Incidental Mutation 'IGL01733:Pex16'
ID105584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex16
Ensembl Gene ENSMUSG00000027222
Gene Nameperoxisomal biogenesis factor 16
Synonymsperoxisome biogenesis factor 16
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.843) question?
Stock #IGL01733
Quality Score
Status
Chromosome2
Chromosomal Location92374676-92381217 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 92378828 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 192 (P192S)
Ref Sequence ENSEMBL: ENSMUSP00000028650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000050312] [ENSMUST00000054316] [ENSMUST00000111279] [ENSMUST00000111280] [ENSMUST00000176339] [ENSMUST00000191292]
Predicted Effect probably damaging
Transcript: ENSMUST00000028650
AA Change: P192S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222
AA Change: P192S

DomainStartEndE-ValueType
Pfam:Pex16 9 329 1.3e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050312
SMART Domains Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 38 51 N/A INTRINSIC
low complexity region 71 87 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
low complexity region 242 254 N/A INTRINSIC
low complexity region 462 477 N/A INTRINSIC
SH3 487 544 2.62e-11 SMART
PTB 558 700 1.2e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054316
SMART Domains Protein: ENSMUSP00000051464
Gene: ENSMUSG00000044916

DomainStartEndE-ValueType
Pfam:DUF4733 4 97 7.7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111279
SMART Domains Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
low complexity region 62 78 N/A INTRINSIC
low complexity region 89 110 N/A INTRINSIC
low complexity region 233 245 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
SH3 478 535 2.62e-11 SMART
PTB 549 691 1.2e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111280
SMART Domains Protein: ENSMUSP00000106911
Gene: ENSMUSG00000044916

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155891
Predicted Effect probably benign
Transcript: ENSMUST00000176339
SMART Domains Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
transmembrane domain 31 50 N/A INTRINSIC
low complexity region 74 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189714
Predicted Effect probably benign
Transcript: ENSMUST00000191292
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 C T 15: 91,191,614 probably benign Het
Aco1 T G 4: 40,175,738 probably benign Het
Brinp3 T C 1: 146,514,803 V29A probably benign Het
Brsk1 T C 7: 4,706,072 Y361H probably damaging Het
Ccdc178 G T 18: 22,024,812 probably benign Het
Ces1f A G 8: 93,270,014 I217T probably damaging Het
Col6a6 T A 9: 105,709,255 T1856S possibly damaging Het
Cuedc2 C A 19: 46,332,673 V7F probably damaging Het
Cyp2d34 C T 15: 82,618,660 V122M possibly damaging Het
Ddx60 T C 8: 61,983,865 S949P probably damaging Het
Dlg5 G A 14: 24,170,449 R554W probably damaging Het
Fig4 A T 10: 41,277,393 N137K possibly damaging Het
Gpr155 C T 2: 73,353,612 probably null Het
Grk6 A C 13: 55,451,391 N168T possibly damaging Het
Hfe T G 13: 23,706,865 K97T possibly damaging Het
Hsd3b2 C T 3: 98,716,485 E26K probably damaging Het
Impg1 A G 9: 80,341,924 S666P probably damaging Het
Itpkb T G 1: 180,333,169 S287A possibly damaging Het
Kcnh5 T C 12: 74,965,192 D651G probably benign Het
Lemd3 C T 10: 120,933,663 W588* probably null Het
Lepr A G 4: 101,765,082 T404A probably benign Het
Metap1d A G 2: 71,511,433 I124V probably damaging Het
Mrpl33 T C 5: 31,622,389 V54A probably benign Het
Mybl1 A T 1: 9,685,710 S205T possibly damaging Het
Mybpc2 T A 7: 44,506,198 D877V probably benign Het
Nxph2 T C 2: 23,400,125 V163A probably benign Het
Pakap G T 4: 57,856,488 V606L probably benign Het
Ptprq C A 10: 107,662,599 M872I probably benign Het
Ripor1 C T 8: 105,615,746 R150W possibly damaging Het
Spns2 A T 11: 72,456,510 V423E possibly damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Stoml3 A G 3: 53,498,127 I50V probably benign Het
Taar8c A G 10: 24,101,257 I219T possibly damaging Het
Ubap2 A C 4: 41,195,862 probably benign Het
Zfat T C 15: 68,180,730 D398G probably damaging Het
Other mutations in Pex16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Pex16 APN 2 92379235 missense probably benign 0.01
IGL02642:Pex16 APN 2 92376636 missense probably damaging 1.00
IGL03350:Pex16 APN 2 92377497 missense probably damaging 0.97
R0143:Pex16 UTSW 2 92380457 missense probably damaging 1.00
R0226:Pex16 UTSW 2 92375687 unclassified probably benign
R0278:Pex16 UTSW 2 92381056 missense probably damaging 1.00
R0375:Pex16 UTSW 2 92380457 missense probably damaging 1.00
R0437:Pex16 UTSW 2 92375592 missense probably damaging 1.00
R0540:Pex16 UTSW 2 92375637 nonsense probably null
R4809:Pex16 UTSW 2 92376638 missense probably damaging 1.00
R4841:Pex16 UTSW 2 92379199 splice site probably null
R4952:Pex16 UTSW 2 92379060 nonsense probably null
R5382:Pex16 UTSW 2 92377530 missense possibly damaging 0.85
R8144:Pex16 UTSW 2 92375640 missense probably damaging 1.00
Posted On2014-01-21