0370:Pex1 UTSW 5 3,681,614 (GRCm39) splice site probably null
F5493:Pex1 UTSW 5 3,685,912 (GRCm39) critical splice donor site probably null
R0014:Pex1 UTSW 5 3,676,141 (GRCm39) unclassified probably benign
R0014:Pex1 UTSW 5 3,676,141 (GRCm39) unclassified probably benign
R0401:Pex1 UTSW 5 3,683,759 (GRCm39) missense probably damaging 1.00
R0480:Pex1 UTSW 5 3,656,444 (GRCm39) splice site probably null
R0555:Pex1 UTSW 5 3,656,130 (GRCm39) missense possibly damaging 0.89
R0976:Pex1 UTSW 5 3,683,943 (GRCm39) missense probably benign 0.00
R1200:Pex1 UTSW 5 3,656,411 (GRCm39) critical splice donor site probably null
R1672:Pex1 UTSW 5 3,676,085 (GRCm39) missense probably damaging 1.00
R1753:Pex1 UTSW 5 3,680,044 (GRCm39) missense probably damaging 1.00
R1880:Pex1 UTSW 5 3,655,770 (GRCm39) missense probably benign
R1953:Pex1 UTSW 5 3,680,038 (GRCm39) missense probably damaging 1.00
R2054:Pex1 UTSW 5 3,653,341 (GRCm39) missense possibly damaging 0.78
R2081:Pex1 UTSW 5 3,674,132 (GRCm39) critical splice donor site probably null
R2237:Pex1 UTSW 5 3,668,915 (GRCm39) critical splice donor site probably null
R3946:Pex1 UTSW 5 3,676,084 (GRCm39) missense probably damaging 1.00
R4528:Pex1 UTSW 5 3,681,712 (GRCm39) missense probably damaging 1.00
R4579:Pex1 UTSW 5 3,668,880 (GRCm39) missense probably benign 0.03
R4585:Pex1 UTSW 5 3,683,885 (GRCm39) missense probably damaging 1.00
R4586:Pex1 UTSW 5 3,683,885 (GRCm39) missense probably damaging 1.00
R4656:Pex1 UTSW 5 3,654,880 (GRCm39) critical splice donor site probably null
R4789:Pex1 UTSW 5 3,680,270 (GRCm39) missense probably damaging 0.98
R4850:Pex1 UTSW 5 3,674,426 (GRCm39) missense probably benign
R4963:Pex1 UTSW 5 3,659,924 (GRCm39) missense probably benign 0.01
R5005:Pex1 UTSW 5 3,672,310 (GRCm39) missense probably damaging 1.00
R5015:Pex1 UTSW 5 3,670,597 (GRCm39) missense probably damaging 1.00
R5019:Pex1 UTSW 5 3,672,331 (GRCm39) missense probably damaging 1.00
R5937:Pex1 UTSW 5 3,674,487 (GRCm39) missense possibly damaging 0.94
R5942:Pex1 UTSW 5 3,660,277 (GRCm39) missense probably benign 0.04
R5995:Pex1 UTSW 5 3,657,704 (GRCm39) missense possibly damaging 0.53
R6434:Pex1 UTSW 5 3,680,196 (GRCm39) nonsense probably null
R6552:Pex1 UTSW 5 3,673,953 (GRCm39) missense probably damaging 1.00
R6777:Pex1 UTSW 5 3,672,358 (GRCm39) missense probably benign 0.01
R6877:Pex1 UTSW 5 3,685,505 (GRCm39) missense probably benign 0.19
R6948:Pex1 UTSW 5 3,655,994 (GRCm39) missense probably benign 0.00
R7317:Pex1 UTSW 5 3,668,875 (GRCm39) missense probably damaging 1.00
R7408:Pex1 UTSW 5 3,680,222 (GRCm39) missense probably damaging 1.00
R7658:Pex1 UTSW 5 3,646,244 (GRCm39) unclassified probably benign
R8062:Pex1 UTSW 5 3,655,656 (GRCm39) missense probably benign
R8366:Pex1 UTSW 5 3,676,007 (GRCm39) missense probably benign 0.00
R8482:Pex1 UTSW 5 3,662,923 (GRCm39) missense probably benign 0.00
R8673:Pex1 UTSW 5 3,685,886 (GRCm39) missense possibly damaging 0.65
R8812:Pex1 UTSW 5 3,681,614 (GRCm39) missense probably benign 0.00
R9004:Pex1 UTSW 5 3,662,914 (GRCm39) missense probably benign 0.01
R9031:Pex1 UTSW 5 3,686,844 (GRCm39) missense probably damaging 1.00
R9080:Pex1 UTSW 5 3,655,476 (GRCm39) missense probably damaging 1.00
R9586:Pex1 UTSW 5 3,676,047 (GRCm39) missense probably damaging 0.98
R9655:Pex1 UTSW 5 3,655,653 (GRCm39) missense probably damaging 1.00
R9758:Pex1 UTSW 5 3,685,876 (GRCm39) missense probably damaging 0.96
X0019:Pex1 UTSW 5 3,655,653 (GRCm39) missense probably damaging 1.00
X0027:Pex1 UTSW 5 3,680,270 (GRCm39) missense probably damaging 0.98
Z1088:Pex1 UTSW 5 3,656,075 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGTCCAGACTGCTTGGAAAG -3'
(R):5'- GAATTCTCTGCAAATCCCACATTC -3'

Sequencing Primer
(F):5'- AGCTTAGCTTGTTAGACGTGTCAG -3'
(R):5'- TCCCACATTCCAATTTTAGGCAAG -3'
Posted On 2021-01-18