Incidental Mutation 'IGL01478:Pex6'
ID88518
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: 0.716) question?
Stock #IGL01478
Quality Score
Status
Chromosome17
Chromosomal Location46711463-46725541 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 46725304 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 976 (R976C)
Ref Sequence ENSEMBL: ENSMUSP00000002840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002840] [ENSMUST00000002846]
Predicted Effect probably benign
Transcript: ENSMUST00000002840
AA Change: R976C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: R976C

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,934,609 T613A probably benign Het
Cdh16 G T 8: 104,614,488 probably benign Het
Epn2 A G 11: 61,523,086 S419P probably benign Het
Eral1 A T 11: 78,075,732 V234D probably damaging Het
Fhad1 T C 4: 141,951,638 K576E possibly damaging Het
Frmd4b T A 6: 97,328,293 D170V probably damaging Het
Gm4353 A G 7: 116,083,740 V202A possibly damaging Het
Ighmbp2 A G 19: 3,274,531 I245T probably benign Het
Igsf23 G A 7: 19,938,236 probably benign Het
Krt1 A G 15: 101,846,286 probably benign Het
Mapk8 A G 14: 33,383,900 V371A probably benign Het
Mtrf1 T G 14: 79,402,920 probably benign Het
Myzap A G 9: 71,515,067 probably null Het
Nsrp1 C T 11: 77,050,652 V73I probably benign Het
Olfr1089 A T 2: 86,733,329 Y94* probably null Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr670 A G 7: 104,960,348 I128T probably damaging Het
Ranbp9 G A 13: 43,414,084 T546I probably benign Het
Rfx5 T C 3: 94,958,440 V350A possibly damaging Het
Rnf19b A G 4: 129,058,830 E187G probably damaging Het
Sbf1 A G 15: 89,299,743 V1217A probably damaging Het
Sfmbt1 T A 14: 30,811,521 D618E probably damaging Het
Sipa1l1 A G 12: 82,446,898 E1697G probably benign Het
Syk A G 13: 52,624,748 Y290C probably benign Het
Trim69 T C 2: 122,178,443 L328P probably damaging Het
Unc5c T A 3: 141,828,451 I911N probably damaging Het
Wdr5 T C 2: 27,533,832 V294A probably damaging Het
Other mutations in Pex6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01601:Pex6 APN 17 46723724 missense probably damaging 1.00
IGL01710:Pex6 APN 17 46725326 unclassified probably benign
IGL02392:Pex6 APN 17 46723499 missense probably damaging 1.00
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 splice site 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 46722288 missense probably benign 0.02
R4732:Pex6 UTSW 17 46724707 splice site probably null
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
R8034:Pex6 UTSW 17 46722399 missense possibly damaging 0.67
R8177:Pex6 UTSW 17 46714062 missense probably benign
R8330:Pex6 UTSW 17 46712134 missense possibly damaging 0.55
R8348:Pex6 UTSW 17 46723113 missense probably benign
R8695:Pex6 UTSW 17 46712049 missense probably damaging 0.97
Z1088:Pex6 UTSW 17 46712222 missense possibly damaging 0.87
Posted On2013-11-18