Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Erg'

47063

Institutional Source

Beutler Lab

Gene Symbol

Erg

Ensembl Gene

ENSMUSG00000040732

Gene Name

ETS transcription factor

Synonyms

D030036I24Rik

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95160028-95387452 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 95161842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 305 (Y305*)

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 null
Transcript: ENSMUST00000077773
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732
AA Change: Y404*

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

Predicted Effect

probably null
Transcript: ENSMUST00000113846
AA Change: Y428*

SMART Domains

Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732
AA Change: Y428*

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

Predicted Effect

probably null
Transcript: ENSMUST00000113848
AA Change: Y428*

SMART Domains

Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: Y428*

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: ENSMUST00000118113
AA Change: Y398*

SMART Domains

Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732
AA Change: Y398*

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

Predicted Effect

probably null
Transcript: ENSMUST00000121809
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732
AA Change: Y404*

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
AA Change: Y398*

SMART Domains

Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732
AA Change: Y398*

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
AA Change: Y381*

SMART Domains

Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732
AA Change: Y381*

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
AA Change: Y421*

SMART Domains

Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: Y421*

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

Predicted Effect

probably null
Transcript: ENSMUST00000177450
AA Change: Y305*

SMART Domains

Protein: ENSMUSP00000134930
Gene: ENSMUSG00000040732
AA Change: Y305*

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

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- GGCGATTGTACACTGTTGGGAAAGG -3'
(R):5'- ACATGAACTATGACAAGCTCAGCCG -3'

Sequencing Primer
(F):5'- CTCCATCTGGTCTCTAGTAGTAGG -3'
(R):5'- GCGCCCTCCGCTACTAC -3'

Posted On

2013-06-12