Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00488:Erg'

5783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erg

Ensembl Gene

ENSMUSG00000040732

Gene Name

ETS transcription factor

Synonyms

D030036I24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00488

Quality Score

Status

Chromosome

Chromosomal Location

95160028-95387452 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 95170848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077773] [ENSMUST00000113846] [ENSMUST00000113848] [ENSMUST00000118113] [ENSMUST00000121809] [ENSMUST00000122199] [ENSMUST00000171646] [ENSMUST00000176345] [ENSMUST00000177450]

AlphaFold

P81270

Predicted Effect

probably benign
Transcript: ENSMUST00000077773

SMART Domains

Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	122	206	6.99e-32	SMART
ETS	293	378	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113846

SMART Domains

Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	122	206	6.99e-32	SMART
ETS	317	402	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113848

SMART Domains

Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	122	206	6.99e-32	SMART
ETS	294	379	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118113

SMART Domains

Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	115	199	6.99e-32	SMART
ETS	287	372	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121809

SMART Domains

Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	115	199	6.99e-32	SMART
ETS	286	371	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122199

SMART Domains

Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	115	199	6.99e-32	SMART
ETS	310	395	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171646

SMART Domains

Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	122	206	6.99e-32	SMART
ETS	270	355	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176345

SMART Domains

Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	23	107	6.99e-32	SMART
ETS	218	303	9.9e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177450

SMART Domains

Protein: ENSMUSP00000134930
Gene: ENSMUSG00000040732

Domain	Start	End	E-Value	Type
SAM_PNT	23	107	6.99e-32	SMART
ETS	194	279	9.9e-58	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for an ENU-induced mutation or a knock-out of isoforms 5 - 7 die during organogenesis and exhibit embryonic growth retardation. Mice homozygous for a knock-out of isoforms 1 - 4 are viable and fertile with no overt abnnormalities. Homozygous knock-out mice develop pulmonary venoocclusive disease, with pancytopenia, pulmonary hemorrhage and hypertension, and heart right ventricle hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,248,478 (GRCm39)	S717T	probably damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Cchcr1	A	G	17: 35,839,469 (GRCm39)	D585G	possibly damaging	Het
Dnah6	A	T	6: 73,063,190 (GRCm39)	N2637K	possibly damaging	Het
Mak	C	T	13: 41,209,165 (GRCm39)		probably benign	Het
Max	T	C	12: 76,985,404 (GRCm39)	S132G	probably damaging	Het
Nfam1	T	C	15: 82,907,185 (GRCm39)	Y4C	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Prkdc	T	A	16: 15,593,711 (GRCm39)		probably null	Het
Ptpn18	G	A	1: 34,502,200 (GRCm39)	R72K	probably damaging	Het
R3hcc1l	A	G	19: 42,552,391 (GRCm39)	I463V	probably benign	Het
Rapgef2	T	C	3: 78,999,332 (GRCm39)	E480G	possibly damaging	Het
Rictor	T	A	15: 6,816,071 (GRCm39)	D1114E	probably damaging	Het
Sestd1	A	G	2: 77,042,796 (GRCm39)	S253P	possibly damaging	Het
Slk	C	T	19: 47,608,148 (GRCm39)	T367I	probably benign	Het
Tasl	T	A	X: 84,931,985 (GRCm39)	Y184N	possibly damaging	Het
Tcirg1	T	G	19: 3,949,108 (GRCm39)	I394L	possibly damaging	Het
Ubn1	T	C	16: 4,899,778 (GRCm39)	S1097P	probably benign	Het
Ugt2b34	T	A	5: 87,040,818 (GRCm39)	H368L	probably damaging	Het
Wdr20rt	T	C	12: 65,272,744 (GRCm39)	V69A	possibly damaging	Het
Wnt16	T	C	6: 22,291,012 (GRCm39)	S147P	probably damaging	Het

Other mutations in Erg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Erg	APN	16	95,190,912 (GRCm39)	splice site	probably benign
IGL01446:Erg	APN	16	95,162,141 (GRCm39)	missense	probably damaging	1.00
IGL01459:Erg	APN	16	95,162,141 (GRCm39)	missense	probably damaging	1.00
IGL01984:Erg	APN	16	95,210,786 (GRCm39)	missense	probably damaging	1.00
IGL03164:Erg	APN	16	95,210,730 (GRCm39)	missense	possibly damaging	0.94
PIT4515001:Erg	UTSW	16	95,210,619 (GRCm39)	missense	probably benign	0.09
R0499:Erg	UTSW	16	95,161,842 (GRCm39)	nonsense	probably null
R0734:Erg	UTSW	16	95,170,884 (GRCm39)	missense	possibly damaging	0.61
R1880:Erg	UTSW	16	95,178,168 (GRCm39)	missense	probably benign	0.07
R2069:Erg	UTSW	16	95,161,937 (GRCm39)	missense	probably damaging	1.00
R4710:Erg	UTSW	16	95,190,893 (GRCm39)	missense	possibly damaging	0.92
R4749:Erg	UTSW	16	95,162,029 (GRCm39)	missense	probably damaging	1.00
R5053:Erg	UTSW	16	95,325,393 (GRCm39)	missense	probably benign	0.00
R5284:Erg	UTSW	16	95,260,102 (GRCm39)	start codon destroyed	probably null	0.01
R5694:Erg	UTSW	16	95,161,890 (GRCm39)	missense	probably benign	0.00
R6212:Erg	UTSW	16	95,180,022 (GRCm39)	missense	probably damaging	0.98
R6258:Erg	UTSW	16	95,181,100 (GRCm39)	missense	probably damaging	0.99
R6260:Erg	UTSW	16	95,181,100 (GRCm39)	missense	probably damaging	0.99
R6856:Erg	UTSW	16	95,169,510 (GRCm39)	critical splice donor site	probably null
R7426:Erg	UTSW	16	95,260,015 (GRCm39)	splice site	probably null
R7549:Erg	UTSW	16	95,170,179 (GRCm39)	critical splice donor site	probably null
R7749:Erg	UTSW	16	95,178,216 (GRCm39)	missense	probably benign	0.00
R9015:Erg	UTSW	16	95,162,126 (GRCm39)	missense	possibly damaging	0.61
R9099:Erg	UTSW	16	95,178,188 (GRCm39)	missense	probably benign
R9166:Erg	UTSW	16	95,190,807 (GRCm39)	missense	probably benign
Z1176:Erg	UTSW	16	95,210,609 (GRCm39)	missense	possibly damaging	0.52
Z1176:Erg	UTSW	16	95,162,176 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20