Incidental Mutation 'R0208:Pgbd1'
ID 33491
Institutional Source Beutler Lab
Gene Symbol Pgbd1
Ensembl Gene ENSMUSG00000055313
Gene Name piggyBac transposable element derived 1
Synonyms 4921509E05Rik
MMRRC Submission 038461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0208 (G1)
Quality Score 166
Status Validated
Chromosome 13
Chromosomal Location 21605445-21625228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 21618651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 2 (L2R)
Ref Sequence ENSEMBL: ENSMUSP00000120175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099719] [ENSMUST00000122872] [ENSMUST00000145494] [ENSMUST00000148071] [ENSMUST00000151743]
AlphaFold E9Q492
Predicted Effect possibly damaging
Transcript: ENSMUST00000099719
AA Change: L2R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: L2R

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 damaging
Transcript: ENSMUST00000122872
AA Change: L2R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: L2R

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 damaging
Transcript: ENSMUST00000145494
AA Change: L2R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313
AA Change: L2R

DomainStartEndE-ValueType
Blast:SCAN 1 65 8e-15 BLAST
low complexity region 192 204 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000148071
AA Change: L2R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114882
Gene: ENSMUSG00000055313
AA Change: L2R

DomainStartEndE-ValueType
Blast:SCAN 1 65 3e-16 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000151743
AA Change: L2R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: L2R

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 96% (67/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Ackr4 A G 9: 103,976,860 (GRCm39) V29A probably benign Het
Adgrb1 T C 15: 74,458,656 (GRCm39) F313L probably benign Het
Arfgef2 C T 2: 166,709,342 (GRCm39) R1140W probably damaging Het
Arhgef15 A T 11: 68,837,199 (GRCm39) N797K probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Asb2 T A 12: 103,291,530 (GRCm39) N466Y possibly damaging Het
Atp8a1 A T 5: 67,932,064 (GRCm39) probably null Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdk7 G T 13: 100,843,022 (GRCm39) D202E probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Clstn3 A G 6: 124,409,128 (GRCm39) probably benign Het
Col9a2 C T 4: 120,909,485 (GRCm39) probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gcfc2 A T 6: 81,920,444 (GRCm39) S410C probably null Het
Grik3 T A 4: 125,579,958 (GRCm39) Y568N probably damaging Het
Gsr T A 8: 34,179,383 (GRCm39) D330E possibly damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hepacam2 A T 6: 3,467,505 (GRCm39) probably benign Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Idua T A 5: 108,829,618 (GRCm39) F447I probably damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mtor C A 4: 148,549,432 (GRCm39) H605Q probably benign Het
Muc19 A G 15: 91,777,218 (GRCm39) noncoding transcript Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Nptxr A T 15: 79,673,916 (GRCm39) C366S probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p73 A G 7: 108,064,750 (GRCm39) D73G probably damaging Het
Or8h9 G T 2: 86,789,748 (GRCm39) T18K probably damaging Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pde3b A G 7: 114,097,216 (GRCm39) T428A probably benign Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Polr1d A C 5: 147,015,490 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Rasip1 C A 7: 45,281,999 (GRCm39) P501T probably damaging Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Secisbp2 A G 13: 51,833,881 (GRCm39) T674A probably benign Het
Serpinb6c G A 13: 34,081,379 (GRCm39) S90L probably benign Het
Sgsm2 A G 11: 74,759,067 (GRCm39) I170T probably damaging Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Unc79 G A 12: 103,058,286 (GRCm39) V1016I probably benign Het
Usf3 C A 16: 44,037,269 (GRCm39) A583E probably damaging Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zmat4 T A 8: 24,392,083 (GRCm39) M13K probably damaging 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
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
R7084:Pgbd1 UTSW 13 21,607,300 (GRCm39) missense possibly damaging 0.59
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'- GGCACATCATGGAACCAGTGTTACC -3'
(R):5'- AGCCTTTGAGCACAGCATAGTCG -3'

Sequencing Primer
(F):5'- TCATGGAACCAGTGTTACCAAGAG -3'
(R):5'- ACTGTAGATGTTCATCTAGAAATGC -3'
Posted On 2013-05-09