Incidental Mutation 'R6156:Pex6'
ID 489623
Institutional Source Beutler Lab
Gene Symbol Pex6
Ensembl Gene ENSMUSG00000002763
Gene Name peroxisomal biogenesis factor 6
Synonyms D130055I09Rik
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R6156 (G1)
Quality Score 83.0076
Status Validated
Chromosome 17
Chromosomal Location 47022402-47036469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47031567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 456 (P456S)
Ref Sequence ENSEMBL: ENSMUSP00000002840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002840]
AlphaFold Q99LC9
Predicted Effect probably benign
Transcript: ENSMUST00000002840
AA Change: P456S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: P456S

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 noncoding transcript
Transcript: ENSMUST00000127897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Pex6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Pex6 APN 17 47,036,230 (GRCm39) missense probably benign 0.00
IGL01601:Pex6 APN 17 47,034,650 (GRCm39) missense probably damaging 1.00
IGL01710:Pex6 APN 17 47,036,252 (GRCm39) unclassified probably benign
IGL02392:Pex6 APN 17 47,034,425 (GRCm39) missense probably damaging 1.00
IGL02419:Pex6 APN 17 47,035,361 (GRCm39) missense possibly damaging 0.69
G5030:Pex6 UTSW 17 47,026,382 (GRCm39) intron probably benign
R0091:Pex6 UTSW 17 47,022,844 (GRCm39) missense probably damaging 1.00
R0243:Pex6 UTSW 17 47,034,663 (GRCm39) critical splice donor site probably null
R0732:Pex6 UTSW 17 47,035,626 (GRCm39) missense probably damaging 1.00
R1529:Pex6 UTSW 17 47,024,990 (GRCm39) missense probably benign 0.10
R1602:Pex6 UTSW 17 47,023,063 (GRCm39) missense probably benign 0.09
R1638:Pex6 UTSW 17 47,033,558 (GRCm39) missense probably benign
R1757:Pex6 UTSW 17 47,034,424 (GRCm39) missense probably damaging 1.00
R3769:Pex6 UTSW 17 47,035,311 (GRCm39) splice site probably null
R4684:Pex6 UTSW 17 47,023,027 (GRCm39) missense probably benign 0.01
R4731:Pex6 UTSW 17 47,035,633 (GRCm39) splice site probably null
R4731:Pex6 UTSW 17 47,033,214 (GRCm39) missense probably benign 0.02
R4732:Pex6 UTSW 17 47,033,214 (GRCm39) missense probably benign 0.02
R4732:Pex6 UTSW 17 47,035,633 (GRCm39) splice site probably null
R4733:Pex6 UTSW 17 47,035,633 (GRCm39) splice site probably null
R4733:Pex6 UTSW 17 47,033,214 (GRCm39) missense probably benign 0.02
R4915:Pex6 UTSW 17 47,024,982 (GRCm39) missense probably damaging 0.96
R5996:Pex6 UTSW 17 47,025,384 (GRCm39) splice site probably null
R6227:Pex6 UTSW 17 47,023,034 (GRCm39) missense probably benign 0.00
R7054:Pex6 UTSW 17 47,031,447 (GRCm39) missense probably benign
R7635:Pex6 UTSW 17 47,034,943 (GRCm39) missense probably damaging 1.00
R8034:Pex6 UTSW 17 47,033,325 (GRCm39) missense possibly damaging 0.67
R8177:Pex6 UTSW 17 47,024,988 (GRCm39) missense probably benign
R8330:Pex6 UTSW 17 47,023,060 (GRCm39) missense possibly damaging 0.55
R8348:Pex6 UTSW 17 47,034,039 (GRCm39) missense probably benign
R8695:Pex6 UTSW 17 47,022,975 (GRCm39) missense probably damaging 0.97
R9263:Pex6 UTSW 17 47,023,231 (GRCm39) missense probably benign 0.16
R9428:Pex6 UTSW 17 47,022,991 (GRCm39) missense probably benign
R9600:Pex6 UTSW 17 47,035,322 (GRCm39) missense probably damaging 1.00
Z1088:Pex6 UTSW 17 47,023,148 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- ACCCTGTAGAACCTTGCTGG -3'
(R):5'- AAAGGCCAGGATGGATCTCG -3'

Sequencing Primer
(F):5'- AGAACCTTGCTGGGCTTC -3'
(R):5'- AGCTTTAGGATCAGCTGCTG -3'
Posted On 2017-10-10