Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Ets2'

34806

Institutional Source

Beutler Lab

Gene Symbol

Ets2

Ensembl Gene

ENSMUSG00000022895

Gene Name

E26 avian leukemia oncogene 2, 3' domain

Synonyms

Ets-2

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0257 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

95702407-95721045 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 95712201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 140 (C140*)

Ref Sequence

ENSEMBL: ENSMUSP00000116638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023612] [ENSMUST00000155226]

AlphaFold

P15037

Predicted Effect

probably null
Transcript: ENSMUST00000023612
AA Change: C140*

SMART Domains

Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: C140*

Domain	Start	End	E-Value	Type
SAM_PNT	87	170	3.35e-43	SMART
low complexity region	259	269	N/A	INTRINSIC
ETS	361	446	8.49e-57	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145509

Predicted Effect

probably null
Transcript: ENSMUST00000155226
AA Change: C140*

SMART Domains

Protein: ENSMUSP00000116638
Gene: ENSMUSG00000022895
AA Change: C140*

Domain	Start	End	E-Value	Type
SAM_PNT	87	170	3.35e-43	SMART
low complexity region	259	269	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Ets2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Ets2	APN	16	95712141	missense	probably benign	0.01
IGL00843:Ets2	APN	16	95709793	missense	probably benign	0.03
IGL01911:Ets2	APN	16	95711758	missense	probably damaging	1.00
R0317:Ets2	UTSW	16	95712149	missense	probably damaging	1.00
R0398:Ets2	UTSW	16	95716223	missense	probably damaging	1.00
R0478:Ets2	UTSW	16	95716262	missense	probably damaging	1.00
R0634:Ets2	UTSW	16	95716156	missense	possibly damaging	0.87
R1621:Ets2	UTSW	16	95709869	missense	probably damaging	1.00
R1868:Ets2	UTSW	16	95715074	missense	probably benign	0.00
R2120:Ets2	UTSW	16	95718933	missense	probably benign	0.17
R3037:Ets2	UTSW	16	95716065	missense	probably benign	0.19
R3915:Ets2	UTSW	16	95718993	missense	probably damaging	1.00
R4086:Ets2	UTSW	16	95709789	missense	probably damaging	1.00
R4609:Ets2	UTSW	16	95711774	missense	probably benign	0.03
R4760:Ets2	UTSW	16	95719043	missense	probably damaging	1.00
R5245:Ets2	UTSW	16	95712260	nonsense	probably null
R5551:Ets2	UTSW	16	95712121	missense	probably damaging	1.00
R6057:Ets2	UTSW	16	95714372	missense	probably benign	0.00
R6376:Ets2	UTSW	16	95718993	missense	probably damaging	1.00
R7545:Ets2	UTSW	16	95715083	missense	probably benign	0.45
R7905:Ets2	UTSW	16	95706437	missense	probably damaging	0.97
R8013:Ets2	UTSW	16	95716100	missense	probably damaging	1.00
R8297:Ets2	UTSW	16	95706454	missense	probably damaging	1.00
R8482:Ets2	UTSW	16	95714975	missense	probably benign	0.00
R9489:Ets2	UTSW	16	95715077	nonsense	probably null
R9605:Ets2	UTSW	16	95715077	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCCTGTCTTTGAAATGCTCCTG -3'
(R):5'- TCTGAGGCAATGGACTCTACCACTG -3'

Sequencing Primer
(F):5'- AATTGTTGAGGGCCACATGC -3'
(R):5'- TGGACTCTACCACTGGGCAG -3'

Posted On

2013-05-09