Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Pgbd5'

153527

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgbd5

Ensembl Gene

ENSMUSG00000050751

Gene Name

piggyBac transposable element derived 5

Synonyms

2900019M05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

125095788-125161230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125111118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 191 (G191D)

Ref Sequence

ENSEMBL: ENSMUSP00000120984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052580] [ENSMUST00000136892] [ENSMUST00000140012] [ENSMUST00000172566]

AlphaFold

D3YZI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000052580
AA Change: G77D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: G77D

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: ENSMUST00000136892
AA Change: G77D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: G77D

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: G191D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: G191D

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

possibly damaging
Transcript: ENSMUST00000172566
AA Change: G100D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: G100D

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,726,625 (GRCm39)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,131,139 (GRCm39)	I277N	probably damaging	Het
Ap1b1	C	T	11: 4,969,433 (GRCm39)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm39)	V313L	probably damaging	Het
Car2	G	A	3: 14,960,688 (GRCm39)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm39)		probably benign	Het
Cep295	A	G	9: 15,234,855 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,750,936 (GRCm39)	K27E	probably damaging	Het
Cops5	A	T	1: 10,097,474 (GRCm39)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,404,509 (GRCm39)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,832,850 (GRCm39)	F861Y	probably benign	Het
Dock10	T	C	1: 80,503,990 (GRCm39)	E1777G	probably damaging	Het
Dock5	G	A	14: 68,118,708 (GRCm39)	Q23*	probably null	Het
Ermp1	T	C	19: 29,593,236 (GRCm39)	K752R	probably benign	Het
Fhip1a	A	C	3: 85,595,754 (GRCm39)	I377S	probably damaging	Het
Gjd2	T	A	2: 113,841,587 (GRCm39)	I297L	probably benign	Het
Gm1123	T	C	9: 98,905,307 (GRCm39)	M68V	probably benign	Het
Gm28372	C	T	2: 130,248,818 (GRCm39)	R59W	probably damaging	Het
Gm9912	A	C	3: 148,891,074 (GRCm39)	F20V	unknown	Het
Gpat2	T	C	2: 127,272,816 (GRCm39)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,203,784 (GRCm39)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,568,269 (GRCm39)	D40V	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Jakmip3	A	T	7: 138,622,633 (GRCm39)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm39)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm39)		probably benign	Het
Krt14	A	T	11: 100,095,242 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,207,798 (GRCm39)	F307S	unknown	Het
Laptm4a	T	C	12: 8,984,687 (GRCm39)		probably benign	Het
Marveld3	T	C	8: 110,674,719 (GRCm39)	S366G	possibly damaging	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,569,292 (GRCm39)	N54S	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Myh1	A	G	11: 67,110,732 (GRCm39)	D1518G	probably damaging	Het
Myoz2	A	T	3: 122,807,430 (GRCm39)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,167,438 (GRCm39)	W273L	probably benign	Het
Nol9	C	T	4: 152,130,500 (GRCm39)		probably benign	Het
Nrxn2	T	C	19: 6,559,959 (GRCm39)	V1206A	probably damaging	Het
Or2ag1b	T	C	7: 106,288,540 (GRCm39)	T133A	probably benign	Het
Or5k16	A	T	16: 58,736,291 (GRCm39)	F238I	probably damaging	Het
Or6c5	T	A	10: 129,074,941 (GRCm39)	F308I	probably benign	Het
Or6f2	T	C	7: 139,756,447 (GRCm39)	I138T	probably benign	Het
Or8g2b	T	A	9: 39,750,907 (GRCm39)	M59K	probably damaging	Het
Pappa	T	C	4: 65,123,395 (GRCm39)		probably null	Het
Pfkl	A	G	10: 77,836,565 (GRCm39)	S151P	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,082,241 (GRCm39)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,003,502 (GRCm39)	V386L	probably benign	Het
S1pr3	G	A	13: 51,573,548 (GRCm39)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Slc6a4	T	C	11: 76,904,114 (GRCm39)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,087,779 (GRCm39)		probably null	Het
Tbc1d14	C	A	5: 36,728,913 (GRCm39)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,897,826 (GRCm39)		probably benign	Het
Tmem219	G	A	7: 126,496,310 (GRCm39)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Ugp2	T	C	11: 21,303,447 (GRCm39)	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,218,662 (GRCm39)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,284,330 (GRCm39)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,935 (GRCm39)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,741 (GRCm39)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,622,634 (GRCm39)	N511S	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
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
R0348:Pgbd5	UTSW	8	125,160,771 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2014-02-04