Mutagenetix > Incidental Mutations

Incidental Mutation 'R8013:Ets2'

617031

Institutional Source

Beutler Lab

Gene Symbol

Ets2

Ensembl Gene

ENSMUSG00000022895

Gene Name

E26 avian leukemia oncogene 2, 3' domain

Synonyms

Ets-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95702407-95721045 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95716100 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 292 (L292Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023612 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023612
AA Change: L292Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: L292Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	G	6: 149,328,870	V1138G	probably damaging	Het
6030458C11Rik	C	A	15: 12,824,529	D7Y	probably benign	Het
9530053A07Rik	G	A	7: 28,137,541	R295H	probably benign	Het
Ahnak	A	G	19: 9,009,335	D2661G	unknown	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Apob	T	A	12: 8,010,798	N3093K	possibly damaging	Het
Baz2a	T	G	10: 128,125,292	V1628G	possibly damaging	Het
Baz2a	C	T	10: 128,125,288	R1627C	probably benign	Het
Bbs7	A	T	3: 36,594,387	I404K	probably damaging	Het
BC030867	A	G	11: 102,257,899	N379D	probably benign	Het
Cacna1g	T	C	11: 94,456,970	Y764C	probably damaging	Het
Casr	G	A	16: 36,509,644	L443F	probably benign	Het
Cfap43	T	A	19: 47,773,109	I849F	probably damaging	Het
Cntn3	A	T	6: 102,199,317	H812Q	probably benign	Het
Cog1	A	G	11: 113,656,164	D528G	probably damaging	Het
Depdc5	C	T	5: 32,973,842	T1229M	probably benign	Het
Dis3	T	A	14: 99,077,399	R954W	possibly damaging	Het
Disp2	T	A	2: 118,789,682	Y298*	probably null	Het
Dock2	A	C	11: 34,705,850	I393S	probably damaging	Het
Dtd1	A	G	2: 144,617,332	D92G	probably damaging	Het
Eef2	T	A	10: 81,178,196	V121D	probably damaging	Het
Eml1	T	A	12: 108,521,679	I550N	probably benign	Het
Entpd7	A	G	19: 43,728,055	D496G	probably benign	Het
Ext1	T	C	15: 53,075,887	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,685,506	E142D	possibly damaging	Het
Farp1	T	A	14: 121,242,401	I368N	probably damaging	Het
Fars2	C	T	13: 36,205,085	Q186*	probably null	Het
Fbn2	T	C	18: 58,104,081	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,530,811	E203G	possibly damaging	Het
Fhdc1	A	T	3: 84,474,639	M1K	probably null	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gm28363	A	G	1: 117,726,804	R58G	probably benign	Het
Gm8356	A	T	14: 6,536,303	N58K	probably damaging	Het
Grsf1	A	G	5: 88,675,756		probably null	Het
Hephl1	T	A	9: 15,054,609	D1016V	possibly damaging	Het
Kcnma1	T	A	14: 23,373,143	I831F	probably benign	Het
Krt78	T	C	15: 101,948,542	R377G	probably damaging	Het
Lama2	T	C	10: 27,344,498	H457R	probably benign	Het
Lmnb1	T	A	18: 56,708,359	Y83N	probably damaging	Het
Loxl4	A	G	19: 42,607,676	C113R	probably damaging	Het
Lrba	A	T	3: 86,417,971	D1912V	probably damaging	Het
Macf1	T	A	4: 123,526,826	T212S	probably benign	Het
Map3k4	A	T	17: 12,271,031	C504*	probably null	Het
Map4k4	T	C	1: 39,962,212	I53T	unknown	Het
Myo5b	C	T	18: 74,760,899	Q1700*	probably null	Het
Npas2	T	C	1: 39,338,065	F503L	probably benign	Het
Nrg1	A	T	8: 31,949,923	S149T	probably benign	Het
Olfr1243	A	G	2: 89,527,936	V158A	probably benign	Het
Olfr155	T	A	4: 43,854,958	F216L	probably benign	Het
Olfr697	C	T	7: 106,741,617	V106I	probably benign	Het
Olfr824	T	A	10: 130,126,778	K93M	probably damaging	Het
Pdia6	T	C	12: 17,273,965	L66S	probably damaging	Het
Prss35	T	C	9: 86,755,425	S83P	probably damaging	Het
Psme4	G	A	11: 30,804,320	M192I	probably benign	Het
Ptprs	A	C	17: 56,435,994	S383A	probably damaging	Het
Sar1b	C	T	11: 51,779,794	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,352,695	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,311,478	Y465C	probably damaging	Het
Soga1	A	G	2: 157,030,786		probably null	Het
Stard9	T	C	2: 120,688,101	I502T	probably damaging	Het
Sugp2	T	A	8: 70,251,642	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,182,821	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,292,898	I99V	probably benign	Het
Tpr	G	T	1: 150,398,608	V163L	probably benign	Het
Usp31	T	C	7: 121,649,257	S988G	probably damaging	Het
Wdr63	T	C	3: 146,081,285	T332A	probably damaging	Het
Zbtb26	T	A	2: 37,437,001		probably null	Het
Zfp536	T	C	7: 37,569,610	N127S	probably damaging	Het
Zfp750	T	A	11: 121,513,017	D344V	possibly damaging	Het
Zmym5	T	A	14: 56,794,426	K408N	possibly damaging	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
R0257:Ets2	UTSW	16	95712201	nonsense	probably null
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
R8297:Ets2	UTSW	16	95706454	missense	probably damaging	1.00
R8482:Ets2	UTSW	16	95714975	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTACCAGCCGTGTGTATAGC -3'
(R):5'- GCCAGTACTGCTGCAGGAATAAC -3'

Sequencing Primer
(F):5'- AGCCGTGTGTATAGCTGCCTTG -3'
(R):5'- CTGCAGGAATAACTGGTTTGCC -3'

Posted On

2020-01-23