Incidental Mutation 'IGL02392:Pex6'
ID294289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex6
Ensembl Gene ENSMUSG00000002763
Gene Nameperoxisomal biogenesis factor 6
SynonymsD130055I09Rik
Accession Numbers

Genbank: NM_145488; Ensembl: ENSMUSP00000002840

Is this an essential gene? Possibly essential (E-score: 0.693) question?
Stock #IGL02392
Quality Score
Status
Chromosome17
Chromosomal Location46711463-46725541 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46723499 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 758 (V758A)
Ref Sequence ENSEMBL: ENSMUSP00000002840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002840] [ENSMUST00000002846]
Predicted Effect probably damaging
Transcript: ENSMUST00000002840
AA Change: V758A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: V758A

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
low complexity region 72 86 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 112 128 N/A INTRINSIC
low complexity region 173 200 N/A INTRINSIC
AAA 463 598 6.1e-7 SMART
AAA 737 875 6e-24 SMART
Blast:AAA 928 973 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000002846
SMART Domains Protein: ENSMUSP00000002846
Gene: ENSMUSG00000002769

DomainStartEndE-ValueType
Pfam:Methyltransf_23 27 217 9e-11 PFAM
Pfam:Methyltransf_31 56 224 1.3e-15 PFAM
Pfam:Methyltransf_18 57 176 1.5e-15 PFAM
Pfam:Methyltransf_25 61 169 1.4e-10 PFAM
Pfam:Methyltransf_12 62 171 4e-12 PFAM
Pfam:Methyltransf_11 62 173 2.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
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 (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
C2cd6 T C 1: 59,094,838 N8S probably benign Het
Cdh8 G A 8: 99,030,755 T737M probably damaging Het
Celsr3 T C 9: 108,834,721 probably benign Het
Cenph T A 13: 100,772,761 Q46L probably benign Het
Dlg5 A G 14: 24,150,209 C1395R probably damaging Het
Dnah8 C T 17: 30,818,051 probably benign Het
Dolk T C 2: 30,285,728 N102D probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Farp2 G A 1: 93,577,650 R368Q probably damaging Het
Fermt3 A T 19: 7,018,815 M4K probably benign Het
Fndc8 A C 11: 82,898,603 T196P probably damaging Het
Galc G A 12: 98,207,413 T630I probably damaging Het
Gm21970 T G 16: 91,414,657 S128A possibly damaging Het
Gpr146 T C 5: 139,392,778 S112P probably damaging Het
Grip2 A G 6: 91,787,295 S51P probably damaging Het
Htra2 G T 6: 83,054,299 T43N possibly damaging Het
Lnpep T C 17: 17,579,183 Y70C possibly damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mtdh A T 15: 34,099,577 N158Y probably damaging Het
Neo1 A T 9: 58,925,811 H550Q possibly damaging Het
Olfr480 A C 7: 108,066,503 F68L probably benign Het
Olfr93 C T 17: 37,151,088 V295I probably benign Het
Pex1 C T 5: 3,605,952 Q260* probably null Het
Ppil2 T C 16: 17,088,838 T500A probably benign Het
Qsox1 T C 1: 155,812,600 E67G probably damaging Het
Rimbp2 C T 5: 128,771,797 S895N probably benign Het
Rnls A G 19: 33,202,612 V28A possibly damaging Het
Spidr T C 16: 15,889,630 *934W probably null Het
Spta1 A T 1: 174,218,814 M1654L probably damaging Het
Srbd1 C A 17: 85,988,373 V870F probably benign Het
Suco A T 1: 161,834,567 M765K probably benign Het
Taok1 A G 11: 77,549,352 Y610H probably benign Het
Thbs1 A G 2: 118,114,660 N238S probably benign Het
Them7 T A 2: 105,378,875 L180* probably null Het
Trim45 A G 3: 100,925,305 I285V probably benign Het
Trim66 T C 7: 109,460,274 K921R probably benign Het
Ttn A G 2: 76,771,543 S10265P probably damaging Het
Vgll3 A T 16: 65,815,670 Y13F probably damaging Het
Ylpm1 T A 12: 85,014,957 M544K unknown Het
Zmym1 T A 4: 127,048,463 S711C probably damaging Het
Other mutations in Pex6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Pex6 APN 17 46725304 missense probably benign 0.00
IGL01601:Pex6 APN 17 46723724 missense probably damaging 1.00
IGL01710:Pex6 APN 17 46725326 unclassified probably benign
IGL02419:Pex6 APN 17 46724435 missense possibly damaging 0.69
G5030:Pex6 UTSW 17 46715456 intron probably benign
R0091:Pex6 UTSW 17 46711918 missense probably damaging 1.00
R0243:Pex6 UTSW 17 46723737 critical splice donor site probably null
R0732:Pex6 UTSW 17 46724700 missense probably damaging 1.00
R1529:Pex6 UTSW 17 46714064 missense probably benign 0.10
R1602:Pex6 UTSW 17 46712137 missense probably benign 0.09
R1638:Pex6 UTSW 17 46722632 missense probably benign
R1757:Pex6 UTSW 17 46723498 missense probably damaging 1.00
R3769:Pex6 UTSW 17 46724385 unclassified probably null
R4684:Pex6 UTSW 17 46712101 missense probably benign 0.01
R4731:Pex6 UTSW 17 46722288 missense probably benign 0.02
R4731:Pex6 UTSW 17 46724707 splice site probably null
R4732:Pex6 UTSW 17 46724707 splice site probably null
R4732:Pex6 UTSW 17 46722288 missense probably benign 0.02
R4733:Pex6 UTSW 17 46722288 missense probably benign 0.02
R4733:Pex6 UTSW 17 46724707 splice site probably null
R4915:Pex6 UTSW 17 46714056 missense probably damaging 0.96
R5996:Pex6 UTSW 17 46714458 splice site probably null
R6156:Pex6 UTSW 17 46720641 missense probably benign 0.02
R6227:Pex6 UTSW 17 46712108 missense probably benign 0.00
R7054:Pex6 UTSW 17 46720521 missense probably benign
R7635:Pex6 UTSW 17 46724017 missense probably damaging 1.00
Z1088:Pex6 UTSW 17 46712222 missense possibly damaging 0.87
Posted On2015-04-16