Mutagenetix > Incidental Mutation

Incidental Mutation 'R0589:Pgbd1'

55891

Institutional Source

Beutler Lab

Gene Symbol

Pgbd1

Ensembl Gene

ENSMUSG00000055313

Gene Name

piggyBac transposable element derived 1

Synonyms

4921509E05Rik

MMRRC Submission

038779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0589 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

21605445-21625228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21618600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 19 (T19I)

Ref Sequence

ENSEMBL: ENSMUSP00000120175 (fasta)

Gene Model

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

AlphaFold

E9Q492

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099719
AA Change: T19I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: T19I

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: T19I

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

SMART Domains

Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: T19I

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: T19I

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

SMART Domains

Protein: ENSMUSP00000118503
Gene: ENSMUSG00000055313
AA Change: T19I

Domain	Start	End	E-Value	Type
Blast:SCAN	1	65	8e-15	BLAST
low complexity region	192	204	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148071
AA Change: T19I

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

SMART Domains

Protein: ENSMUSP00000114882
Gene: ENSMUSG00000055313
AA Change: T19I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151743
AA Change: T19I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: T19I

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

0.0754

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,833,094 (GRCm39)	A1202E	probably damaging	Het
Abcc12	A	T	8: 87,287,101 (GRCm39)	I155N	possibly damaging	Het
Atf4	T	A	15: 80,140,640 (GRCm39)	H47Q	probably damaging	Het
Atm	T	A	9: 53,401,492 (GRCm39)	D1459V	possibly damaging	Het
Bicral	A	G	17: 47,112,522 (GRCm39)	S893P	probably benign	Het
Camk2a	G	A	18: 61,097,036 (GRCm39)		probably null	Het
Cebpz	G	A	17: 79,244,308 (GRCm39)	T51I	probably damaging	Het
Cers5	A	T	15: 99,638,837 (GRCm39)	D208E	probably damaging	Het
Cimip2b	T	C	4: 43,427,355 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,586,345 (GRCm39)	D391G	possibly damaging	Het
Dct	G	T	14: 118,280,682 (GRCm39)	F111L	probably benign	Het
Ddb1	T	G	19: 10,599,080 (GRCm39)	I529S	probably benign	Het
Dhx9	G	T	1: 153,348,037 (GRCm39)	Q361K	probably damaging	Het
Dnai3	A	G	3: 145,768,086 (GRCm39)	S592P	probably benign	Het
Erbin	G	T	13: 104,022,795 (GRCm39)	R15S	probably damaging	Het
F13b	T	C	1: 139,434,671 (GRCm39)	S146P	possibly damaging	Het
Ggnbp2	A	T	11: 84,727,277 (GRCm39)	C520S	probably damaging	Het
Gpx3	A	G	11: 54,800,329 (GRCm39)	I208V	probably benign	Het
Grk3	A	G	5: 113,076,629 (GRCm39)		probably benign	Het
Heatr9	T	C	11: 83,405,516 (GRCm39)		probably benign	Het
Heg1	T	G	16: 33,552,077 (GRCm39)	I762R	probably damaging	Het
Ints11	A	T	4: 155,971,343 (GRCm39)	T264S	probably damaging	Het
Ints14	T	C	9: 64,887,113 (GRCm39)	L348P	probably damaging	Het
Maco1	C	A	4: 134,555,528 (GRCm39)	C315F	probably benign	Het
Marf1	C	A	16: 13,959,919 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,174,075 (GRCm39)	Y1808H	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrpl45	A	T	11: 97,214,714 (GRCm39)	T134S	probably benign	Het
Myh8	A	G	11: 67,189,453 (GRCm39)	I1210V	probably benign	Het
Nsd3	T	C	8: 26,131,303 (GRCm39)	S223P	probably damaging	Het
Or2j6	T	G	7: 139,980,813 (GRCm39)	S49R	possibly damaging	Het
Or4c115	A	G	2: 88,927,606 (GRCm39)	F222L	probably benign	Het
Or5be3	A	T	2: 86,864,459 (GRCm39)	Y35*	probably null	Het
P3h3	T	A	6: 124,818,644 (GRCm39)	E731D	probably damaging	Het
Pcdhac2	A	G	18: 37,279,527 (GRCm39)	R836G	probably benign	Het
Pdzd2	A	G	15: 12,376,385 (GRCm39)	V1250A	probably benign	Het
Phtf2	T	A	5: 21,018,249 (GRCm39)	R31*	probably null	Het
Plod2	T	A	9: 92,475,799 (GRCm39)	V294D	probably benign	Het
Rassf5	C	T	1: 131,172,720 (GRCm39)	G50R	probably damaging	Het
Rexo5	A	G	7: 119,444,606 (GRCm39)	T694A	probably benign	Het
Rtcb	A	C	10: 85,787,315 (GRCm39)	S82A	probably damaging	Het
Rufy4	T	C	1: 74,172,042 (GRCm39)	L255P	probably damaging	Het
Slc35c1	A	G	2: 92,284,859 (GRCm39)	F252L	probably damaging	Het
Slco6d1	A	T	1: 98,427,472 (GRCm39)		probably benign	Het
Sox10	T	G	15: 79,047,485 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,529,028 (GRCm39)	M1762V	probably benign	Het
Stat3	A	T	11: 100,798,909 (GRCm39)	Y94N	probably damaging	Het
Tasor	T	C	14: 27,183,107 (GRCm39)	I522T	probably benign	Het
Tecta	T	A	9: 42,256,930 (GRCm39)	Y1582F	probably benign	Het
Tex44	A	G	1: 86,355,453 (GRCm39)	D454G	probably damaging	Het
Tle6	A	G	10: 81,431,253 (GRCm39)		probably benign	Het
Tmod2	T	C	9: 75,484,041 (GRCm39)	E303G	probably damaging	Het
Trem1	A	G	17: 48,544,245 (GRCm39)	D90G	possibly damaging	Het
Trhde	A	T	10: 114,284,229 (GRCm39)	D751E	probably benign	Het
Ttn	A	T	2: 76,795,589 (GRCm39)		probably null	Het
Vars2	T	C	17: 35,970,068 (GRCm39)	T774A	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
R0420:Pgbd1	UTSW	13	21,607,336 (GRCm39)	missense	possibly damaging	0.50
R0547:Pgbd1	UTSW	13	21,607,688 (GRCm39)	missense	probably damaging	1.00
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'- CCGGGGAAAGTCTGCATAACTGTG -3'
(R):5'- CTGGGTTCTGCTCCTGAGAATGAAG -3'

Sequencing Primer
(F):5'- TCATGGAACCAGTGTTACCAAG -3'
(R):5'- AATGAAGGCCGCCTTGTG -3'

Posted On

2013-07-11