Incidental Mutation 'R7084:Pgbd1'
ID 549778
Institutional Source Beutler Lab
Gene Symbol Pgbd1
Ensembl Gene ENSMUSG00000055313
Gene Name piggyBac transposable element derived 1
Synonyms 4921509E05Rik
MMRRC Submission 045178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7084 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 21605445-21625228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 21607300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 298 (C298S)
Ref Sequence ENSEMBL: ENSMUSP00000097307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099719] [ENSMUST00000122872] [ENSMUST00000145494] [ENSMUST00000148071] [ENSMUST00000151743]
AlphaFold E9Q492
Predicted Effect possibly damaging
Transcript: ENSMUST00000099719
AA Change: C298S

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: C298S

DomainStartEndE-ValueType
Blast:SCAN 1 65 7e-14 BLAST
low complexity region 192 204 N/A INTRINSIC
Pfam:DDE_Tnp_1_7 250 411 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122872
AA Change: C261S

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: C261S

DomainStartEndE-ValueType
Blast:SCAN 1 65 1e-13 BLAST
low complexity region 155 167 N/A INTRINSIC
Pfam:DDE_Tnp_1_7 213 374 1.4e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145494
SMART Domains Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313

DomainStartEndE-ValueType
Blast:SCAN 1 65 8e-15 BLAST
low complexity region 192 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148071
SMART Domains Protein: ENSMUSP00000114882
Gene: ENSMUSG00000055313

DomainStartEndE-ValueType
Blast:SCAN 1 65 3e-16 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000151743
AA Change: C298S

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: C298S

DomainStartEndE-ValueType
Blast:SCAN 1 65 7e-14 BLAST
low complexity region 192 204 N/A INTRINSIC
Pfam:DDE_Tnp_1_7 250 411 1.7e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, including human, 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. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,721 (GRCm39) D8E unknown Het
Abca5 T A 11: 110,192,371 (GRCm39) I714L probably benign Het
Abce1 T A 8: 80,426,043 (GRCm39) S245C probably benign Het
Abcg1 T A 17: 31,325,105 (GRCm39) D310E probably benign Het
Adhfe1 T A 1: 9,637,030 (GRCm39) I394N probably benign Het
Apob A T 12: 8,059,591 (GRCm39) D2691V probably benign Het
Arhgap18 A G 10: 26,748,734 (GRCm39) T340A possibly damaging Het
Arsb A T 13: 94,077,124 (GRCm39) Q497L probably benign Het
Asic5 T C 3: 81,919,318 (GRCm39) I354T probably benign Het
Atp6v0a1 T C 11: 100,924,868 (GRCm39) C318R probably damaging Het
Cftr T C 6: 18,226,137 (GRCm39) Y362H probably benign Het
Crip3 T C 17: 46,741,716 (GRCm39) Y113H probably benign Het
Dcaf4 AT A 12: 83,584,571 (GRCm39) probably null Het
Dock10 T A 1: 80,481,573 (GRCm39) I475F Het
Dqx1 T A 6: 83,043,436 (GRCm39) Y674N probably damaging Het
Dync2h1 G T 9: 7,113,214 (GRCm39) Q2437K possibly damaging Het
Ednra A T 8: 78,391,734 (GRCm39) C385* probably null Het
Fam216a G A 5: 122,507,623 (GRCm39) T68I probably benign Het
Fbxw22 A G 9: 109,233,291 (GRCm39) L14P probably damaging Het
Fem1al G T 11: 29,775,009 (GRCm39) H149Q probably damaging Het
Fkbp10 A G 11: 100,312,129 (GRCm39) I230V possibly damaging Het
Ggn C A 7: 28,872,423 (GRCm39) A637E probably damaging Het
Hcrtr2 T C 9: 76,137,942 (GRCm39) D391G probably benign Het
Heatr5b A T 17: 79,117,992 (GRCm39) V817D possibly damaging Het
Il1f10 G A 2: 24,183,682 (GRCm39) W120* probably null Het
Irf5 C A 6: 29,535,876 (GRCm39) R297S probably damaging Het
Jak2 A G 19: 29,263,798 (GRCm39) T438A possibly damaging Het
Jsrp1 T C 10: 80,644,410 (GRCm39) D332G possibly damaging Het
Kank4 A T 4: 98,659,582 (GRCm39) V832D probably damaging Het
Kcnip3 C T 2: 127,352,856 (GRCm39) S25N probably benign Het
Klk1b16 C T 7: 43,788,910 (GRCm39) H48Y probably benign Het
Klrh1 C A 6: 129,743,673 (GRCm39) A204S possibly damaging Het
Krtap5-4 G A 7: 141,857,609 (GRCm39) C93Y unknown Het
Lacc1 T A 14: 77,267,096 (GRCm39) Q389L probably benign Het
Lin9 C A 1: 180,515,661 (GRCm39) T477K probably benign Het
Lpar2 A T 8: 70,276,256 (GRCm39) N15I probably damaging Het
Ltbp2 C A 12: 84,915,459 (GRCm39) C200F probably damaging Het
Mall G T 2: 127,550,793 (GRCm39) H122Q probably benign Het
Mast3 T C 8: 71,232,117 (GRCm39) I1287V probably benign Het
Mindy4 T C 6: 55,255,220 (GRCm39) I566T probably benign Het
Mme T C 3: 63,235,638 (GRCm39) Y195H probably damaging Het
Mpzl1 T C 1: 165,432,267 (GRCm39) T173A probably benign Het
Mri1 G T 8: 84,977,708 (GRCm39) T209N Het
Myo1e A G 9: 70,245,083 (GRCm39) I394V probably damaging Het
Nat14 T C 7: 4,927,329 (GRCm39) V167A possibly damaging Het
Nfasc A G 1: 132,498,247 (GRCm39) Y1212H unknown Het
Nsun7 T A 5: 66,452,764 (GRCm39) L493Q probably damaging Het
Obsl1 A T 1: 75,464,394 (GRCm39) S1637R probably benign Het
Ocstamp A T 2: 165,239,957 (GRCm39) Y76* probably null Het
Or5b95 A C 19: 12,658,198 (GRCm39) H242P probably damaging Het
Or6c2b T A 10: 128,947,416 (GRCm39) K293* probably null Het
Or8b52 G A 9: 38,576,565 (GRCm39) R192C probably benign Het
Otog T A 7: 45,947,990 (GRCm39) C145* probably null Het
Padi6 T A 4: 140,468,869 (GRCm39) K5* probably null Het
Pcdha5 T A 18: 37,094,615 (GRCm39) S375T probably benign Het
Pde10a C T 17: 9,159,994 (GRCm39) P140S probably benign Het
Plch2 C T 4: 155,071,448 (GRCm39) G977D probably benign Het
Pou2f3 T C 9: 43,040,188 (GRCm39) T367A probably damaging Het
Ppm1j T A 3: 104,692,276 (GRCm39) Y352N probably damaging Het
Prkag2 T C 5: 25,226,967 (GRCm39) T97A probably benign Het
Rpl36a-ps1 T A 14: 99,231,660 (GRCm39) Y26F probably benign Het
Sctr A T 1: 119,991,001 (GRCm39) N445Y possibly damaging Het
Serping1 C T 2: 84,603,835 (GRCm39) V69I probably benign Het
Slc8a2 T A 7: 15,878,963 (GRCm39) L483Q probably benign Het
Spag17 T C 3: 99,846,586 (GRCm39) F37L probably benign Het
Srrm2 T A 17: 24,039,290 (GRCm39) M1978K probably damaging Het
Tcp11 T C 17: 28,285,995 (GRCm39) Q540R probably benign Het
Thnsl1 G T 2: 21,217,141 (GRCm39) R298S possibly damaging Het
Tigd5 T A 15: 75,782,230 (GRCm39) Y197* probably null Het
Tmprss11g A T 5: 86,640,059 (GRCm39) L203Q probably damaging Het
Trim35 T A 14: 66,546,271 (GRCm39) V346E probably damaging Het
Ttn T C 2: 76,598,708 (GRCm39) I19402V possibly damaging Het
Ttn C T 2: 76,749,689 (GRCm39) E3787K probably benign Het
Tut1 G A 19: 8,942,778 (GRCm39) V622I probably benign Het
Vmn1r2 A G 4: 3,172,134 (GRCm39) I18V probably benign Het
Zbbx T C 3: 75,046,853 (GRCm39) N22S possibly damaging Het
Zfp169 A C 13: 48,652,339 (GRCm39) M26R probably benign Het
Zfp180 T A 7: 23,804,686 (GRCm39) H368Q probably damaging Het
Zfp638 T A 6: 83,930,108 (GRCm39) S770T possibly damaging Het
Znrf1 T C 8: 112,263,774 (GRCm39) M1T probably null Het
Other mutations in Pgbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Pgbd1 APN 13 21,607,423 (GRCm39) nonsense probably null
IGL03136:Pgbd1 APN 13 21,617,609 (GRCm39) missense possibly damaging 0.46
R0206:Pgbd1 UTSW 13 21,618,651 (GRCm39) missense probably damaging 0.99
R0208:Pgbd1 UTSW 13 21,618,651 (GRCm39) missense probably damaging 0.99
R0420:Pgbd1 UTSW 13 21,607,336 (GRCm39) missense possibly damaging 0.50
R0547:Pgbd1 UTSW 13 21,607,688 (GRCm39) missense probably damaging 1.00
R0589:Pgbd1 UTSW 13 21,618,600 (GRCm39) missense possibly damaging 0.92
R0854:Pgbd1 UTSW 13 21,607,342 (GRCm39) missense probably damaging 0.99
R0891:Pgbd1 UTSW 13 21,606,970 (GRCm39) missense probably damaging 0.97
R1589:Pgbd1 UTSW 13 21,607,462 (GRCm39) missense probably damaging 0.97
R1700:Pgbd1 UTSW 13 21,618,651 (GRCm39) missense probably damaging 0.99
R1815:Pgbd1 UTSW 13 21,607,342 (GRCm39) missense probably damaging 0.99
R2139:Pgbd1 UTSW 13 21,607,190 (GRCm39) missense probably damaging 1.00
R3776:Pgbd1 UTSW 13 21,612,543 (GRCm39) missense probably benign 0.00
R3870:Pgbd1 UTSW 13 21,618,540 (GRCm39) missense possibly damaging 0.95
R3871:Pgbd1 UTSW 13 21,618,540 (GRCm39) missense possibly damaging 0.95
R4580:Pgbd1 UTSW 13 21,612,499 (GRCm39) missense probably benign 0.07
R5644:Pgbd1 UTSW 13 21,607,322 (GRCm39) missense probably damaging 0.99
R6480:Pgbd1 UTSW 13 21,607,646 (GRCm39) missense probably benign 0.13
R6978:Pgbd1 UTSW 13 21,607,432 (GRCm39) missense probably damaging 1.00
R8351:Pgbd1 UTSW 13 21,607,550 (GRCm39) missense probably benign 0.11
R8451:Pgbd1 UTSW 13 21,607,550 (GRCm39) missense probably benign 0.11
R8675:Pgbd1 UTSW 13 21,607,183 (GRCm39) missense probably damaging 1.00
R8848:Pgbd1 UTSW 13 21,607,052 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCATTTGCTTTATGAGAGGCC -3'
(R):5'- CCTAACTTTCCAAGCTGGTCAG -3'

Sequencing Primer
(F):5'- TGAGAGGCCTCAAATTTGAAAAC -3'
(R):5'- TCAGCCCTGGATTCTGGAC -3'
Posted On 2019-05-15