Incidental Mutation 'R1953:Pex1'
ID 217454
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 039967-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R1953 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3680038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 952 (H952R)
Ref Sequence ENSEMBL: ENSMUSP00000113304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000140871]
AlphaFold Q5BL07
Predicted Effect probably damaging
Transcript: ENSMUST00000006061
AA Change: H912R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: H912R

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: H952R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: H952R

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: ENSMUST00000140871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199650
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,268,772 (GRCm39) D12E probably damaging Het
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Actr1a G A 19: 46,369,387 (GRCm39) S209F probably benign Het
Adcy1 A G 11: 7,028,991 (GRCm39) N247S probably benign Het
Anapc4 T C 5: 52,997,030 (GRCm39) L101S probably damaging Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Ascc3 T C 10: 50,721,726 (GRCm39) S2060P probably benign Het
Atp9b G A 18: 80,797,522 (GRCm39) T851I possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Bpifb9b A C 2: 154,153,234 (GRCm39) D100A probably damaging Het
Cant1 G C 11: 118,299,609 (GRCm39) P247A probably damaging Het
Capza3 A T 6: 139,988,294 (GRCm39) I298L possibly damaging Het
Cdh10 T C 15: 18,966,997 (GRCm39) probably null Het
Celsr3 T C 9: 108,720,381 (GRCm39) V2551A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cmtr2 T C 8: 110,948,551 (GRCm39) L287P probably damaging Het
Crebbp G A 16: 3,997,313 (GRCm39) T257I probably benign Het
Crispld2 G A 8: 120,742,035 (GRCm39) V128M probably damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dnah10 A G 5: 124,859,332 (GRCm39) T2043A probably benign Het
Dscaml1 C T 9: 45,581,522 (GRCm39) T447I probably benign Het
Eif2ak3 A G 6: 70,869,538 (GRCm39) T742A probably benign Het
Farp1 A G 14: 121,492,894 (GRCm39) T499A probably benign Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgd5 C A 6: 92,001,611 (GRCm39) H935Q probably benign Het
Fhl4 A T 10: 84,934,171 (GRCm39) D203E probably benign Het
Gapt T G 13: 110,490,340 (GRCm39) T108P probably damaging Het
Gpt2 A G 8: 86,248,013 (GRCm39) T419A probably benign Het
Gucy2c A G 6: 136,681,291 (GRCm39) V907A probably damaging Het
Hmbs T C 9: 44,248,741 (GRCm39) D211G probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Itfg1 A G 8: 86,557,860 (GRCm39) V170A probably benign Het
Itga2b T A 11: 102,349,009 (GRCm39) T732S probably benign Het
Klhl3 A G 13: 58,159,022 (GRCm39) Y546H probably damaging Het
Lama5 G A 2: 179,832,540 (GRCm39) H1670Y possibly damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 T C 7: 108,524,325 (GRCm39) D385G probably benign Het
Nr2e3 T A 9: 59,857,079 (GRCm39) D30V probably benign Het
Nyap1 A G 5: 137,733,294 (GRCm39) S580P probably benign Het
Or4c108 G A 2: 88,804,224 (GRCm39) Q4* probably null Het
Or4c12 A G 2: 89,774,267 (GRCm39) L64P probably damaging Het
Or4e2 T A 14: 52,688,344 (GRCm39) V158E probably benign Het
Plin4 T A 17: 56,410,849 (GRCm39) I1061F possibly damaging Het
Pnkp C A 7: 44,512,026 (GRCm39) R517S probably benign Het
Polr2e T A 10: 79,874,388 (GRCm39) E39D probably benign Het
Pramel18 T C 4: 101,767,312 (GRCm39) I187T probably benign Het
Prokr1 T C 6: 87,565,575 (GRCm39) Y90C probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rere G A 4: 150,701,294 (GRCm39) E1225K probably damaging Het
Rsl24d1 G T 9: 73,021,896 (GRCm39) probably benign Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Smad2 A G 18: 76,395,776 (GRCm39) T72A possibly damaging Het
Snx29 G A 16: 11,217,647 (GRCm39) W149* probably null Het
Stk31 G T 6: 49,423,412 (GRCm39) probably null Het
Sult1e1 T G 5: 87,735,530 (GRCm39) probably null Het
Syngap1 G A 17: 27,163,661 (GRCm39) R41H possibly damaging Het
Tbc1d17 T A 7: 44,490,822 (GRCm39) probably null Het
Tex55 G T 16: 38,648,275 (GRCm39) T278K possibly damaging Het
Tie1 A T 4: 118,329,987 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T A 7: 111,692,083 (GRCm39) D848E probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r124 T C 17: 18,283,122 (GRCm39) I272T probably benign Het
Vwa1 C T 4: 155,857,571 (GRCm39) V76M probably damaging Het
Xrn1 G T 9: 95,906,274 (GRCm39) probably null Het
Zfp667 G T 7: 6,308,087 (GRCm39) V252F probably benign Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D 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
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'- CTCAAGAATTGGTTTAGACAGGAAG -3'
(R):5'- ATTTATCCAGTCTGCCAGGCC -3'

Sequencing Primer
(F):5'- GCATGTAATTTGCTTATGTACACAC -3'
(R):5'- TCGATCAAGTCAGGGCGAC -3'
Posted On 2014-08-01