Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Erg'

556348

Institutional Source

Beutler Lab

Gene Symbol

Erg

Ensembl Gene

ENSMUSG00000040732

Gene Name

ETS transcription factor

Synonyms

D030036I24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4515001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95160028-95387452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95210619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 78 (N78Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109479 (fasta)

Gene Model

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

AlphaFold

P81270

Predicted Effect

probably benign
Transcript: ENSMUST00000113848
AA Change: N78Y

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: N78Y

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: N78Y

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732
AA Change: N78Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122199
AA Change: N71Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732
AA Change: N71Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171646
AA Change: N78Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732
AA Change: N78Y

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: N71Y

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: N71Y

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: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTTGCAGCCTGTCTTCAAC -3'
(R):5'- TGTTTCTTCGTCCAGGAGGC -3'

Sequencing Primer
(F):5'- CCCAAACCACTGGAGTGTAAGTTTTC -3'
(R):5'- TCAGTTGTGAGCGAGGACC -3'

Posted On

2019-06-07