Incidental Mutation 'R0480:Pex1'
ID 261896
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 038680-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R0480 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation splice site (1582 bp from exon)
DNA Base Change (assembly) G to A at 3656444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000121291] [ENSMUST00000142516] [ENSMUST00000195894]
AlphaFold Q5BL07
Predicted Effect probably null
Transcript: ENSMUST00000006061
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907

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 null
Transcript: ENSMUST00000121291
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907

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 null
Transcript: ENSMUST00000121291
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907

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 noncoding transcript
Transcript: ENSMUST00000123268
Predicted Effect probably null
Transcript: ENSMUST00000126545
SMART Domains Protein: ENSMUSP00000121813
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
low complexity region 88 107 N/A INTRINSIC
Pfam:AAA 136 212 2.2e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126545
SMART Domains Protein: ENSMUSP00000121813
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
low complexity region 88 107 N/A INTRINSIC
Pfam:AAA 136 212 2.2e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142516
SMART Domains Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
PDB:1WLF|A 1 21 5e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143959
Predicted Effect probably null
Transcript: ENSMUST00000195894
SMART Domains Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.5e-51 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 99% (117/118)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,012 (GRCm39) L165F probably damaging Het
Adamts18 A G 8: 114,465,450 (GRCm39) V714A possibly damaging Het
Adamtsl1 G T 4: 86,171,055 (GRCm39) A518S probably benign Het
Adcy2 C T 13: 68,880,231 (GRCm39) V363M probably damaging Het
Ago4 G T 4: 126,419,870 (GRCm39) Q36K probably benign Het
Akr1a1 A G 4: 116,497,044 (GRCm39) V172A possibly damaging Het
Alkbh2 T A 5: 114,263,596 (GRCm39) N137I probably damaging Het
Ank3 T A 10: 69,715,756 (GRCm39) S470T probably damaging Het
Ankrd12 T C 17: 66,356,823 (GRCm39) T65A possibly damaging Het
Aox1 A T 1: 58,082,810 (GRCm39) probably benign Het
Arhgap11a A T 2: 113,670,163 (GRCm39) I320N probably benign Het
Arhgap17 G A 7: 122,893,867 (GRCm39) H518Y probably damaging Het
Ascc3 T C 10: 50,611,348 (GRCm39) V1563A probably damaging Het
Atf2 G A 2: 73,649,500 (GRCm39) probably benign Het
Bmpr2 C T 1: 59,884,818 (GRCm39) T268I probably damaging Het
Bpifb9a A G 2: 154,106,608 (GRCm39) I380V probably benign Het
C2cd2 G A 16: 97,678,348 (GRCm39) T363I probably benign Het
Catsperg2 T G 7: 29,420,723 (GRCm39) N190H probably damaging Het
Ccdc138 T C 10: 58,397,789 (GRCm39) L543S probably damaging Het
Ccdc170 A T 10: 4,468,939 (GRCm39) K162N probably benign Het
Cdca5 G T 19: 6,140,328 (GRCm39) R163L probably damaging Het
Cdh24 A G 14: 54,870,054 (GRCm39) F239S probably benign Het
Cdkl3 T C 11: 51,895,882 (GRCm39) V43A probably damaging Het
Cep152 G T 2: 125,423,639 (GRCm39) Q921K possibly damaging Het
Cftr G A 6: 18,274,517 (GRCm39) probably benign Het
Chmp5 T C 4: 40,948,690 (GRCm39) probably benign Het
Cit T A 5: 116,071,452 (GRCm39) probably benign Het
Cngb3 T A 4: 19,309,517 (GRCm39) probably benign Het
Cnr2 A G 4: 135,644,912 (GRCm39) E330G probably benign Het
Cyp21a1 A T 17: 35,020,800 (GRCm39) L473Q probably damaging Het
Dchs1 T C 7: 105,420,696 (GRCm39) T575A probably benign Het
Dedd2 A G 7: 24,903,050 (GRCm39) V303A probably damaging Het
Dmd G T X: 83,469,344 (GRCm39) A2370S probably benign Het
Dnah10 T A 5: 124,885,915 (GRCm39) N3009K probably damaging Het
Dnajc13 G T 9: 104,077,708 (GRCm39) N934K probably damaging Het
Dock1 C T 7: 134,339,447 (GRCm39) L106F probably damaging Het
Fat3 A G 9: 15,909,025 (GRCm39) Y2326H probably benign Het
Fhl5 A T 4: 25,207,101 (GRCm39) C222* probably null Het
Gnmt T C 17: 47,036,854 (GRCm39) T252A probably benign Het
Gpi-ps A G 8: 5,689,888 (GRCm39) noncoding transcript Het
Gsta5 C T 9: 78,210,099 (GRCm39) A135V probably benign Het
Gtf2f1 A G 17: 57,311,307 (GRCm39) probably null Het
Gtf3a T C 5: 146,890,039 (GRCm39) Y187H probably damaging Het
Hdac2 A G 10: 36,850,788 (GRCm39) Y14C probably damaging Het
Hnrnph1 T G 11: 50,276,589 (GRCm39) probably benign Het
Homer2 T C 7: 81,268,351 (GRCm39) D92G possibly damaging Het
Hspg2 T C 4: 137,277,335 (GRCm39) S2885P probably damaging Het
Insr A G 8: 3,211,770 (GRCm39) S1084P probably damaging Het
Ints11 T A 4: 155,972,081 (GRCm39) V362E probably damaging Het
Kank2 T C 9: 21,691,195 (GRCm39) N513S probably damaging Het
Kl T G 5: 150,876,753 (GRCm39) V191G probably damaging Het
Krt23 A G 11: 99,377,524 (GRCm39) probably null Het
Lama3 A C 18: 12,583,481 (GRCm39) T690P possibly damaging Het
Lamb1 G A 12: 31,332,720 (GRCm39) A281T possibly damaging Het
Lck T C 4: 129,449,433 (GRCm39) E299G probably damaging Het
Lonrf1 A G 8: 36,689,864 (GRCm39) V703A probably damaging Het
Ly6f T C 15: 75,143,526 (GRCm39) C78R probably damaging Het
Mapkap1 C T 2: 34,423,793 (GRCm39) probably benign Het
Mast1 T A 8: 85,639,718 (GRCm39) I1204F probably damaging Het
Mbd6 C T 10: 127,121,742 (GRCm39) probably benign Het
Mef2c A T 13: 83,741,020 (GRCm39) T60S probably damaging Het
Mgat4c C T 10: 102,224,980 (GRCm39) T398I probably damaging Het
Mmp12 C A 9: 7,350,016 (GRCm39) H102Q probably damaging Het
Mmp20 G A 9: 7,645,374 (GRCm39) G308E probably damaging Het
Mms19 A T 19: 41,943,285 (GRCm39) L395Q probably damaging Het
Mus81 A G 19: 5,537,959 (GRCm39) probably benign Het
Mypn C T 10: 63,028,982 (GRCm39) R27H probably benign Het
Nav3 T C 10: 109,689,161 (GRCm39) E372G probably damaging Het
Ncoa1 T A 12: 4,389,105 (GRCm39) I57F probably damaging Het
Ncstn T C 1: 171,910,159 (GRCm39) probably benign Het
Nefm C T 14: 68,361,608 (GRCm39) D219N probably damaging Het
Notch2 C T 3: 98,053,853 (GRCm39) T2172I possibly damaging Het
Obscn T A 11: 59,024,772 (GRCm39) K423* probably null Het
Or51l14 A G 7: 103,100,835 (GRCm39) N97S probably benign Het
Or5d37 A C 2: 87,923,972 (GRCm39) S103A probably benign Het
Or5k1 T C 16: 58,617,684 (GRCm39) N175S probably benign Het
Or9a2 A T 6: 41,749,198 (GRCm39) C12S probably benign Het
Ostm1 T A 10: 42,572,343 (GRCm39) M242K probably damaging Het
Oxnad1 T A 14: 31,821,437 (GRCm39) I154N probably damaging Het
Pcdhb10 T A 18: 37,546,152 (GRCm39) D409E probably damaging Het
Pdcd11 T C 19: 47,113,476 (GRCm39) probably benign Het
Peak1 C A 9: 56,165,916 (GRCm39) V671L probably benign Het
Plk4 T A 3: 40,760,075 (GRCm39) F324I probably benign Het
Poglut2 C T 1: 44,149,917 (GRCm39) W424* probably null Het
Ppfibp1 C A 6: 146,920,529 (GRCm39) probably null Het
Prcp T A 7: 92,568,290 (GRCm39) W276R probably damaging Het
Prr14l T C 5: 32,987,224 (GRCm39) E757G probably benign Het
Prss52 T A 14: 64,351,093 (GRCm39) Y293N probably damaging Het
Prune2 A G 19: 16,984,156 (GRCm39) probably benign Het
Ptprk G C 10: 28,461,943 (GRCm39) A84P probably damaging Het
Ptprk C T 10: 28,461,944 (GRCm39) A84V probably damaging Het
Rock1 A G 18: 10,079,120 (GRCm39) L1116P possibly damaging Het
Sdha A T 13: 74,475,452 (GRCm39) F526Y probably benign Het
Sema4b T C 7: 79,869,954 (GRCm39) F414S probably damaging Het
Serpina12 T C 12: 104,001,960 (GRCm39) D252G probably damaging Het
Siglecg C T 7: 43,060,550 (GRCm39) A310V probably benign Het
Slc30a8 A G 15: 52,188,966 (GRCm39) I194V probably benign Het
Spred3 A G 7: 28,862,400 (GRCm39) S148P probably damaging Het
Taf9b A G X: 105,262,014 (GRCm39) S58P probably damaging Het
Tgm4 A T 9: 122,891,484 (GRCm39) Y109F probably benign Het
Tmprss11c T G 5: 86,385,468 (GRCm39) probably benign Het
Tmtc3 A T 10: 100,307,266 (GRCm39) V246D probably damaging Het
Tnip1 C T 11: 54,828,820 (GRCm39) G116R probably damaging Het
Tpr A G 1: 150,303,992 (GRCm39) E1455G possibly damaging Het
Ttc3 T A 16: 94,232,863 (GRCm39) L986* probably null Het
Txndc15 A G 13: 55,872,436 (GRCm39) I275V possibly damaging Het
Ugt2b1 T A 5: 87,074,315 (GRCm39) I15L probably benign Het
Upf2 T C 2: 5,962,445 (GRCm39) V49A possibly damaging Het
Vmn1r117 G A 7: 20,617,371 (GRCm39) P226S probably benign Het
Vmn2r28 A T 7: 5,493,456 (GRCm39) H163Q probably benign Het
Vstm2a T A 11: 16,213,240 (GRCm39) S208R probably damaging Het
Zfp346 T A 13: 55,260,910 (GRCm39) C79* probably null Het
Zfp628 A T 7: 4,924,615 (GRCm39) T946S 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
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
R8354:Pex1 UTSW 5 3,681,707 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-02-04