Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Erg'

535281

Institutional Source

Beutler Lab

Gene Symbol

Erg

Ensembl Gene

ENSMUSG00000040732

Gene Name

ETS transcription factor

Synonyms

D030036I24Rik

MMRRC Submission

044958-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95160028-95387452 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 95169510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135568 (fasta)

Gene Model

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

AlphaFold

P81270

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	Het

Other mutations in Erg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Erg	APN	16	95,170,848 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGTTACATGAGCAAACACAC -3'
(R):5'- TGAGGTCCTGTGTGATATCTTACC -3'

Sequencing Primer
(F):5'- GATTTCCAGCCTCCAGAGCTAG -3'
(R):5'- GATATCTTACCTCATGCGGGAG -3'

Posted On

2018-09-12