Incidental Mutation 'R9004:Pex1'
ID 685135
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 068834-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R9004 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3662914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 502 (S502G)
Ref Sequence ENSEMBL: ENSMUSP00000006061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [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 probably benign
Transcript: ENSMUST00000006061
AA Change: S502G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: S502G

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
AA Change: S542G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: S542G

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
SMART Domains Protein: ENSMUSP00000121813
Gene: ENSMUSG00000005907
AA Change: S81G

DomainStartEndE-ValueType
low complexity region 88 107 N/A INTRINSIC
Pfam:AAA 136 212 2.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195894
SMART Domains Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.5e-51 PFAM
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,454,197 (GRCm39) probably benign Het
2310057N15Rik C A 16: 88,570,986 (GRCm39) C18F probably damaging Het
Abca7 T A 10: 79,841,483 (GRCm39) M941K probably damaging Het
Abcd2 A G 15: 91,075,051 (GRCm39) I254T probably benign Het
Abcg8 C A 17: 85,004,790 (GRCm39) T519K probably benign Het
Adcy9 A G 16: 4,106,378 (GRCm39) V1149A probably damaging Het
Alg10b A G 15: 90,109,894 (GRCm39) Y69C probably damaging Het
Arhgef10l T C 4: 140,279,921 (GRCm39) D529G probably damaging Het
Ascc3 T A 10: 50,718,276 (GRCm39) C1990S probably benign Het
BC034090 T A 1: 155,102,138 (GRCm39) N42I possibly damaging Het
Bptf G A 11: 106,945,713 (GRCm39) P2509S probably damaging Het
Carmil1 T A 13: 24,225,662 (GRCm39) D1042V probably damaging Het
Ccny A G 18: 9,332,883 (GRCm39) V216A possibly damaging Het
Cdr2 T C 7: 120,557,722 (GRCm39) N268D probably benign Het
Cep152 T C 2: 125,453,020 (GRCm39) S351G probably benign Het
Chrm1 T C 19: 8,655,909 (GRCm39) C205R possibly damaging Het
Dalrd3 C A 9: 108,449,430 (GRCm39) D454E probably benign Het
Dmbt1 T C 7: 130,713,798 (GRCm39) L1622P unknown Het
Eif2s2 A G 2: 154,720,404 (GRCm39) Y172H probably benign Het
Ell T A 8: 71,031,604 (GRCm39) S101T probably damaging Het
Faf1 A G 4: 109,698,550 (GRCm39) T337A probably benign Het
Fhad1 A T 4: 141,649,735 (GRCm39) probably benign Het
Gen1 T C 12: 11,305,022 (GRCm39) probably benign Het
Gfap A G 11: 102,782,268 (GRCm39) I414T probably benign Het
Ginm1 A C 10: 7,651,019 (GRCm39) V129G probably damaging Het
Helq C T 5: 100,926,598 (GRCm39) probably benign Het
Hoxb3 A G 11: 96,237,137 (GRCm39) D405G possibly damaging Het
Hsp90aa1 A G 12: 110,659,045 (GRCm39) V584A probably damaging Het
Iglc2 T C 16: 19,017,425 (GRCm39) K59R probably benign Het
Inhba T C 13: 16,201,526 (GRCm39) S363P probably benign Het
Kif1c A G 11: 70,615,958 (GRCm39) K656E probably benign Het
Mroh4 G T 15: 74,486,171 (GRCm39) L492I possibly damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Naaladl1 C A 19: 6,155,965 (GRCm39) D46E probably damaging Het
Nbea C T 3: 55,910,359 (GRCm39) V1279I probably benign Het
Nceh1 T A 3: 27,293,726 (GRCm39) D161E possibly damaging Het
Nck2 A T 1: 43,593,510 (GRCm39) N239I Het
Nlrx1 C T 9: 44,167,644 (GRCm39) R751H probably benign Het
Or10ag54 T A 2: 87,099,695 (GRCm39) F190Y possibly damaging Het
Or8b46 A G 9: 38,450,530 (GRCm39) Y113C probably benign Het
Or8g17 C A 9: 38,930,580 (GRCm39) V86L probably benign Het
Oscar A T 7: 3,619,040 (GRCm39) C13S possibly damaging Het
Pappa2 T A 1: 158,763,979 (GRCm39) I511F probably damaging Het
Pappa2 T C 1: 158,764,518 (GRCm39) D331G possibly damaging Het
Pde4c C T 8: 71,199,515 (GRCm39) S265L possibly damaging Het
Pigl A G 11: 62,403,779 (GRCm39) Y237C probably damaging Het
Pkd1 A T 17: 24,799,421 (GRCm39) Q2880L probably benign Het
Pkhd1l1 A T 15: 44,406,768 (GRCm39) H2335L probably benign Het
Ppp1r17 A G 6: 56,008,513 (GRCm39) E151G probably damaging Het
Ppp1r27 A G 11: 120,441,849 (GRCm39) Y11H probably damaging Het
Prss54 C A 8: 96,292,137 (GRCm39) K147N possibly damaging Het
Ptchd3 T A 11: 121,732,687 (GRCm39) F526I possibly damaging Het
Ptprt T C 2: 161,608,314 (GRCm39) N661D probably benign Het
Rfpl4b T C 10: 38,697,771 (GRCm39) probably benign Het
Sdad1 T C 5: 92,439,820 (GRCm39) T402A probably benign Het
Stk32c T C 7: 138,702,859 (GRCm39) D178G probably damaging Het
Tas2r119 T C 15: 32,178,109 (GRCm39) L225P probably damaging Het
Tdpoz4 A T 3: 93,704,018 (GRCm39) E105V probably benign Het
Tlk1 A G 2: 70,552,290 (GRCm39) I520T probably damaging Het
Tmf1 A G 6: 97,152,738 (GRCm39) V445A probably benign Het
Tomm6 T C 17: 47,998,833 (GRCm39) D40G possibly damaging Het
Traf6 C A 2: 101,520,443 (GRCm39) Q164K probably benign Het
Tspoap1 A G 11: 87,670,284 (GRCm39) H150R Het
Ube2g2 A T 10: 77,479,434 (GRCm39) M126L probably benign Het
Unc45b A G 11: 82,819,515 (GRCm39) D496G probably damaging Het
Vmn1r74 A C 7: 11,580,840 (GRCm39) I47L probably benign Het
Vmn2r88 A T 14: 51,650,624 (GRCm39) L112F Het
Wwc2 A C 8: 48,373,732 (GRCm39) L45V probably damaging Het
Zfp459 A C 13: 67,556,714 (GRCm39) I123R 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
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
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'- CATGTGTGAGAACCTGGTCATC -3'
(R):5'- AAGCGACAAGGTCAACTTCC -3'

Sequencing Primer
(F):5'- ATCAGGGTGTCTCAGGCCATG -3'
(R):5'- GGTCAACTTCCAACCTATGTGTGAG -3'
Posted On 2021-10-11