Incidental Mutation 'R9655:Pex1'
ID 735447
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R9655 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3655653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 160 (L160Q)
Ref Sequence ENSEMBL: ENSMUSP00000006061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000142516] [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 damaging
Transcript: ENSMUST00000006061
AA Change: L160Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: L160Q

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 damaging
Transcript: ENSMUST00000121291
AA Change: L160Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: L160Q

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: ENSMUST00000142516
SMART Domains Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907

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

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.5e-51 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,695 (GRCm39) I174F possibly damaging Het
Ada C A 2: 163,574,270 (GRCm39) V129F probably damaging Het
Adgrl4 G T 3: 151,248,450 (GRCm39) M707I probably damaging Het
Ahcyl A T 16: 45,974,564 (GRCm39) I271N probably damaging Het
Arrb2 A G 11: 70,331,073 (GRCm39) Q419R probably null Het
Atad2 A T 15: 57,998,303 (GRCm39) L23Q probably damaging Het
Btbd2 A T 10: 80,492,045 (GRCm39) F107Y probably benign Het
C7 T A 15: 5,041,464 (GRCm39) T481S probably damaging Het
Capn10 T A 1: 92,867,111 (GRCm39) W114R probably damaging Het
Ccdc121 C T 5: 31,644,976 (GRCm39) T243I probably benign Het
Cdc16 T A 8: 13,809,153 (GRCm39) D39E possibly damaging Het
Cfap74 A T 4: 155,522,665 (GRCm39) I684F Het
Cyp2c70 T A 19: 40,149,121 (GRCm39) N342Y possibly damaging Het
Dnah17 G A 11: 117,971,649 (GRCm39) T2128I possibly damaging Het
Dnah5 A G 15: 28,242,900 (GRCm39) N545S probably benign Het
Dnmt3c A G 2: 153,561,914 (GRCm39) N539S probably damaging Het
Elfn1 A G 5: 139,958,964 (GRCm39) E656G possibly damaging Het
Exd1 A T 2: 119,350,855 (GRCm39) C469S probably damaging Het
F5 A T 1: 164,021,730 (GRCm39) I1402F probably benign Het
Fam186a A G 15: 99,840,973 (GRCm39) L1757P probably damaging Het
Fbxo42 A T 4: 140,895,171 (GRCm39) R45W probably damaging Het
Fer1l5 T C 1: 36,460,696 (GRCm39) V1978A probably benign Het
Fpr1 T A 17: 18,097,618 (GRCm39) I124F probably damaging Het
Fry A T 5: 150,362,251 (GRCm39) D2173V possibly damaging Het
Gabbr2 G T 4: 46,815,684 (GRCm39) T228K possibly damaging Het
Galnt9 A T 5: 110,762,104 (GRCm39) Y414F probably damaging Het
Gask1a T A 9: 121,794,170 (GRCm39) L108Q probably benign Het
Ggt5 A T 10: 75,444,635 (GRCm39) M318L probably benign Het
Glod4 A C 11: 76,125,292 (GRCm39) S156A probably benign Het
Gm5431 A T 11: 48,785,799 (GRCm39) M192K probably benign Het
Golga5 C T 12: 102,446,008 (GRCm39) S421L possibly damaging Het
Gpr18 T C 14: 122,149,992 (GRCm39) D11G probably benign Het
Igf2bp3 C T 6: 49,064,338 (GRCm39) V560I probably benign Het
Igfals A G 17: 25,099,665 (GRCm39) N252S probably damaging Het
Ighv8-5 C T 12: 115,031,416 (GRCm39) C41Y probably damaging Het
Iqgap3 T A 3: 88,016,728 (GRCm39) V1070D possibly damaging Het
Kdr G A 5: 76,122,488 (GRCm39) A479V probably benign Het
Kidins220 T C 12: 25,047,295 (GRCm39) L247P probably damaging Het
Kmt5a A G 5: 124,589,393 (GRCm39) Y197C probably damaging Het
Krt33a A C 11: 99,906,624 (GRCm39) probably null Het
Mageb3 A G 2: 121,785,649 (GRCm39) S18P unknown Het
Mast1 T A 8: 85,650,660 (GRCm39) Y387F probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Med17 C T 9: 15,176,719 (GRCm39) V503M possibly damaging Het
Mpp3 A G 11: 101,899,481 (GRCm39) C347R probably benign Het
Mtr A G 13: 12,203,030 (GRCm39) L1191P probably damaging Het
Mybphl A T 3: 108,282,099 (GRCm39) I110F probably damaging Het
Nkx2-1 T A 12: 56,581,802 (GRCm39) D15V probably damaging Het
Nwd2 G A 5: 63,964,568 (GRCm39) W1384* probably null Het
Onecut1 A G 9: 74,770,330 (GRCm39) H251R possibly damaging Het
Or10ak8 T A 4: 118,773,804 (GRCm39) N287Y probably damaging Het
Or13f5 C T 4: 52,825,526 (GRCm39) T43I probably benign Het
Or51a6 A G 7: 102,604,319 (GRCm39) F163S probably damaging Het
Or8b37 A T 9: 37,959,387 (GRCm39) I290L probably benign Het
Palmd T C 3: 116,716,840 (GRCm39) *552W probably null Het
Pcdhgb2 A G 18: 37,823,285 (GRCm39) E92G probably damaging Het
Pcdhgb5 G T 18: 37,865,122 (GRCm39) E306* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phxr2 A T 10: 98,961,974 (GRCm39) S29T unknown Het
Ppargc1a A G 5: 51,705,852 (GRCm39) probably null Het
Psmb11 T C 14: 54,862,965 (GRCm39) V61A probably damaging Het
Ripor2 A T 13: 24,908,983 (GRCm39) I1034F possibly damaging Het
Rnaset2b T A 17: 7,259,134 (GRCm39) N133K probably damaging Het
Rtn4 A G 11: 29,657,504 (GRCm39) T553A probably damaging Het
Samd9l T A 6: 3,373,578 (GRCm39) T1228S probably benign Het
Sdr42e2 A G 7: 120,430,279 (GRCm39) T379A probably benign Het
Shisal2a C A 4: 108,234,616 (GRCm39) V84L possibly damaging Het
Slc1a1 C T 19: 28,870,283 (GRCm39) A94V probably damaging Het
Snx31 C T 15: 36,534,582 (GRCm39) C197Y probably damaging Het
Tbc1d4 A G 14: 101,744,567 (GRCm39) V353A probably damaging Het
Tbc1d9b A G 11: 50,059,610 (GRCm39) D1004G possibly damaging Het
Tex15 T A 8: 34,066,784 (GRCm39) Y2071* probably null Het
Tnni3k G A 3: 154,645,410 (GRCm39) R492* probably null Het
Tns2 A G 15: 102,012,933 (GRCm39) H7R probably benign Het
Top2a G T 11: 98,905,334 (GRCm39) N369K probably damaging Het
Tpbg A T 9: 85,726,252 (GRCm39) T74S probably damaging Het
Trpm6 A G 19: 18,869,466 (GRCm39) N2018D probably benign Het
Trub2 A T 2: 29,669,833 (GRCm39) probably null Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Wdr20rt A T 12: 65,273,707 (GRCm39) Q390L probably benign Het
Wdr49 T A 3: 75,240,561 (GRCm39) D436V probably damaging Het
Zfp111 C T 7: 23,898,543 (GRCm39) G357D probably damaging Het
Zfp668 A G 7: 127,466,113 (GRCm39) V357A 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
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
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'- ACGCCATTTCCCTTGAACAGC -3'
(R):5'- TGAGTTCGTATGAAGCTGCC -3'

Sequencing Primer
(F):5'- GAACAGCATCTTCTGGATCAGATTCG -3'
(R):5'- AAGCTGCCTGGTTTGTAATTCC -3'
Posted On 2022-11-14