Mutagenetix > Incidental Mutation

Incidental Mutation 'R6986:Pgbd5'

542974

Institutional Source

Beutler Lab

Gene Symbol

Pgbd5

Ensembl Gene

ENSMUSG00000050751

Gene Name

piggyBac transposable element derived 5

Synonyms

2900019M05Rik

MMRRC Submission

045093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125095788-125161230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125111212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 160 (E160K)

Ref Sequence

ENSEMBL: ENSMUSP00000120984 (fasta)

Gene Model

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

AlphaFold

D3YZI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052580
AA Change: E46K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: E46K

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

possibly damaging
Transcript: ENSMUST00000136892
AA Change: E46K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: E46K

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

possibly damaging
Transcript: ENSMUST00000140012
AA Change: E160K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: E160K

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
AA Change: E69K

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: E69K

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,129,441 (GRCm39)	N482D	probably damaging	Het
Agbl3	A	G	6: 34,816,387 (GRCm39)	K766E	probably benign	Het
Aldh3a1	T	A	11: 61,105,077 (GRCm39)	I154N	probably damaging	Het
Cdca2	C	T	14: 67,932,446 (GRCm39)	V486I	probably benign	Het
Celf3	G	C	3: 94,395,024 (GRCm39)	A313P	possibly damaging	Het
Cgrrf1	T	C	14: 47,069,586 (GRCm39)		probably benign	Het
Chd7	T	A	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Chrna5	T	A	9: 54,913,741 (GRCm39)	M429K	possibly damaging	Het
Cux2	A	T	5: 122,006,642 (GRCm39)	L876Q	possibly damaging	Het
Cyb5rl	T	A	4: 106,928,073 (GRCm39)	S3T	probably benign	Het
Ehd4	A	T	2: 119,927,571 (GRCm39)	M321K	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Endod1	T	C	9: 14,268,606 (GRCm39)	E293G	probably damaging	Het
Fat3	G	A	9: 15,932,631 (GRCm39)	T1434I	probably damaging	Het
Flrt2	T	A	12: 95,747,459 (GRCm39)	I599N	probably damaging	Het
Gm6370	T	A	5: 146,430,398 (GRCm39)		probably null	Het
Gm7247	T	C	14: 51,602,832 (GRCm39)	M56T	possibly damaging	Het
H3c8	A	G	13: 23,719,603 (GRCm39)		probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Ints8	T	C	4: 11,204,474 (GRCm39)	Y994C	probably damaging	Het
Irf1	A	G	11: 53,664,966 (GRCm39)	T165A	probably damaging	Het
Lgr6	G	T	1: 134,921,694 (GRCm39)	Q217K	possibly damaging	Het
Lrrc36	T	C	8: 106,185,079 (GRCm39)	S619P	probably damaging	Het
Morn4	T	C	19: 42,066,453 (GRCm39)	N45D	possibly damaging	Het
Mtarc2	T	C	1: 184,573,460 (GRCm39)	H53R	probably benign	Het
Mtmr3	T	C	11: 4,439,692 (GRCm39)	T583A	probably damaging	Het
Ncdn	A	G	4: 126,641,022 (GRCm39)	Y493H	probably damaging	Het
Nckap1	T	A	2: 80,350,911 (GRCm39)	Y726F	probably benign	Het
Optc	T	A	1: 133,825,702 (GRCm39)	M275L	probably benign	Het
Or2w25	A	G	11: 59,504,924 (GRCm39)	K378R	possibly damaging	Het
Or6c69c	G	A	10: 129,911,199 (GRCm39)	V307M	possibly damaging	Het
Perm1	A	T	4: 156,302,976 (GRCm39)	K507*	probably null	Het
Polr2k	C	A	15: 36,175,181 (GRCm39)	P14T	probably benign	Het
Ppp2r3d	A	T	9: 124,439,080 (GRCm38)	Y112*	probably null	Het
Pramel14	T	A	4: 143,719,888 (GRCm39)	D159V	probably damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Rnls	C	T	19: 33,359,781 (GRCm39)	G11D	probably damaging	Het
Sbf2	T	C	7: 109,929,822 (GRCm39)	T333A	probably damaging	Het
Scn3a	A	T	2: 65,338,962 (GRCm39)	N572K	probably damaging	Het
Serinc3	A	G	2: 163,469,891 (GRCm39)	L319P	probably benign	Het
Setbp1	T	C	18: 78,901,054 (GRCm39)	D871G	probably damaging	Het
Sf3b2	T	C	19: 5,329,923 (GRCm39)	T661A	probably benign	Het
Sgsm2	T	A	11: 74,782,867 (GRCm39)	R30W	probably damaging	Het
Sh3tc1	A	G	5: 35,881,288 (GRCm39)	S52P	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Snrpa	A	T	7: 26,892,389 (GRCm39)	M57K	probably damaging	Het
Spata31f3	A	G	4: 42,868,696 (GRCm39)	V309A	possibly damaging	Het
Srbd1	A	T	17: 86,292,650 (GRCm39)	I973N	probably damaging	Het
Srp72	T	A	5: 77,142,723 (GRCm39)	S428T	probably benign	Het
Ss18l2	A	G	9: 121,541,671 (GRCm39)	Y50C	probably damaging	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmc1	T	C	19: 20,801,647 (GRCm39)	N460D	probably benign	Het
Tnni3k	C	T	3: 154,667,501 (GRCm39)	G280R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc3	A	G	3: 36,709,165 (GRCm39)		probably null	Het
Tshr	C	T	12: 91,500,731 (GRCm39)	A152V	probably damaging	Het
Tuft1	G	A	3: 94,521,461 (GRCm39)	P358S	probably damaging	Het
Vmn2r120	A	T	17: 57,816,340 (GRCm39)	S672T	probably damaging	Het
Vmn2r83	G	T	10: 79,316,093 (GRCm39)	E496D	probably benign	Het
Vmn2r91	A	G	17: 18,356,271 (GRCm39)	N646S	probably benign	Het
Zfp9	A	G	6: 118,441,426 (GRCm39)	V412A	possibly damaging	Het
Zmynd8	G	T	2: 165,675,335 (GRCm39)	H273N	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
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
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'- TGGACCTTGTAGAGCCCATG -3'
(R):5'- GATTTTGGACGTGAGCGCTC -3'

Sequencing Primer
(F):5'- CTGGATCGGAAGGCCACAAC -3'
(R):5'- CAGCCTGTCTTTGGATTTCAG -3'

Posted On

2018-11-28