Mutagenetix > Incidental Mutation

Incidental Mutation 'R0547:Pgbd1'

44923

Institutional Source

Beutler Lab

Gene Symbol

Pgbd1

Ensembl Gene

ENSMUSG00000055313

Gene Name

piggyBac transposable element derived 1

Synonyms

4921509E05Rik

MMRRC Submission

038739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21605445-21625228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21607688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 169 (Y169H)

Ref Sequence

ENSEMBL: ENSMUSP00000117669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099719] [ENSMUST00000122872] [ENSMUST00000145494] [ENSMUST00000148071] [ENSMUST00000151743]

AlphaFold

E9Q492

Predicted Effect

probably damaging
Transcript: ENSMUST00000099719
AA Change: Y169H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: Y169H

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 damaging
Transcript: ENSMUST00000122872
AA Change: Y132H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: Y132H

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: Y169H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313
AA Change: Y169H

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Blast:SCAN	1	65	3e-16	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000151743
AA Change: Y169H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: Y169H

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

Meta Mutation Damage Score

0.1925

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	G	16: 88,570,498 (GRCm39)	Y181H	probably benign	Het
A530084C06Rik	A	G	13: 31,742,813 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,274,592 (GRCm39)	D1208G	probably benign	Het
Ankrd55	T	C	13: 112,504,757 (GRCm39)	F501S	probably benign	Het
Aox1	G	A	1: 58,349,201 (GRCm39)	D656N	probably damaging	Het
Atr	A	T	9: 95,781,218 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,706,173 (GRCm39)	R1423W	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdon	A	T	9: 35,368,794 (GRCm39)	T343S	possibly damaging	Het
Cep350	C	T	1: 155,777,181 (GRCm39)		probably null	Het
Cimap1a	A	G	7: 140,428,728 (GRCm39)		probably null	Het
Copa	T	C	1: 171,949,254 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,749,854 (GRCm39)	D265G	probably benign	Het
Dgkb	T	A	12: 38,654,157 (GRCm39)	C759S	probably benign	Het
Dnah6	T	C	6: 73,021,757 (GRCm39)	M3470V	probably benign	Het
Eif4g2	T	C	7: 110,677,500 (GRCm39)	N177S	probably damaging	Het
Etfb	C	T	7: 43,104,002 (GRCm39)	Q145*	probably null	Het
Flnb	T	A	14: 7,912,943 (GRCm38)		probably null	Het
G430095P16Rik	G	A	8: 85,453,271 (GRCm39)		probably benign	Het
Gfral	A	T	9: 76,115,924 (GRCm39)	S17T	probably benign	Het
Gpr26	T	C	7: 131,586,026 (GRCm39)	I332T	probably benign	Het
Greb1	T	A	12: 16,773,412 (GRCm39)	T221S	probably benign	Het
Haus5	A	T	7: 30,358,508 (GRCm39)	S289T	probably damaging	Het
Ighv6-4	T	C	12: 114,370,221 (GRCm39)	Y77C	probably damaging	Het
Il23r	A	T	6: 67,400,685 (GRCm39)	D548E	probably benign	Het
Il23r	A	T	6: 67,463,235 (GRCm39)	F86Y	possibly damaging	Het
Inppl1	A	T	7: 101,480,210 (GRCm39)	M424K	probably benign	Het
Jam3	A	G	9: 27,010,184 (GRCm39)	Y267H	probably damaging	Het
Lrrc37	T	C	11: 103,510,990 (GRCm39)	N326S	unknown	Het
Mms19	A	T	19: 41,951,857 (GRCm39)	M160K	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mup5	A	G	4: 61,751,237 (GRCm39)	L137P	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Ntrk2	G	A	13: 59,022,184 (GRCm39)	S413N	probably damaging	Het
Nuak2	C	A	1: 132,259,941 (GRCm39)	T573N	probably benign	Het
Or4m1	A	T	14: 50,557,575 (GRCm39)	I239K	probably benign	Het
Or52h9	G	A	7: 104,202,563 (GRCm39)	V146M	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,842,086 (GRCm39)	I4787N	unknown	Het
Pde8a	G	T	7: 80,973,878 (GRCm39)	V612L	probably benign	Het
Pear1	A	T	3: 87,696,107 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,786,448 (GRCm39)		probably benign	Het
Prkag3	C	T	1: 74,783,879 (GRCm39)		probably null	Het
Rsph9	A	T	17: 46,455,050 (GRCm39)	S9T	possibly damaging	Het
Rxfp1	A	T	3: 79,612,876 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,996,189 (GRCm39)	E756G	probably damaging	Het
Serpina1e	G	T	12: 103,915,450 (GRCm39)	T252K	probably benign	Het
Sipa1l1	T	A	12: 82,484,510 (GRCm39)	S1555T	probably benign	Het
Slain1	T	C	14: 103,932,711 (GRCm39)	S432P	probably damaging	Het
Slc37a2	A	T	9: 37,144,418 (GRCm39)		probably null	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tnn	A	G	1: 159,943,907 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Tshz3	A	G	7: 36,470,842 (GRCm39)	T944A	probably damaging	Het
Ttn	C	G	2: 76,684,774 (GRCm39)		probably benign	Het
Ythdc2	T	C	18: 44,973,331 (GRCm39)	S323P	possibly damaging	Het
Zfp827	A	G	8: 79,786,939 (GRCm39)	N35S	probably damaging	Het

Other mutations in Pgbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTGGTCCAGCTCTTCTCAGGGATG -3'
(R):5'- GCCTTTCCCAGCAAAACCAGAGTG -3'

Sequencing Primer
(F):5'- CTCAGGGATGCTGGATGC -3'
(R):5'- TTGTACTTACCCCGTGTAGAAG -3'

Posted On

2013-06-11