Incidental Mutation 'IGL01960:Pex1'
ID 182393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex1
Ensembl Gene ENSMUSG00000005907
Gene Name peroxisomal biogenesis factor 1
Synonyms peroxisome biogenesis factor 1, 5430414H02Rik, E330005K07Rik, ZWS1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # IGL01960
Quality Score
Status
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 3677588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000143132] [ENSMUST00000195894]
AlphaFold Q5BL07
Predicted Effect probably benign
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 benign
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 benign
Transcript: ENSMUST00000143132
SMART Domains Protein: ENSMUSP00000116645
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Blast:AAA 1 68 7e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000195894
SMART Domains Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199632
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G A 4: 129,906,177 (GRCm39) probably benign Het
Adh7 T C 3: 137,932,043 (GRCm39) I219T probably damaging Het
Ankmy1 C A 1: 92,799,385 (GRCm39) probably benign Het
Aoc1 A G 6: 48,885,537 (GRCm39) I681V probably benign Het
Arfgap3 T C 15: 83,197,758 (GRCm39) T333A probably benign Het
Cdc42ep4 A G 11: 113,619,830 (GRCm39) V187A probably benign Het
Cyp4f40 G A 17: 32,878,535 (GRCm39) G26R probably benign Het
Dnah7b T A 1: 46,163,497 (GRCm39) probably benign Het
Dnajb4 T C 3: 151,892,176 (GRCm39) E219G probably damaging Het
Dnmt3b A G 2: 153,518,631 (GRCm39) K578R possibly damaging Het
Dst A T 1: 34,329,570 (GRCm39) D4649V probably damaging Het
Fam20c T C 5: 138,792,075 (GRCm39) S391P probably damaging Het
Fbxw10 A T 11: 62,767,582 (GRCm39) Y801F probably damaging Het
Frem2 T G 3: 53,429,725 (GRCm39) E2775A probably benign Het
Frmd4b A T 6: 97,272,741 (GRCm39) S830T possibly damaging Het
Gatad2a T G 8: 70,362,598 (GRCm39) S581R possibly damaging Het
Gpcpd1 C T 2: 132,381,818 (GRCm39) probably null Het
Igsf10 A G 3: 59,226,158 (GRCm39) L2505P probably benign Het
Igsf9b A G 9: 27,239,902 (GRCm39) D649G possibly damaging Het
Impact T C 18: 13,107,815 (GRCm39) C28R probably benign Het
Ino80d G T 1: 63,097,306 (GRCm39) Q863K probably damaging Het
Iqsec1 A C 6: 90,653,762 (GRCm39) M675R probably damaging Het
Kcng3 C T 17: 83,895,279 (GRCm39) V396I probably damaging Het
Klhl18 A T 9: 110,279,814 (GRCm39) D60E probably benign Het
Krtap7-1 C T 16: 89,305,156 (GRCm39) probably benign Het
Mal2 T A 15: 54,461,941 (GRCm39) Y145* probably null Het
Mcpt8 A T 14: 56,319,864 (GRCm39) probably null Het
Mdn1 A G 4: 32,758,393 (GRCm39) D4810G probably benign Het
Med24 T C 11: 98,598,368 (GRCm39) I766V probably benign Het
Mga G A 2: 119,769,138 (GRCm39) V1477M probably damaging Het
Mybph T A 1: 134,121,663 (GRCm39) V112E probably benign Het
Nmur2 A T 11: 55,931,337 (GRCm39) S125T probably damaging Het
Or2w3 T C 11: 58,556,691 (GRCm39) V102A probably benign Het
Or6c212 A G 10: 129,558,756 (GRCm39) I219T probably damaging Het
Or8b44 A T 9: 38,410,003 (GRCm39) I13F probably damaging Het
Otop3 A G 11: 115,231,795 (GRCm39) N220S probably damaging Het
Pacsin1 T G 17: 27,923,809 (GRCm39) probably null Het
Pcsk1 A G 13: 75,241,286 (GRCm39) R89G possibly damaging Het
Pde2a A T 7: 101,153,947 (GRCm39) E509V probably benign Het
Ppp4r4 T G 12: 103,547,753 (GRCm39) probably benign Het
Pygb T A 2: 150,655,403 (GRCm39) N251K probably benign Het
Rsf1 C T 7: 97,310,782 (GRCm39) T504I probably benign Het
Slc5a11 A T 7: 122,869,163 (GRCm39) T584S probably benign Het
Smad2 G A 18: 76,395,555 (GRCm39) probably benign Het
Srsf6 G A 2: 162,775,674 (GRCm39) R161H probably damaging Het
Tbx3 T A 5: 119,820,708 (GRCm39) S573T probably benign Het
Tecpr1 C T 5: 144,153,737 (GRCm39) R172Q probably benign Het
Ttn T A 2: 76,619,244 (GRCm39) probably null Het
Ubr2 T C 17: 47,284,893 (GRCm39) M542V probably benign Het
Unc80 T C 1: 66,647,659 (GRCm39) probably benign Het
Vmn1r222 T A 13: 23,416,315 (GRCm39) K299N probably benign Het
Wwp1 A T 4: 19,662,115 (GRCm39) probably benign Het
Zbtb46 T A 2: 181,065,928 (GRCm39) H74L possibly damaging Het
Zfp106 A T 2: 120,354,524 (GRCm39) L1416I probably damaging Het
Zfp106 A G 2: 120,369,803 (GRCm39) L73S probably benign Het
Zfp667 G A 7: 6,308,336 (GRCm39) G335R 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
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
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
Posted On 2014-05-07