Incidental Mutation 'IGL01669:Pgbd5'
ID 103420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgbd5
Ensembl Gene ENSMUSG00000050751
Gene Name piggyBac transposable element derived 5
Synonyms 2900019M05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01669
Quality Score
Status
Chromosome 8
Chromosomal Location 125095788-125161230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125101138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 373 (T373S)
Ref Sequence ENSEMBL: ENSMUSP00000120984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052580] [ENSMUST00000136892] [ENSMUST00000140012] [ENSMUST00000172566]
AlphaFold D3YZI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000052580
AA Change: T259S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: T259S

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128312
Predicted Effect possibly damaging
Transcript: ENSMUST00000136892
AA Change: T259S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: T259S

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000140012
AA Change: T373S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: T373S

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 noncoding transcript
Transcript: ENSMUST00000140126
Predicted Effect possibly damaging
Transcript: ENSMUST00000172566
AA Change: T282S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: T282S

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 141,126,184 (GRCm39) D313E probably damaging Het
Aifm3 A C 16: 17,321,405 (GRCm39) K453T probably benign Het
Anks1b T C 10: 90,733,100 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,229,840 (GRCm39) D1287G probably damaging Het
Bcl3 G A 7: 19,546,416 (GRCm39) Q140* probably null Het
Bnipl T G 3: 95,150,045 (GRCm39) R316S probably damaging Het
Cacna1i T A 15: 80,275,958 (GRCm39) H1916Q probably benign Het
Ccdc171 C T 4: 83,599,432 (GRCm39) A749V probably damaging Het
Ceacam18 G A 7: 43,294,939 (GRCm39) G333E probably damaging Het
Cul7 G T 17: 46,969,641 (GRCm39) M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 (GRCm39) T144A probably benign Het
Cyp2c50 A T 19: 40,086,495 (GRCm39) H294L probably damaging Het
D430041D05Rik T C 2: 104,085,306 (GRCm39) K1081R probably damaging Het
D930020B18Rik A G 10: 121,519,866 (GRCm39) K456R probably benign Het
Drd2 A G 9: 49,313,389 (GRCm39) N186S possibly damaging Het
Fanci A T 7: 79,098,925 (GRCm39) E1306D probably benign Het
Fbxl21 T A 13: 56,675,522 (GRCm39) probably benign Het
Galk2 T A 2: 125,729,807 (GRCm39) Y63N probably damaging Het
Git2 T C 5: 114,905,166 (GRCm39) D97G probably damaging Het
Gm8258 T A 5: 104,923,940 (GRCm39) noncoding transcript Het
Irf4 G T 13: 30,941,454 (GRCm39) S270I probably damaging Het
Itgb3 C A 11: 104,524,216 (GRCm39) probably benign Het
Itpr2 A C 6: 146,081,727 (GRCm39) I2299R probably damaging Het
Lig4 T C 8: 10,023,673 (GRCm39) I36V probably benign Het
Nedd9 A G 13: 41,492,111 (GRCm39) V133A probably damaging Het
Nup133 A C 8: 124,665,869 (GRCm39) Y185* probably null Het
Or51b6b A T 7: 103,310,194 (GRCm39) F88I probably benign Het
Or5d14 T C 2: 87,880,128 (GRCm39) Y280C possibly damaging Het
Or6c3 A G 10: 129,309,080 (GRCm39) H173R probably damaging Het
Ppp1r8 T C 4: 132,555,480 (GRCm39) E246G probably benign Het
Rmnd5b C T 11: 51,518,727 (GRCm39) V89M probably damaging Het
Rnf123 T C 9: 107,935,555 (GRCm39) I969V probably damaging Het
Ror2 A G 13: 53,265,124 (GRCm39) I656T probably damaging Het
Sgsm1 T C 5: 113,411,356 (GRCm39) E503G probably benign Het
Smgc T A 15: 91,744,882 (GRCm39) S381T possibly damaging Het
Tlr4 T G 4: 66,759,504 (GRCm39) F766V possibly damaging Het
Tnc T C 4: 63,918,938 (GRCm39) T1162A probably damaging Het
Usp39 A G 6: 72,315,476 (GRCm39) V156A probably damaging Het
Zdhhc5 A G 2: 84,521,538 (GRCm39) Y352H probably damaging Het
Zfp646 A G 7: 127,478,137 (GRCm39) T105A probably benign Het
Other mutations in Pgbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Pgbd5 APN 8 125,110,941 (GRCm39) missense probably benign 0.00
IGL01759:Pgbd5 APN 8 125,111,118 (GRCm39) missense probably damaging 1.00
IGL01762:Pgbd5 APN 8 125,097,349 (GRCm39) missense probably damaging 1.00
IGL02398:Pgbd5 APN 8 125,111,257 (GRCm39) missense probably damaging 1.00
R0348:Pgbd5 UTSW 8 125,160,771 (GRCm39) missense probably damaging 0.98
R0702:Pgbd5 UTSW 8 125,100,994 (GRCm39) missense probably benign 0.21
R0981:Pgbd5 UTSW 8 125,111,032 (GRCm39) nonsense probably null
R1259:Pgbd5 UTSW 8 125,097,324 (GRCm39) missense probably damaging 0.98
R1598:Pgbd5 UTSW 8 125,101,026 (GRCm39) missense probably benign 0.26
R1609:Pgbd5 UTSW 8 125,160,750 (GRCm39) missense probably benign 0.00
R1742:Pgbd5 UTSW 8 125,107,046 (GRCm39) missense probably damaging 1.00
R1938:Pgbd5 UTSW 8 125,100,988 (GRCm39) nonsense probably null
R1985:Pgbd5 UTSW 8 125,097,331 (GRCm39) missense probably benign 0.00
R2169:Pgbd5 UTSW 8 125,111,363 (GRCm39) critical splice acceptor site probably null
R4573:Pgbd5 UTSW 8 125,102,966 (GRCm39) nonsense probably null
R4917:Pgbd5 UTSW 8 125,097,305 (GRCm39) missense probably benign 0.14
R4918:Pgbd5 UTSW 8 125,097,305 (GRCm39) missense probably benign 0.14
R4946:Pgbd5 UTSW 8 125,097,324 (GRCm39) missense possibly damaging 0.93
R5409:Pgbd5 UTSW 8 125,098,619 (GRCm39) missense probably damaging 1.00
R5885:Pgbd5 UTSW 8 125,111,205 (GRCm39) missense probably damaging 1.00
R5946:Pgbd5 UTSW 8 125,101,056 (GRCm39) missense possibly damaging 0.83
R6907:Pgbd5 UTSW 8 125,107,021 (GRCm39) missense probably damaging 0.97
R6986:Pgbd5 UTSW 8 125,111,212 (GRCm39) missense possibly damaging 0.56
R7144:Pgbd5 UTSW 8 125,101,056 (GRCm39) missense possibly damaging 0.83
R7342:Pgbd5 UTSW 8 125,160,709 (GRCm39) missense probably benign 0.36
R7475:Pgbd5 UTSW 8 125,160,750 (GRCm39) missense probably benign 0.00
R8934:Pgbd5 UTSW 8 125,110,998 (GRCm39) missense possibly damaging 0.93
R8960:Pgbd5 UTSW 8 125,111,175 (GRCm39) missense probably benign 0.04
R9238:Pgbd5 UTSW 8 125,106,930 (GRCm39) missense probably damaging 0.96
X0067:Pgbd5 UTSW 8 125,098,651 (GRCm39) missense probably damaging 1.00
Z1188:Pgbd5 UTSW 8 125,106,955 (GRCm39) missense probably damaging 1.00
Z1190:Pgbd5 UTSW 8 125,106,955 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21