Incidental Mutation 'R7475:Pgbd5'
ID 579422
Institutional Source Beutler Lab
Gene Symbol Pgbd5
Ensembl Gene ENSMUSG00000050751
Gene Name piggyBac transposable element derived 5
Synonyms 2900019M05Rik
MMRRC Submission 045549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125095788-125161230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125160750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000120984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052580] [ENSMUST00000140012] [ENSMUST00000172566]
AlphaFold D3YZI9
Predicted Effect probably benign
Transcript: ENSMUST00000052580
SMART Domains Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140012
AA Change: D39G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: D39G

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 benign
Transcript: ENSMUST00000172566
SMART Domains Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 29 395 2e-86 PFAM
low complexity region 415 426 N/A INTRINSIC
Meta Mutation Damage Score 0.0770 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,739 (GRCm39) N214K probably benign Het
Abcf1 A G 17: 36,274,459 (GRCm39) probably null Het
Agxt2 A T 15: 10,409,623 (GRCm39) M508L probably benign Het
Akr1c21 A T 13: 4,626,318 (GRCm39) Y114F probably benign Het
Amz1 T C 5: 140,729,941 (GRCm39) probably null Het
Ank1 G T 8: 23,622,646 (GRCm39) A1732S probably benign Het
Atg16l1 T C 1: 87,687,805 (GRCm39) S50P possibly damaging Het
AW551984 A G 9: 39,509,236 (GRCm39) S302P probably damaging Het
Ccn6 T A 10: 39,034,296 (GRCm39) Y102F probably damaging Het
Ces3a T A 8: 105,780,322 (GRCm39) probably null Het
Dedd C A 1: 171,167,881 (GRCm39) P185Q probably benign Het
Fam186a A T 15: 99,845,395 (GRCm39) V283E unknown Het
Fat2 C A 11: 55,194,479 (GRCm39) V1187F probably benign Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fcgbp C T 7: 27,802,401 (GRCm39) T1443I probably damaging Het
Foxj2 A G 6: 122,814,801 (GRCm39) D279G probably benign Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm49368 A T 7: 127,707,154 (GRCm39) T661S possibly damaging Het
Gria4 T G 9: 4,513,330 (GRCm39) T260P probably damaging Het
Gtf2ird2 T A 5: 134,230,267 (GRCm39) D195E possibly damaging Het
Hectd4 T A 5: 121,496,196 (GRCm39) probably null Het
Ifngr2 G A 16: 91,354,797 (GRCm39) C32Y unknown Het
Ikzf5 A T 7: 130,993,788 (GRCm39) C280S probably benign Het
Ints9 G T 14: 65,263,914 (GRCm39) E395D probably null Het
Isoc2b T C 7: 4,854,084 (GRCm39) D96G probably benign Het
Jmjd1c T G 10: 67,061,092 (GRCm39) S967R probably benign Het
Kcnj3 A T 2: 55,327,338 (GRCm39) K42N probably benign Het
Kiz T C 2: 146,733,006 (GRCm39) V394A possibly damaging Het
Knl1 A T 2: 118,918,027 (GRCm39) H1795L probably damaging Het
Lmntd2 A G 7: 140,790,602 (GRCm39) probably null Het
Loxhd1 C A 18: 77,500,001 (GRCm39) D1690E possibly damaging Het
Lrp1b T C 2: 41,234,588 (GRCm39) D1121G Het
Map3k2 T C 18: 32,333,015 (GRCm39) V63A possibly damaging Het
Mcc G T 18: 44,609,303 (GRCm39) A499D probably damaging Het
Mcpt9 T A 14: 56,264,400 (GRCm39) I232F probably damaging Het
Meltf A G 16: 31,700,756 (GRCm39) K92R probably benign Het
Mff T A 1: 82,723,159 (GRCm39) probably null Het
Mrgpra3 T A 7: 47,239,695 (GRCm39) Y77F probably damaging Het
Mylk G A 16: 34,734,446 (GRCm39) probably null Het
Ndufv2 A G 17: 66,394,532 (GRCm39) V111A possibly damaging Het
Nkd2 T C 13: 73,973,861 (GRCm39) E99G probably damaging Het
Nlk C A 11: 78,474,225 (GRCm39) G358V probably damaging Het
Nnmt A T 9: 48,503,532 (GRCm39) C165S probably damaging Het
Nxpe4 T A 9: 48,304,640 (GRCm39) C242* probably null Het
Oas1b A T 5: 120,955,705 (GRCm39) N162I probably damaging Het
Or4s2 A G 2: 88,473,554 (GRCm39) I148V probably benign Het
Otog A G 7: 45,916,700 (GRCm39) N879S probably damaging Het
Pcsk7 T A 9: 45,838,923 (GRCm39) Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,368,581 (GRCm39) Q800* probably null Het
Pkn3 T C 2: 29,977,122 (GRCm39) S621P probably benign Het
Polr3c T C 3: 96,622,501 (GRCm39) I385V probably benign Het
Ppp1r21 G T 17: 88,863,031 (GRCm39) G257W probably benign Het
Prkn A G 17: 11,653,501 (GRCm39) D199G probably benign Het
Pxylp1 C T 9: 96,738,420 (GRCm39) probably null Het
Rasgrp1 T C 2: 117,116,589 (GRCm39) T613A probably benign Het
Robo3 C T 9: 37,336,674 (GRCm39) V387I probably benign Het
Rxfp2 T A 5: 149,973,046 (GRCm39) Y174N possibly damaging Het
Sec24a T C 11: 51,604,379 (GRCm39) M746V probably damaging Het
Sema4f T A 6: 82,891,355 (GRCm39) E571D possibly damaging Het
Septin3 T C 15: 82,170,657 (GRCm39) V217A probably benign Het
Serpinb1b A C 13: 33,277,548 (GRCm39) K260N probably benign Het
Sin3b A G 8: 73,476,500 (GRCm39) T645A possibly damaging Het
Sobp C T 10: 42,897,830 (GRCm39) R585Q probably damaging Het
Specc1l T A 10: 75,082,281 (GRCm39) L559Q possibly damaging Het
Srxn1 C T 2: 151,947,573 (GRCm39) probably benign Het
Sspo G A 6: 48,432,794 (GRCm39) R890Q probably benign Het
Stard9 A G 2: 120,518,591 (GRCm39) D505G probably damaging Het
Tjp1 A T 7: 64,972,087 (GRCm39) I653K probably damaging Het
Tnks C T 8: 35,298,866 (GRCm39) E1296K probably damaging Het
Ttbk2 A T 2: 120,579,121 (GRCm39) I667N probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Usp46 T A 5: 74,189,598 (GRCm39) K109* probably null Het
Vmn1r191 A G 13: 22,362,942 (GRCm39) C271R probably benign Het
Zfp592 T C 7: 80,673,200 (GRCm39) S55P probably damaging Het
Zmynd15 T C 11: 70,351,867 (GRCm39) S158P probably benign Het
Zscan22 T G 7: 12,640,664 (GRCm39) C303G probably damaging Het
Other mutations in Pgbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Pgbd5 APN 8 125,110,941 (GRCm39) missense probably benign 0.00
IGL01669:Pgbd5 APN 8 125,101,138 (GRCm39) missense possibly damaging 0.86
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
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
Predicted Primers PCR Primer
(F):5'- ACCACCGGTGTCCTCGAAG -3'
(R):5'- CAGCGGCTGAGTCTCTTCC -3'

Sequencing Primer
(F):5'- GATCCCTCAGCACGGCG -3'
(R):5'- AGCTCCAAGGCGCATCC -3'
Posted On 2019-10-07