Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Pgbd1'

410548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgbd1

Ensembl Gene

ENSMUSG00000055313

Gene Name

piggyBac transposable element derived 1

Synonyms

4921509E05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

21421275-21441058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21433439 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2016-08-02