Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Erg'

68180

Institutional Source

Beutler Lab

Gene Symbol

Erg

Ensembl Gene

ENSMUSG00000040732

Gene Name

ETS transcription factor

Synonyms

D030036I24Rik

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95160028-95387452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95170884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 269 (G269C)

Ref Sequence

ENSEMBL: ENSMUSP00000109479 (fasta)

Gene Model

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

AlphaFold

P81270

Predicted Effect

probably benign
Transcript: ENSMUST00000077773
AA Change: G245C

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732
AA Change: G245C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113846
AA Change: G269C

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732
AA Change: G269C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113848
AA Change: G269C

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: G269C

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: ENSMUST00000121809
AA Change: G245C

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732
AA Change: G245C

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
AA Change: G262C

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: G262C

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
AA Change: G146C

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134930
Gene: ENSMUSG00000040732
AA Change: G146C

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

Meta Mutation Damage Score

0.1315

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAGGAGCCCTCTATGTGCTGGAAAG -3'
(R):5'- AGCTGAGCTAAATCAGCGAGCC -3'

Sequencing Primer
(F):5'- TCTATGTGCTGGAAAGACCAC -3'
(R):5'- cacacacatacacacacacac -3'

Posted On

2013-09-03