Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Pgbd1'

37012

Institutional Source

Beutler Lab

Gene Symbol

Pgbd1

Ensembl Gene

ENSMUSG00000055313

Gene Name

piggyBac transposable element derived 1

Synonyms

4921509E05Rik

MMRRC Submission

038622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21605445-21625228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21607336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 286 (V286E)

Ref Sequence

ENSEMBL: ENSMUSP00000117669 (fasta)

Gene Model

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

AlphaFold

E9Q492

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099719
AA Change: V286E

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: V286E

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

possibly damaging
Transcript: ENSMUST00000122872
AA Change: V249E

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: V249E

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

probably benign
Transcript: ENSMUST00000145494

SMART Domains

Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313

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

possibly damaging
Transcript: ENSMUST00000151743
AA Change: V286E

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: V286E

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,991,050 (GRCm39)	V870A	probably benign	Het
Adam6b	A	T	12: 113,453,614 (GRCm39)	M144L	probably benign	Het
Adrb2	T	A	18: 62,312,610 (GRCm39)	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,740,674 (GRCm39)	H99L	probably damaging	Het
Ap4e1	C	T	2: 126,891,280 (GRCm39)	T17M	probably damaging	Het
Arnt	T	A	3: 95,377,705 (GRCm39)		probably benign	Het
Atp1a3	C	T	7: 24,680,052 (GRCm39)	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,729,826 (GRCm39)		probably benign	Het
Atp8a2	G	T	14: 60,011,193 (GRCm39)	T971K	probably damaging	Het
BC048562	A	T	9: 108,323,165 (GRCm39)	T167S	probably benign	Het
Brd9	A	G	13: 74,103,592 (GRCm39)	M491V	probably benign	Het
Btnl10	A	T	11: 58,814,277 (GRCm39)	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800 (GRCm38)	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,557,581 (GRCm39)		probably benign	Het
Ccm2l	A	T	2: 152,912,782 (GRCm39)	D107V	probably null	Het
Cep192	A	G	18: 67,946,964 (GRCm39)	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,984,238 (GRCm39)	N242T	probably benign	Het
Dnah17	A	G	11: 117,930,765 (GRCm39)	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,101,836 (GRCm39)	I231L	probably benign	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eya4	T	C	10: 23,031,861 (GRCm39)	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Fancd2	T	C	6: 113,513,940 (GRCm39)	L108P	probably damaging	Het
Fgf12	A	T	16: 27,981,281 (GRCm39)	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,357,654 (GRCm39)	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,412,047 (GRCm39)		probably benign	Het
Gm6434	T	A	7: 25,581,786 (GRCm39)		noncoding transcript	Het
Grik4	A	T	9: 42,533,392 (GRCm39)	L376*	probably null	Het
Gvin3	T	A	7: 106,203,090 (GRCm39)	L51F	probably damaging	Het
Gzf1	A	G	2: 148,525,753 (GRCm39)	T75A	probably benign	Het
Hcn1	T	C	13: 118,111,911 (GRCm39)	I625T	unknown	Het
Hhat	C	T	1: 192,235,242 (GRCm39)		probably null	Het
Ifit1bl1	T	C	19: 34,571,914 (GRCm39)	E181G	probably damaging	Het
Kif21a	T	C	15: 90,852,257 (GRCm39)		probably benign	Het
Lrrc45	A	C	11: 120,606,045 (GRCm39)	S118R	probably damaging	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Ms4a5	A	G	19: 11,261,018 (GRCm39)	L47S	probably damaging	Het
Mynn	A	T	3: 30,661,608 (GRCm39)	N230I	probably benign	Het
Nck2	T	C	1: 43,593,278 (GRCm39)	S162P	probably damaging	Het
Nfat5	T	C	8: 108,094,093 (GRCm39)	F259S	probably damaging	Het
Obox1	T	G	7: 15,290,178 (GRCm39)	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,470,772 (GRCm39)		probably null	Het
Phlpp2	T	C	8: 110,666,567 (GRCm39)	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,131,440 (GRCm39)	A318T	probably damaging	Het
Prex1	T	A	2: 166,431,491 (GRCm39)	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,742,595 (GRCm39)		probably null	Het
Rbbp5	T	G	1: 132,421,582 (GRCm39)	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,415,518 (GRCm39)	V173A	probably benign	Het
Sgsm1	A	T	5: 113,411,625 (GRCm39)	N700K	probably benign	Het
Slco1a8	T	G	6: 141,931,203 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,175 (GRCm39)	H188L	probably damaging	Het
Spmip11	A	G	15: 98,468,975 (GRCm39)	S17G	probably benign	Het
Supt5	T	A	7: 28,016,754 (GRCm39)		probably benign	Het
Synpo	A	G	18: 60,735,490 (GRCm39)	S819P	probably damaging	Het
Tenm2	A	G	11: 36,097,951 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,522,973 (GRCm39)	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,553,193 (GRCm39)	N83S	probably benign	Het
Tle6	T	C	10: 81,431,145 (GRCm39)		probably benign	Het
Tm2d2	T	G	8: 25,508,130 (GRCm39)	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,941,710 (GRCm39)	Q463H	probably benign	Het
Tmf1	A	G	6: 97,153,102 (GRCm39)	S324P	probably damaging	Het
Tnc	T	C	4: 63,918,396 (GRCm39)	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,489,746 (GRCm39)	C393S	probably benign	Het
Usp42	G	A	5: 143,700,616 (GRCm39)	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,389,183 (GRCm39)	M499R	probably benign	Het
Vps54	T	A	11: 21,261,071 (GRCm39)		probably benign	Het
Wdr6	C	T	9: 108,450,300 (GRCm39)	R1076H	probably benign	Het
Wdr72	T	A	9: 74,118,039 (GRCm39)	M917K	possibly damaging	Het
Wee2	T	C	6: 40,433,929 (GRCm39)	V281A	probably benign	Het
Zc3h6	A	G	2: 128,856,747 (GRCm39)	D609G	probably benign	Het
Zfp345	G	A	2: 150,315,163 (GRCm39)	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,685,236 (GRCm39)	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
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'- TCCACACCCGAGTCTTCTTGGTAAG -3'
(R):5'- ACAATGAGCCTGAGGTACAGCCTG -3'

Sequencing Primer
(F):5'- ACCAGATAGCCTTGCGTAGTTAG -3'
(R):5'- CATCCCTGAGAAGAGCTGGAC -3'

Posted On

2013-05-09