Incidental Mutation 'IGL02815:Pex1'
ID 360774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex1
Ensembl Gene ENSMUSG00000005907
Gene Name peroxisomal biogenesis factor 1
Synonyms peroxisome biogenesis factor 1, 5430414H02Rik, E330005K07Rik, ZWS1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # IGL02815
Quality Score
Status
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3686797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 1226 (K1226M)
Ref Sequence ENSEMBL: ENSMUSP00000006061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000007559] [ENSMUST00000121291] [ENSMUST00000140871] [ENSMUST00000196304]
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: K1226M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: K1226M

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: ENSMUST00000007559
SMART Domains Protein: ENSMUSP00000007559
Gene: ENSMUSG00000007415

DomainStartEndE-ValueType
SCOP:d1gnf__ 7 33 9e-5 SMART
low complexity region 34 83 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121291
AA Change: K1266M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: K1266M

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 probably benign
Transcript: ENSMUST00000196304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197167
Coding Region Coverage
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
1810009J06Rik A T 6: 40,941,729 (GRCm39) I3F probably benign Het
Alms1 G A 6: 85,644,939 (GRCm39) probably null Het
Ap3m1 T C 14: 21,086,750 (GRCm39) D393G probably damaging Het
Arfgef3 T A 10: 18,528,299 (GRCm39) I363F probably damaging Het
Col19a1 T A 1: 24,324,332 (GRCm39) probably null Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,226 (GRCm39) probably null Het
Emc2 T A 15: 43,371,326 (GRCm39) probably benign Het
Epm2aip1 T C 9: 111,102,628 (GRCm39) S534P probably benign Het
Farp2 A C 1: 93,488,007 (GRCm39) N78T probably damaging Het
Fut8 T A 12: 77,411,857 (GRCm39) N106K probably benign Het
Gc A G 5: 89,605,518 (GRCm39) probably null Het
Gemin5 T C 11: 58,037,235 (GRCm39) Y660C probably damaging Het
Gfpt2 T A 11: 49,714,084 (GRCm39) D280E possibly damaging Het
Il16 T C 7: 83,300,249 (GRCm39) E348G probably damaging Het
Ints1 G A 5: 139,741,037 (GRCm39) T1874M probably damaging Het
Klrb1b A G 6: 128,797,937 (GRCm39) L52P probably damaging Het
Lamb3 A T 1: 193,007,863 (GRCm39) probably benign Het
Med17 A C 9: 15,173,563 (GRCm39) M637R probably damaging Het
Myo18b A G 5: 112,957,601 (GRCm39) L1454P probably damaging Het
Mysm1 A T 4: 94,845,285 (GRCm39) probably null Het
Naip5 T C 13: 100,359,239 (GRCm39) T666A probably benign Het
Nbas T A 12: 13,360,267 (GRCm39) S348T probably damaging Het
Pi4ka A G 16: 17,176,753 (GRCm39) probably benign Het
Pigr T A 1: 130,769,558 (GRCm39) V123D probably damaging Het
Pilra G A 5: 137,829,567 (GRCm39) P163S probably benign Het
Plekha4 T C 7: 45,187,836 (GRCm39) S303P probably damaging Het
Prrc2b A G 2: 32,094,265 (GRCm39) E549G probably damaging Het
Ptchd3 C T 11: 121,732,430 (GRCm39) S440L probably benign Het
Rock2 A G 12: 17,016,702 (GRCm39) probably benign Het
Scn1a A G 2: 66,155,202 (GRCm39) S586P probably damaging Het
Slc38a6 T A 12: 73,338,979 (GRCm39) H95Q probably damaging Het
Spata31d1d A T 13: 59,874,678 (GRCm39) N952K possibly damaging Het
Stard10 T A 7: 100,993,205 (GRCm39) C254S probably benign Het
Taar8a A T 10: 23,953,278 (GRCm39) Y294F probably benign Het
Tm7sf3 A T 6: 146,514,971 (GRCm39) probably null Het
Tnfrsf8 A T 4: 145,025,348 (GRCm39) V75D possibly damaging Het
Tor1aip1 C T 1: 155,911,662 (GRCm39) R107H probably damaging Het
Trpc4 C T 3: 54,206,695 (GRCm39) probably benign Het
Unc13c A G 9: 73,447,545 (GRCm39) L1885P possibly damaging Het
Vmn2r9 T C 5: 108,990,856 (GRCm39) D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 (GRCm39) I1172F 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
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
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
Posted On 2015-12-18