Mutagenetix > Incidental Mutation

Incidental Mutation 'R8848:Pgbd1'

674844

Institutional Source

Beutler Lab

Gene Symbol

Pgbd1

Ensembl Gene

ENSMUSG00000055313

Gene Name

piggyBac transposable element derived 1

Synonyms

4921509E05Rik

MMRRC Submission

068671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21605445-21625228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21607052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 381 (C381R)

Ref Sequence

ENSEMBL: ENSMUSP00000097307 (fasta)

Gene Model

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

AlphaFold

E9Q492

Predicted Effect

probably damaging
Transcript: ENSMUST00000099719
AA Change: C381R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097307
Gene: ENSMUSG00000055313
AA Change: C381R

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

probably damaging
Transcript: ENSMUST00000122872
AA Change: C344R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313
AA Change: C344R

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

probably damaging
Transcript: ENSMUST00000151743
AA Change: C381R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313
AA Change: C381R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,106 (GRCm39)	D46G	probably benign	Het
Abcc8	A	T	7: 45,766,769 (GRCm39)	W1004R	possibly damaging	Het
Acbd3	T	A	1: 180,562,084 (GRCm39)		probably null	Het
Adh1	G	T	3: 137,986,262 (GRCm39)	C83F	probably benign	Het
Arhgef18	T	C	8: 3,477,481 (GRCm39)	V20A	probably benign	Het
Bmal1	T	C	7: 112,905,327 (GRCm39)	I506T	possibly damaging	Het
Brf2	T	C	8: 27,616,140 (GRCm39)	I82V	probably benign	Het
C7	A	G	15: 5,088,911 (GRCm39)	V10A	probably damaging	Het
Cacna1d	C	T	14: 29,845,283 (GRCm39)	V651M	possibly damaging	Het
Cacna2d2	T	C	9: 107,391,855 (GRCm39)	I458T	possibly damaging	Het
Cadps2	C	A	6: 23,344,256 (GRCm39)	W897L	probably damaging	Het
Cdhr1	T	A	14: 36,802,531 (GRCm39)	N644I	probably benign	Het
Cox7c	A	T	13: 86,193,900 (GRCm39)	I55K	possibly damaging	Het
Cox8c	T	A	12: 102,865,577 (GRCm39)		probably benign	Het
Cyp2c40	G	A	19: 39,801,244 (GRCm39)	R4C	unknown	Het
Ehd3	A	T	17: 74,136,911 (GRCm39)		probably null	Het
Eif2b4	A	T	5: 31,348,210 (GRCm39)	C227S	probably damaging	Het
Erlec1	T	C	11: 30,898,411 (GRCm39)	Y213C	probably damaging	Het
F11	G	T	8: 45,695,281 (GRCm39)	Y562*	probably null	Het
Fam186a	A	G	15: 99,838,034 (GRCm39)	S2737P	possibly damaging	Het
Fat3	T	C	9: 15,878,398 (GRCm39)	E3361G	probably damaging	Het
Fbxl7	T	A	15: 26,552,902 (GRCm39)	M122L	probably benign	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm12185	T	A	11: 48,806,280 (GRCm39)	T304S	possibly damaging	Het
Grin3b	A	T	10: 79,809,667 (GRCm39)	D391V	probably benign	Het
Hao2	T	A	3: 98,784,528 (GRCm39)	D279V	probably damaging	Het
Il4i1	C	A	7: 44,489,175 (GRCm39)	D313E	probably damaging	Het
Kcnk7	T	A	19: 5,756,743 (GRCm39)	L244Q	probably damaging	Het
Lingo4	A	T	3: 94,310,840 (GRCm39)	M593L	probably benign	Het
Lix1	G	A	17: 17,663,955 (GRCm39)	A98T	probably damaging	Het
Lpo	T	A	11: 87,708,603 (GRCm39)	I132L	probably benign	Het
Mymx	A	T	17: 45,912,935 (GRCm39)		probably null	Het
Nms	T	C	1: 38,978,391 (GRCm39)	S9P	probably benign	Het
Nom1	A	G	5: 29,645,137 (GRCm39)	D535G	probably damaging	Het
Or2t43	T	A	11: 58,457,902 (GRCm39)	I90F	probably damaging	Het
Or5p81	T	A	7: 108,266,929 (GRCm39)	I102N	probably benign	Het
Or8k25	T	C	2: 86,243,821 (GRCm39)	T192A	probably benign	Het
Pkp1	T	C	1: 135,807,652 (GRCm39)	S539G	probably damaging	Het
Plcd3	C	A	11: 102,971,446 (GRCm39)	R66L	probably benign	Het
Polr3a	A	T	14: 24,500,834 (GRCm39)	L1318Q	probably damaging	Het
Ppara	T	A	15: 85,673,188 (GRCm39)	F126L	possibly damaging	Het
Rab11a	T	C	9: 64,624,264 (GRCm39)	Y173C	probably damaging	Het
Rev3l	T	A	10: 39,722,705 (GRCm39)	M2566K	probably damaging	Het
Rwdd1	A	G	10: 33,884,987 (GRCm39)		probably null	Het
Scn7a	G	A	2: 66,530,393 (GRCm39)	R651*	probably null	Het
Slc15a4	T	G	5: 127,679,021 (GRCm39)	I440L	probably benign	Het
Slc28a2	A	G	2: 122,290,902 (GRCm39)	T623A	probably benign	Het
Snd1	T	A	6: 28,874,962 (GRCm39)	S628T	possibly damaging	Het
Speg	T	C	1: 75,404,082 (GRCm39)		probably null	Het
Spta1	G	A	1: 174,025,310 (GRCm39)	R725K	probably benign	Het
Stag3	A	G	5: 138,288,528 (GRCm39)	E185G	probably null	Het
Svop	G	T	5: 114,183,687 (GRCm39)	T195K		Het
Tbc1d5	A	T	17: 51,226,082 (GRCm39)	F254I	probably damaging	Het
Ulk3	T	C	9: 57,496,890 (GRCm39)	L8P	probably benign	Het
Unc13c	T	C	9: 73,433,263 (GRCm39)	I1973V	probably benign	Het
Upb1	T	A	10: 75,264,178 (GRCm39)		probably null	Het
Usp53	C	T	3: 122,742,825 (GRCm39)	G704S	probably benign	Het
Usp53	T	C	3: 122,743,235 (GRCm39)	D567G	probably benign	Het
Vmn1r72	T	A	7: 11,404,269 (GRCm39)	I60F	probably damaging	Het
Vmn2r34	C	T	7: 7,675,307 (GRCm39)	V694I	probably benign	Het
Vmn2r60	T	C	7: 41,786,169 (GRCm39)	F324S	probably damaging	Het
Vps37d	A	G	5: 135,102,519 (GRCm39)	S238P	probably damaging	Het
Zfp407	T	A	18: 84,578,819 (GRCm39)	I765F	probably damaging	Het
Zfp455	A	G	13: 67,356,089 (GRCm39)	I387M	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGATGGTGACCTTTCTCC -3'
(R):5'- CTGATCAGACCCTGGTTAGAAATG -3'

Sequencing Primer
(F):5'- GATGGTGACCTTTCTCCAGAAGAAC -3'
(R):5'- CAGACCCTGGTTAGAAATGAAATTAG -3'

Posted On

2021-07-15