Incidental Mutation 'R5937:Pex1'
ID 462315
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 043242-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R5937 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3674487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 789 (N789K)
Ref Sequence ENSEMBL: ENSMUSP00000006061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000143132] [ENSMUST00000195894]
AlphaFold Q5BL07
PDB Structure Structure of the N-terminal domain of PEX1 AAA-ATPase: Characterization of a putative adaptor-binding domain [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006061
AA Change: N789K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: N789K

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 possibly damaging
Transcript: ENSMUST00000121291
AA Change: N829K

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: N829K

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: 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 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: ENSMUST00000199035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199650
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,495 (GRCm39) W314R probably benign Het
Adgrv1 A T 13: 81,255,194 (GRCm39) V6143E probably damaging Het
Agap3 C T 5: 24,682,815 (GRCm39) T261I probably damaging Het
Ano6 T C 15: 95,811,838 (GRCm39) I241T probably damaging Het
Arhgef28 T C 13: 98,076,051 (GRCm39) T1328A probably benign Het
Capn10 C T 1: 92,867,105 (GRCm39) R112W probably damaging Het
Car5a A T 8: 122,666,560 (GRCm39) W46R probably damaging Het
Cntn6 C A 6: 104,810,064 (GRCm39) T582K possibly damaging Het
Ctsh T C 9: 89,943,509 (GRCm39) V60A probably benign Het
Ctsll3 A G 13: 60,947,410 (GRCm39) F259L probably damaging Het
Dennd2b A T 7: 109,156,478 (GRCm39) C91S possibly damaging Het
Fam228a T C 12: 4,787,725 (GRCm39) E16G probably damaging Het
G3bp2 A G 5: 92,203,256 (GRCm39) I388T probably damaging Het
Galnt5 A T 2: 57,928,949 (GRCm39) K926N probably benign Het
Gm10097 G A 10: 5,019,485 (GRCm39) probably benign Het
Gm9978 T A 10: 78,322,675 (GRCm39) noncoding transcript Het
Gria1 A G 11: 57,080,559 (GRCm39) T112A probably benign Het
Hnrnpk A C 13: 58,543,016 (GRCm39) V134G probably damaging Het
Insr A G 8: 3,224,808 (GRCm39) V220A probably benign Het
Lhx4 A G 1: 155,586,023 (GRCm39) I96T probably damaging Het
Lrp1 T C 10: 127,419,745 (GRCm39) T955A possibly damaging Het
Lrtm1 T C 14: 28,743,787 (GRCm39) V85A possibly damaging Het
Man2a2 T C 7: 80,013,251 (GRCm39) Y514C probably damaging Het
Npas1 T A 7: 16,197,187 (GRCm39) D226V probably benign Het
Nrcam G A 12: 44,619,074 (GRCm39) V858I probably benign Het
Or14c40 G T 7: 86,313,684 (GRCm39) L271F probably benign Het
Or5b108 T A 19: 13,168,675 (GRCm39) S215T probably damaging Het
Pde6b G T 5: 108,572,193 (GRCm39) A478S probably benign Het
Plekha6 A G 1: 133,187,839 (GRCm39) D120G possibly damaging Het
Pomgnt1 A G 4: 116,011,110 (GRCm39) T220A probably benign Het
Sdr39u1 A T 14: 56,135,364 (GRCm39) I193K probably damaging Het
Sec61a2 C A 2: 5,891,368 (GRCm39) M54I probably benign Het
Sema5a A G 15: 32,574,987 (GRCm39) Y365C probably damaging Het
Sra1 C T 18: 36,804,652 (GRCm39) probably null Het
Taf5 C T 19: 47,070,334 (GRCm39) S640L probably damaging Het
Tas2r140 T A 6: 133,032,236 (GRCm39) H174L probably benign Het
Tmem63a T A 1: 180,788,716 (GRCm39) V351D probably damaging Het
Ttll7 C T 3: 146,649,847 (GRCm39) Q626* probably null Het
Ubn2 T A 6: 38,440,917 (GRCm39) V263E possibly damaging Het
Vmn2r106 C T 17: 20,505,667 (GRCm39) W9* probably null Het
Xrcc3 C G 12: 111,774,406 (GRCm39) C141S probably null Het
Zfp516 T A 18: 82,974,958 (GRCm39) D385E probably 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
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
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'- AGCATTTCCAGTCAATGACACC -3'
(R):5'- GATGAGCTAACAAATAAAGCCCTAG -3'

Sequencing Primer
(F):5'- CTTTAATTCCATCACTCAGGAGGCAG -3'
(R):5'- GCCAATGGCTGAGGATTTCTTC -3'
Posted On 2017-02-28