Mutagenetix > Incidental Mutation

Incidental Mutation 'R0348:Pgbd5'

35999

Institutional Source

Beutler Lab

Gene Symbol

Pgbd5

Ensembl Gene

ENSMUSG00000050751

Gene Name

piggyBac transposable element derived 5

Synonyms

2900019M05Rik

MMRRC Submission

038555-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0348 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

125095788-125161230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125160771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 32 (V32E)

Ref Sequence

ENSEMBL: ENSMUSP00000120984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052580] [ENSMUST00000140012] [ENSMUST00000172566]

AlphaFold

D3YZI9

Predicted Effect

probably benign
Transcript: ENSMUST00000052580

SMART Domains

Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751

Domain	Start	End	E-Value	Type
Pfam:DDE_Tnp_1_7	6	372	5e-86	PFAM
low complexity region	392	403	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140012
AA Change: V32E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: V32E

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
low complexity region	47	60	N/A	INTRINSIC
Pfam:DDE_Tnp_1_7	120	486	5.6e-90	PFAM
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172566

SMART Domains

Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751

Domain	Start	End	E-Value	Type
Pfam:DDE_Tnp_1_7	29	395	2e-86	PFAM
low complexity region	415	426	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: 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 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. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,987 (GRCm39)	D34G	probably benign	Het
Adam6a	T	C	12: 113,508,337 (GRCm39)	S237P	probably damaging	Het
Adamts13	A	C	2: 26,871,092 (GRCm39)	D235A	probably benign	Het
Adgb	T	A	10: 10,233,623 (GRCm39)	M1259L	probably benign	Het
Apbb1	T	C	7: 105,214,510 (GRCm39)	Q529R	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camta1	T	C	4: 151,670,888 (GRCm39)	T96A	possibly damaging	Het
Ccdc148	A	T	2: 58,894,084 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,703,240 (GRCm39)	Y568H	probably damaging	Het
Clca4b	A	T	3: 144,627,741 (GRCm39)	I410N	probably damaging	Het
Cnot10	G	A	9: 114,427,838 (GRCm39)	T592I	probably benign	Het
Col6a3	C	T	1: 90,755,771 (GRCm39)	A173T	probably damaging	Het
Ctcf	T	A	8: 106,402,789 (GRCm39)	C560*	probably null	Het
Daglb	G	A	5: 143,472,951 (GRCm39)	V369I	probably benign	Het
Defb19	G	A	2: 152,422,146 (GRCm39)	L8F	unknown	Het
Emcn	G	T	3: 137,078,608 (GRCm39)	E65*	probably null	Het
Etl4	G	T	2: 20,782,940 (GRCm39)	R753L	probably damaging	Het
Fam151b	T	C	13: 92,586,689 (GRCm39)	Y248C	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gjd4	A	G	18: 9,280,964 (GRCm39)	V38A	possibly damaging	Het
Hivep1	T	C	13: 42,311,855 (GRCm39)	V1365A	possibly damaging	Het
Hivep2	T	C	10: 14,005,702 (GRCm39)	S767P	possibly damaging	Het
Hoxa6	T	C	6: 52,183,548 (GRCm39)	T166A	possibly damaging	Het
Ift80	G	T	3: 68,843,232 (GRCm39)	L367I	probably benign	Het
Igf2bp1	T	C	11: 95,859,719 (GRCm39)	N369S	possibly damaging	Het
Igsf11	C	A	16: 38,829,179 (GRCm39)	D24E	probably benign	Het
Ints5	C	T	19: 8,873,114 (GRCm39)	L358F	probably damaging	Het
Kbtbd3	A	G	9: 4,330,519 (GRCm39)	T298A	possibly damaging	Het
Kif28	C	A	1: 179,558,818 (GRCm39)	V297F	probably damaging	Het
Krt12	T	C	11: 99,308,771 (GRCm39)	Y422C	probably damaging	Het
Lig1	T	A	7: 13,043,122 (GRCm39)	W856R	probably damaging	Het
Liph	C	T	16: 21,786,730 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,849,317 (GRCm39)	C1012*	probably null	Het
Lrit1	A	G	14: 36,782,182 (GRCm39)	E285G	probably damaging	Het
Lrrc31	A	G	3: 30,743,377 (GRCm39)	V196A	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Mllt10	T	C	2: 18,167,424 (GRCm39)	Y372H	probably damaging	Het
Mrpl50	A	T	4: 49,514,515 (GRCm39)	V52E	probably damaging	Het
Mthfd1l	T	C	10: 4,006,766 (GRCm39)	V676A	probably damaging	Het
Ncl	C	T	1: 86,284,362 (GRCm39)	D245N	possibly damaging	Het
Neil1	A	T	9: 57,054,065 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,818,827 (GRCm39)	E515G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,108 (GRCm39)	E70G	possibly damaging	Het
Nme3	A	T	17: 25,115,491 (GRCm39)	I2F	possibly damaging	Het
Nup210	G	A	6: 91,051,292 (GRCm39)	H364Y	probably benign	Het
Nxpe3	T	A	16: 55,686,898 (GRCm39)	T37S	probably benign	Het
Olfm1	T	A	2: 28,102,554 (GRCm39)	M76K	probably benign	Het
Plcb4	T	C	2: 135,810,339 (GRCm39)	M646T	probably damaging	Het
Plekha7	G	A	7: 115,757,255 (GRCm39)	P565L	probably damaging	Het
Poc5	A	G	13: 96,535,374 (GRCm39)	D213G	probably null	Het
Poli	A	G	18: 70,656,452 (GRCm39)	I125T	probably benign	Het
Ppm1f	T	C	16: 16,721,254 (GRCm39)	M1T	probably null	Het
Psmd7	T	C	8: 108,307,523 (GRCm39)	K320R	unknown	Het
Rabggtb	A	G	3: 153,615,954 (GRCm39)	V128A	probably damaging	Het
Rasa2	A	T	9: 96,454,012 (GRCm39)	L308H	probably damaging	Het
Serpina1d	C	T	12: 103,730,034 (GRCm39)	V383M	probably benign	Het
Sipa1l1	T	C	12: 82,431,530 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,740 (GRCm39)	T1006A	probably benign	Het
Sugp1	T	A	8: 70,522,658 (GRCm39)	Y453N	probably damaging	Het
Taf3	A	T	2: 10,047,455 (GRCm39)	D64E	probably benign	Het
Tcf19	A	T	17: 35,826,801 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,868 (GRCm39)	H127L	probably damaging	Het
Tubb4a	C	T	17: 57,387,770 (GRCm39)	V419M	probably damaging	Het
Vmn2r22	G	T	6: 123,614,684 (GRCm39)	T302K	probably damaging	Het
Vmn2r68	T	G	7: 84,870,884 (GRCm39)	T800P	possibly damaging	Het
Zfhx2	A	C	14: 55,300,965 (GRCm39)	V2262G	probably damaging	Het

Other mutations in Pgbd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Pgbd5	APN	8	125,110,941 (GRCm39)	missense	probably benign	0.00
IGL01669:Pgbd5	APN	8	125,101,138 (GRCm39)	missense	possibly damaging	0.86
IGL01759:Pgbd5	APN	8	125,111,118 (GRCm39)	missense	probably damaging	1.00
IGL01762:Pgbd5	APN	8	125,097,349 (GRCm39)	missense	probably damaging	1.00
IGL02398:Pgbd5	APN	8	125,111,257 (GRCm39)	missense	probably damaging	1.00
R0702:Pgbd5	UTSW	8	125,100,994 (GRCm39)	missense	probably benign	0.21
R0981:Pgbd5	UTSW	8	125,111,032 (GRCm39)	nonsense	probably null
R1259:Pgbd5	UTSW	8	125,097,324 (GRCm39)	missense	probably damaging	0.98
R1598:Pgbd5	UTSW	8	125,101,026 (GRCm39)	missense	probably benign	0.26
R1609:Pgbd5	UTSW	8	125,160,750 (GRCm39)	missense	probably benign	0.00
R1742:Pgbd5	UTSW	8	125,107,046 (GRCm39)	missense	probably damaging	1.00
R1938:Pgbd5	UTSW	8	125,100,988 (GRCm39)	nonsense	probably null
R1985:Pgbd5	UTSW	8	125,097,331 (GRCm39)	missense	probably benign	0.00
R2169:Pgbd5	UTSW	8	125,111,363 (GRCm39)	critical splice acceptor site	probably null
R4573:Pgbd5	UTSW	8	125,102,966 (GRCm39)	nonsense	probably null
R4917:Pgbd5	UTSW	8	125,097,305 (GRCm39)	missense	probably benign	0.14
R4918:Pgbd5	UTSW	8	125,097,305 (GRCm39)	missense	probably benign	0.14
R4946:Pgbd5	UTSW	8	125,097,324 (GRCm39)	missense	possibly damaging	0.93
R5409:Pgbd5	UTSW	8	125,098,619 (GRCm39)	missense	probably damaging	1.00
R5885:Pgbd5	UTSW	8	125,111,205 (GRCm39)	missense	probably damaging	1.00
R5946:Pgbd5	UTSW	8	125,101,056 (GRCm39)	missense	possibly damaging	0.83
R6907:Pgbd5	UTSW	8	125,107,021 (GRCm39)	missense	probably damaging	0.97
R6986:Pgbd5	UTSW	8	125,111,212 (GRCm39)	missense	possibly damaging	0.56
R7144:Pgbd5	UTSW	8	125,101,056 (GRCm39)	missense	possibly damaging	0.83
R7342:Pgbd5	UTSW	8	125,160,709 (GRCm39)	missense	probably benign	0.36
R7475:Pgbd5	UTSW	8	125,160,750 (GRCm39)	missense	probably benign	0.00
R8934:Pgbd5	UTSW	8	125,110,998 (GRCm39)	missense	possibly damaging	0.93
R8960:Pgbd5	UTSW	8	125,111,175 (GRCm39)	missense	probably benign	0.04
R9238:Pgbd5	UTSW	8	125,106,930 (GRCm39)	missense	probably damaging	0.96
X0067:Pgbd5	UTSW	8	125,098,651 (GRCm39)	missense	probably damaging	1.00
Z1188:Pgbd5	UTSW	8	125,106,955 (GRCm39)	missense	probably damaging	1.00
Z1190:Pgbd5	UTSW	8	125,106,955 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGTCCCTGCACCCCAGTG -3'
(R):5'- TGGGCAGCGGCTGAGTCTCTTC -3'

Sequencing Primer
(F):5'- GTCGATCCTCACCACCG -3'
(R):5'- AGCTCCAAGGCGCATCC -3'

Posted On

2013-05-09