Incidental Mutation 'IGL03136:Pgbd1'
ID410548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgbd1
Ensembl Gene ENSMUSG00000055313
Gene NamepiggyBac transposable element derived 1
Synonyms4921509E05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03136
Quality Score
Status
Chromosome13
Chromosomal Location21421275-21441058 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21433439 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 80 (V80A)
Ref Sequence ENSEMBL: ENSMUSP00000114882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099719] [ENSMUST00000122872] [ENSMUST00000145494] [ENSMUST00000148071] [ENSMUST00000151743]
Predicted Effect probably benign
Transcript: ENSMUST00000099719
AA Change: V80A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: V80A

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: V80A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: V80A

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 possibly damaging
Transcript: ENSMUST00000145494
AA Change: V80A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313
AA Change: V80A

DomainStartEndE-ValueType
Blast:SCAN 1 65 8e-15 BLAST
low complexity region 192 204 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000148071
AA Change: V80A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114882
Gene: ENSMUSG00000055313
AA Change: V80A

DomainStartEndE-ValueType
Blast:SCAN 1 65 3e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151743
AA Change: V80A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: V80A

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
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Brix1 A G 15: 10,478,766 F189S probably damaging Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Olfr974 T C 9: 39,943,036 Y259H probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pdcd6ip T A 9: 113,691,499 N139I probably damaging Het
Pigw A G 11: 84,877,777 I242T probably benign Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Slc47a2 A G 11: 61,310,765 C343R probably benign Het
Smurf2 A T 11: 106,831,048 D527E probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null Het
Other mutations in Pgbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Pgbd1 APN 13 21423253 nonsense probably null
R0206:Pgbd1 UTSW 13 21434481 missense probably damaging 0.99
R0208:Pgbd1 UTSW 13 21434481 missense probably damaging 0.99
R0420:Pgbd1 UTSW 13 21423166 missense possibly damaging 0.50
R0547:Pgbd1 UTSW 13 21423518 missense probably damaging 1.00
R0589:Pgbd1 UTSW 13 21434430 missense possibly damaging 0.92
R0854:Pgbd1 UTSW 13 21423172 missense probably damaging 0.99
R0891:Pgbd1 UTSW 13 21422800 missense probably damaging 0.97
R1589:Pgbd1 UTSW 13 21423292 missense probably damaging 0.97
R1700:Pgbd1 UTSW 13 21434481 missense probably damaging 0.99
R1815:Pgbd1 UTSW 13 21423172 missense probably damaging 0.99
R2139:Pgbd1 UTSW 13 21423020 missense probably damaging 1.00
R3776:Pgbd1 UTSW 13 21428373 missense probably benign 0.00
R3870:Pgbd1 UTSW 13 21434370 missense possibly damaging 0.95
R3871:Pgbd1 UTSW 13 21434370 missense possibly damaging 0.95
R4580:Pgbd1 UTSW 13 21428329 missense probably benign 0.07
R5644:Pgbd1 UTSW 13 21423152 missense probably damaging 0.99
R6480:Pgbd1 UTSW 13 21423476 missense probably benign 0.13
R6978:Pgbd1 UTSW 13 21423262 missense probably damaging 1.00
R7084:Pgbd1 UTSW 13 21423130 missense possibly damaging 0.59
R8351:Pgbd1 UTSW 13 21423380 missense probably benign 0.11
R8451:Pgbd1 UTSW 13 21423380 missense probably benign 0.11
Posted On2016-08-02