Incidental Mutation 'R0014:Pex1'
ID 201323
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 038309-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R0014 (G1)
Quality Score 60
Status Validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 3676141 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: ENSMUST00000199632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199650
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (68/68)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Ankrd52 C A 10: 128,222,321 (GRCm39) T583K probably benign Het
C3ar1 C T 6: 122,827,810 (GRCm39) V136M probably damaging Het
Capg A G 6: 72,538,026 (GRCm39) E304G possibly damaging Het
Ccdc125 A C 13: 100,820,846 (GRCm39) N189T possibly damaging Het
Ccr5 T C 9: 123,924,658 (GRCm39) F87S probably damaging Het
Cd2ap T C 17: 43,118,819 (GRCm39) S540G probably benign Het
Cdt1 C T 8: 123,299,305 (GRCm39) T529M probably benign Het
Cfap126 A G 1: 170,953,353 (GRCm39) D49G possibly damaging Het
Cngb3 T C 4: 19,396,685 (GRCm39) I346T probably benign Het
Degs1l T C 1: 180,882,696 (GRCm39) F153L possibly damaging Het
Dgkd A G 1: 87,809,603 (GRCm39) D97G probably damaging Het
Dgkg A T 16: 22,384,114 (GRCm39) probably null Het
Dmbx1 G T 4: 115,775,221 (GRCm39) T358K probably damaging Het
Dnai3 T C 3: 145,787,178 (GRCm39) probably null Het
Epc2 A T 2: 49,412,537 (GRCm39) K172* probably null Het
F2rl2 A T 13: 95,837,417 (GRCm39) N154I probably damaging Het
Fyttd1 G A 16: 32,725,924 (GRCm39) R175Q probably damaging Het
Gbp5 T A 3: 142,212,496 (GRCm39) C395S probably damaging Het
Gen1 T C 12: 11,291,642 (GRCm39) N716D probably benign Het
Helz2 A G 2: 180,882,304 (GRCm39) L163P probably damaging Het
Hmox2 T A 16: 4,582,897 (GRCm39) L210Q probably damaging Het
Klhl28 T C 12: 65,004,076 (GRCm39) T146A probably benign Het
Lrrk2 T C 15: 91,686,248 (GRCm39) probably benign Het
Man2c1 T A 9: 57,046,985 (GRCm39) M580K probably benign Het
Neb G A 2: 52,177,168 (GRCm39) A1391V probably damaging Het
Nyap2 T C 1: 81,219,666 (GRCm39) S563P probably damaging Het
Or2at4 T C 7: 99,385,256 (GRCm39) V302A probably damaging Het
Or4k51 A G 2: 111,585,119 (GRCm39) D175G probably damaging Het
Or55b3 A G 7: 102,126,684 (GRCm39) I131T probably damaging Het
P2rx5 T A 11: 73,057,888 (GRCm39) probably benign Het
Pclo C T 5: 14,730,465 (GRCm39) probably benign Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Psma8 A G 18: 14,859,587 (GRCm39) I86V possibly damaging Het
Ptpdc1 G T 13: 48,740,395 (GRCm39) Y345* probably null Het
Rcbtb1 G T 14: 59,472,691 (GRCm39) K493N probably benign Het
Rexo2 A T 9: 48,385,747 (GRCm39) S126T probably benign Het
Rorc T A 3: 94,284,920 (GRCm39) probably benign Het
Slc7a2 T C 8: 41,364,065 (GRCm39) L426P probably damaging Het
Syde1 T C 10: 78,425,868 (GRCm39) T100A probably benign Het
Tbc1d20 A T 2: 152,153,701 (GRCm39) Q342L probably benign Het
Thbs1 A G 2: 117,943,831 (GRCm39) T150A possibly damaging Het
Trpm1 A G 7: 63,897,970 (GRCm39) H317R probably damaging Het
Tut1 T A 19: 8,939,811 (GRCm39) L265Q possibly damaging Het
Wdfy4 A G 14: 32,829,130 (GRCm39) F1029L possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp458 A G 13: 67,406,154 (GRCm39) V95A possibly damaging Het
Zscan18 A T 7: 12,503,344 (GRCm39) F738L possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- CGGTGGCGGTTATTACCATCCAAATAC -3'
(R):5'- TGAATTTTGTCTGTGGAACCAACTCCC -3'

Sequencing Primer
(F):5'- GGCTAGGttgttttgttttgttttg -3'
(R):5'- gccaggaaagggaggaag -3'
Posted On 2014-06-02