Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Pgbd5'

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103420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgbd5

Ensembl Gene

ENSMUSG00000050751

Gene Name

piggyBac transposable element derived 5

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

124369049-124439658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124374399 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 373 (T373S)

Ref Sequence

ENSEMBL: ENSMUSP00000120984 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052580
AA Change: T259S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: T259S

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

noncoding transcript
Transcript: ENSMUST00000128312

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136892
AA Change: T259S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: T259S

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: T373S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: T373S

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

noncoding transcript
Transcript: ENSMUST00000140126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172566
AA Change: T282S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: T282S

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	Het

Other mutations in Pgbd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Pgbd5	APN	8	124384202	missense	probably benign	0.00
IGL01759:Pgbd5	APN	8	124384379	missense	probably damaging	1.00
IGL01762:Pgbd5	APN	8	124370610	missense	probably damaging	1.00
IGL02398:Pgbd5	APN	8	124384518	missense	probably damaging	1.00
R0348:Pgbd5	UTSW	8	124434032	missense	probably damaging	0.98
R0702:Pgbd5	UTSW	8	124374255	missense	probably benign	0.21
R0981:Pgbd5	UTSW	8	124384293	nonsense	probably null
R1259:Pgbd5	UTSW	8	124370585	missense	probably damaging	0.98
R1598:Pgbd5	UTSW	8	124374287	missense	probably benign	0.26
R1609:Pgbd5	UTSW	8	124434011	missense	probably benign	0.00
R1742:Pgbd5	UTSW	8	124380307	missense	probably damaging	1.00
R1938:Pgbd5	UTSW	8	124374249	nonsense	probably null
R1985:Pgbd5	UTSW	8	124370592	missense	probably benign	0.00
R2169:Pgbd5	UTSW	8	124384624	critical splice acceptor site	probably null
R4573:Pgbd5	UTSW	8	124376227	nonsense	probably null
R4917:Pgbd5	UTSW	8	124370566	missense	probably benign	0.14
R4918:Pgbd5	UTSW	8	124370566	missense	probably benign	0.14
R4946:Pgbd5	UTSW	8	124370585	missense	possibly damaging	0.93
R5409:Pgbd5	UTSW	8	124371880	missense	probably damaging	1.00
R5885:Pgbd5	UTSW	8	124384466	missense	probably damaging	1.00
R5946:Pgbd5	UTSW	8	124374317	missense	possibly damaging	0.83
R6907:Pgbd5	UTSW	8	124380282	missense	probably damaging	0.97
R6986:Pgbd5	UTSW	8	124384473	missense	possibly damaging	0.56
R7144:Pgbd5	UTSW	8	124374317	missense	possibly damaging	0.83
R7342:Pgbd5	UTSW	8	124433970	missense	probably benign	0.36
R7475:Pgbd5	UTSW	8	124434011	missense	probably benign	0.00
X0067:Pgbd5	UTSW	8	124371912	missense	probably damaging	1.00

Posted On

2014-01-21