Incidental Mutation 'R1880:Pex1'
ID 209024
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 039901-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # R1880 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3646066-3687230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3655770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
Ref Sequence ENSEMBL: ENSMUSP00000116474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000142516] [ENSMUST00000195894]
AlphaFold Q5BL07
Predicted Effect probably benign
Transcript: ENSMUST00000006061
AA Change: V199A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: V199A

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: V199A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: V199A

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 noncoding transcript
Transcript: ENSMUST00000123268
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
AA Change: V39A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907
AA Change: V39A

DomainStartEndE-ValueType
PDB:1WLF|A 1 21 5e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143959
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: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,072,615 (GRCm39) D846G possibly damaging Het
Arhgef5 C A 6: 43,250,022 (GRCm39) Q258K possibly damaging Het
Atp10b G T 11: 43,150,259 (GRCm39) G1319V probably damaging Het
Axl T C 7: 25,473,973 (GRCm39) T315A probably damaging Het
Brd10 C A 19: 29,695,523 (GRCm39) L1323F probably benign Het
Btnl2 A G 17: 34,584,337 (GRCm39) E420G possibly damaging Het
Capn2 A G 1: 182,316,581 (GRCm39) W293R probably damaging Het
Cd209f A G 8: 4,155,464 (GRCm39) probably null Het
Cltc A G 11: 86,603,457 (GRCm39) Y790H probably damaging Het
Col1a1 A G 11: 94,841,394 (GRCm39) K1259R unknown Het
Dpysl3 A T 18: 43,462,939 (GRCm39) probably null Het
Dus4l T C 12: 31,690,869 (GRCm39) I261V probably benign Het
Ell3 T C 2: 121,270,792 (GRCm39) D247G probably benign Het
Erg G A 16: 95,178,168 (GRCm39) T246I probably benign Het
Eva1c T C 16: 90,694,303 (GRCm39) I196T possibly damaging Het
Fbxo43 T C 15: 36,162,661 (GRCm39) D182G probably benign Het
Frrs1 T C 3: 116,690,444 (GRCm39) probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gata4 G T 14: 63,442,144 (GRCm39) P20Q probably damaging Het
Gmnc T C 16: 26,784,361 (GRCm39) D48G probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Habp2 A G 19: 56,306,260 (GRCm39) I481V possibly damaging Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Hnrnpul1 A G 7: 25,432,523 (GRCm39) V380A possibly damaging Het
Hspa2 G A 12: 76,452,694 (GRCm39) D463N possibly damaging Het
Itga11 A G 9: 62,585,231 (GRCm39) D2G probably benign Het
Kel G A 6: 41,664,479 (GRCm39) L653F possibly damaging Het
Lgr5 T C 10: 115,288,184 (GRCm39) Y748C probably damaging Het
Lpxn A G 19: 12,781,452 (GRCm39) K57E probably benign Het
Ltbp2 G T 12: 84,876,045 (GRCm39) H501N probably benign Het
Macf1 G A 4: 123,332,384 (GRCm39) A2419V probably damaging Het
Map3k12 A G 15: 102,410,499 (GRCm39) probably null Het
Megf8 G A 7: 25,034,285 (GRCm39) V668I possibly damaging Het
Mmp10 T C 9: 7,505,575 (GRCm39) S280P probably benign Het
Neb C A 2: 52,148,743 (GRCm39) M2601I probably damaging Het
Nsd1 T A 13: 55,361,606 (GRCm39) N191K probably damaging Het
Or2w1 A T 13: 21,317,802 (GRCm39) N286Y probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Or5w14 C A 2: 87,541,639 (GRCm39) G204C probably damaging Het
Or6c214 A G 10: 129,591,290 (GRCm39) F10L probably benign Het
Patj C T 4: 98,385,477 (GRCm39) P364S probably benign Het
Pira13 C T 7: 3,827,950 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,388,638 (GRCm39) I1332F probably benign Het
Polq T C 16: 36,906,954 (GRCm39) V2026A possibly damaging Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Ppp4r4 T A 12: 103,571,294 (GRCm39) Y678N possibly damaging Het
Rpf2 T C 10: 40,109,154 (GRCm39) D95G possibly damaging Het
Sema3c A T 5: 17,932,464 (GRCm39) K656* probably null Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Snap25 G A 2: 136,619,305 (GRCm39) V153M probably damaging Het
Snrnp70 T C 7: 45,026,786 (GRCm39) probably null Het
Tas2r144 C T 6: 42,193,004 (GRCm39) T248I probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Usp38 T C 8: 81,727,695 (GRCm39) E346G probably damaging Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r91 A T 7: 19,835,698 (GRCm39) S206C probably damaging Het
Vps36 T C 8: 22,703,578 (GRCm39) probably null Het
Wdfy3 T C 5: 102,065,301 (GRCm39) N1289S probably benign Het
Zfp759 T C 13: 67,287,276 (GRCm39) C276R probably damaging Het
Zkscan17 G A 11: 59,378,455 (GRCm39) Q243* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ATCCAGATCGGTAGGTGATGC -3'
(R):5'- CCAAAGGAAAGCATGCTTCCG -3'

Sequencing Primer
(F):5'- GCTGTCAATCCCTGCACTAGAG -3'
(R):5'- TTCCGAGCACAGCCCAC -3'
Posted On 2014-06-30