Incidental Mutation 'IGL02398:Pgbd5'
ID291759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgbd5
Ensembl Gene ENSMUSG00000050751
Gene NamepiggyBac transposable element derived 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02398
Quality Score
Status
Chromosome8
Chromosomal Location124369049-124439658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124384518 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 54 (A54T)
Ref Sequence ENSEMBL: ENSMUSP00000133560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052580] [ENSMUST00000136892] [ENSMUST00000140012] [ENSMUST00000172566]
Predicted Effect probably damaging
Transcript: ENSMUST00000052580
AA Change: A31T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: A31T

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136892
AA Change: A31T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: A31T

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140012
AA Change: A145T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: A145T

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
low complexity region 47 60 N/A INTRINSIC
Pfam:DDE_Tnp_1_7 120 486 5.6e-90 PFAM
low complexity region 506 517 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172566
AA Change: A54T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: A54T

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 29 395 2e-86 PFAM
low complexity region 415 426 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign Het
Other mutations in Pgbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Pgbd5 APN 8 124384202 missense probably benign 0.00
IGL01669:Pgbd5 APN 8 124374399 missense possibly damaging 0.86
IGL01759:Pgbd5 APN 8 124384379 missense probably damaging 1.00
IGL01762:Pgbd5 APN 8 124370610 missense probably damaging 1.00
R0348:Pgbd5 UTSW 8 124434032 missense probably damaging 0.98
R0702:Pgbd5 UTSW 8 124374255 missense probably benign 0.21
R0981:Pgbd5 UTSW 8 124384293 nonsense probably null
R1259:Pgbd5 UTSW 8 124370585 missense probably damaging 0.98
R1598:Pgbd5 UTSW 8 124374287 missense probably benign 0.26
R1609:Pgbd5 UTSW 8 124434011 missense probably benign 0.00
R1742:Pgbd5 UTSW 8 124380307 missense probably damaging 1.00
R1938:Pgbd5 UTSW 8 124374249 nonsense probably null
R1985:Pgbd5 UTSW 8 124370592 missense probably benign 0.00
R2169:Pgbd5 UTSW 8 124384624 critical splice acceptor site probably null
R4573:Pgbd5 UTSW 8 124376227 nonsense probably null
R4917:Pgbd5 UTSW 8 124370566 missense probably benign 0.14
R4918:Pgbd5 UTSW 8 124370566 missense probably benign 0.14
R4946:Pgbd5 UTSW 8 124370585 missense possibly damaging 0.93
R5409:Pgbd5 UTSW 8 124371880 missense probably damaging 1.00
R5885:Pgbd5 UTSW 8 124384466 missense probably damaging 1.00
R5946:Pgbd5 UTSW 8 124374317 missense possibly damaging 0.83
R6907:Pgbd5 UTSW 8 124380282 missense probably damaging 0.97
R6986:Pgbd5 UTSW 8 124384473 missense possibly damaging 0.56
R7144:Pgbd5 UTSW 8 124374317 missense possibly damaging 0.83
R7342:Pgbd5 UTSW 8 124433970 missense probably benign 0.36
R7475:Pgbd5 UTSW 8 124434011 missense probably benign 0.00
X0067:Pgbd5 UTSW 8 124371912 missense probably damaging 1.00
Posted On2015-04-16