Incidental Mutation 'R3946:Pex1'
ID 307699
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 040827-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R3946 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3676084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 891 (L891F)
Ref Sequence ENSEMBL: ENSMUSP00000113304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000143132] [ENSMUST00000195894]
AlphaFold Q5BL07
Predicted Effect probably damaging
Transcript: ENSMUST00000006061
AA Change: L851F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: L851F

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: L891F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: L891F

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 98% (60/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,492,913 (GRCm39) Q328R probably damaging Het
Agr3 C A 12: 35,997,512 (GRCm39) probably benign Het
Brca2 T A 5: 150,460,169 (GRCm39) S481R probably damaging Het
Cabin1 T G 10: 75,581,093 (GRCm39) Q411P probably damaging Het
Calr3 A G 8: 73,197,464 (GRCm39) Y22H probably damaging Het
Caprin1 T A 2: 103,627,111 (GRCm39) I59F probably damaging Het
Cdk5rap1 T C 2: 154,190,636 (GRCm39) T442A probably damaging Het
Chn2 T C 6: 54,246,411 (GRCm39) probably benign Het
Cic C A 7: 24,971,771 (GRCm39) R501S possibly damaging Het
Coch A G 12: 51,648,595 (GRCm39) probably null Het
Defa25 G A 8: 21,574,506 (GRCm39) V17I probably null Het
Dglucy T C 12: 100,804,959 (GRCm39) probably null Het
Dtx1 T G 5: 120,819,351 (GRCm39) T616P possibly damaging Het
Eef1g T C 19: 8,947,341 (GRCm39) L171P probably benign Het
Fam135a A G 1: 24,069,475 (GRCm39) S465P probably damaging Het
Gm14412 A T 2: 177,006,478 (GRCm39) C472* probably null Het
Gm7104 T C 12: 88,252,812 (GRCm39) noncoding transcript Het
Got2 A G 8: 96,614,858 (GRCm39) S26P probably benign Het
H2-M11 A G 17: 36,860,123 (GRCm39) I329M probably damaging Het
Hmcn2 T A 2: 31,272,406 (GRCm39) D1295E possibly damaging Het
Hoxd12 G T 2: 74,505,771 (GRCm39) R114L probably damaging Het
Ilkap A C 1: 91,314,972 (GRCm39) D124E probably damaging Het
Maco1 A G 4: 134,531,792 (GRCm39) Y626H probably damaging Het
Med6 T C 12: 81,628,625 (GRCm39) Y88C probably damaging Het
Mep1a A T 17: 43,785,932 (GRCm39) L719* probably null Het
Mmp23 T C 4: 155,736,480 (GRCm39) Y187C probably damaging Het
Myo1g A G 11: 6,470,760 (GRCm39) M32T possibly damaging Het
Ncstn T C 1: 171,895,061 (GRCm39) E614G probably benign Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or4f15 G A 2: 111,813,642 (GRCm39) T259M possibly damaging Het
Otub2 T A 12: 103,359,085 (GRCm39) L58* probably null Het
Pcdhga12 G A 18: 37,900,682 (GRCm39) V505I probably benign Het
Pcdhga9 T A 18: 37,870,897 (GRCm39) V242D probably damaging Het
Pgm2 C T 5: 64,269,404 (GRCm39) T497I probably benign Het
Pikfyve T C 1: 65,235,840 (GRCm39) F171L probably damaging Het
Pilrb1 T G 5: 137,855,654 (GRCm39) K79T probably benign Het
Pin1 C T 9: 20,566,660 (GRCm39) R21W probably damaging Het
Prxl2c T C 13: 64,456,912 (GRCm39) I104V probably damaging Het
Ptprq A G 10: 107,522,253 (GRCm39) probably benign Het
Rad17 G A 13: 100,759,371 (GRCm39) A552V possibly damaging Het
Rbbp8 A G 18: 11,851,925 (GRCm39) T249A probably benign Het
Rtkn A T 6: 83,112,957 (GRCm39) I10F probably benign Het
Scube2 T A 7: 109,456,797 (GRCm39) I103F possibly damaging Het
Sec23b A G 2: 144,423,893 (GRCm39) H514R probably benign Het
Serbp1 T A 6: 67,249,204 (GRCm39) D223E probably benign Het
Slc14a1 C A 18: 78,154,607 (GRCm39) V260L probably benign Het
Slc22a23 A G 13: 34,367,109 (GRCm39) I633T probably damaging Het
Stk19 A T 17: 35,043,723 (GRCm39) probably benign Het
Svs5 T C 2: 164,079,047 (GRCm39) M287V probably benign Het
Syne3 T A 12: 104,924,325 (GRCm39) Q358L probably damaging Het
Synj1 A G 16: 90,806,984 (GRCm39) F58L possibly damaging Het
Tg T C 15: 66,545,872 (GRCm39) V198A probably damaging Het
Tle4 A T 19: 14,574,752 (GRCm39) Y9N probably damaging Het
Tmx3 G A 18: 90,542,459 (GRCm39) A186T possibly damaging Het
Traf3 G A 12: 111,221,679 (GRCm39) S280N possibly damaging Het
Trmt13 A G 3: 116,375,167 (GRCm39) F447S probably damaging Het
Trp53bp1 T A 2: 121,059,107 (GRCm39) H918L probably damaging Het
Ush2a T G 1: 188,460,701 (GRCm39) V2654G probably benign Het
Vinac1 A G 2: 128,881,521 (GRCm39) L135P probably damaging Het
Vmn2r25 A G 6: 123,817,057 (GRCm39) Y175H probably damaging Het
Zfp335 T C 2: 164,734,109 (GRCm39) D1330G 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
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'- CTGTACACTGTGTTCATGCAAG -3'
(R):5'- GTCCCATGGCATGCTTGTTG -3'

Sequencing Primer
(F):5'- GGGTGGCTAGGttgttt -3'
(R):5'- GAGGGACACATGTTACCTGATTCC -3'
Posted On 2015-04-17