Mutagenetix > Incidental Mutation

Incidental Mutation 'R7905:Ets2'

610240

Institutional Source

Beutler Lab

Gene Symbol

Ets2

Ensembl Gene

ENSMUSG00000022895

Gene Name

E26 avian leukemia oncogene 2, 3' domain

Synonyms

Ets-2

MMRRC Submission

045957-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95503274-95522093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95507304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 6 (I6N)

Ref Sequence

ENSEMBL: ENSMUSP00000023612 (fasta)

Gene Model

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

AlphaFold

P15037

Predicted Effect

probably damaging
Transcript: ENSMUST00000023612
AA Change: I6N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: I6N

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

Meta Mutation Damage Score

0.1012

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,801 (GRCm39)	V287A	possibly damaging	Het
Adcy10	T	A	1: 165,340,737 (GRCm39)		probably null	Het
Aox1	G	A	1: 58,143,557 (GRCm39)	S1225N	possibly damaging	Het
B430306N03Rik	T	A	17: 48,623,988 (GRCm39)	S96R	probably benign	Het
Bpifa5	T	C	2: 154,007,508 (GRCm39)	I150T	probably damaging	Het
Ccdc28a	A	T	10: 18,094,076 (GRCm39)	V181D	probably benign	Het
Cd40	T	C	2: 164,904,245 (GRCm39)	Y31H	probably damaging	Het
Cep290	A	G	10: 100,390,352 (GRCm39)	T2032A	probably benign	Het
Cnbd1	T	C	4: 18,907,100 (GRCm39)	K158R	possibly damaging	Het
Degs1	A	C	1: 182,106,601 (GRCm39)	N255K	possibly damaging	Het
Dll3	T	G	7: 28,000,960 (GRCm39)	I32L	possibly damaging	Het
Dsg4	A	T	18: 20,587,726 (GRCm39)	I278F	probably damaging	Het
Gbp4	A	G	5: 105,268,953 (GRCm39)	F400S	probably damaging	Het
Golgb1	C	T	16: 36,734,047 (GRCm39)	A1139V	probably benign	Het
Hfm1	A	T	5: 107,046,419 (GRCm39)	L489H	probably damaging	Het
Kcna5	T	C	6: 126,511,831 (GRCm39)	D99G	probably benign	Het
Ldhc	A	G	7: 46,524,955 (GRCm39)		probably null	Het
Mief1	C	G	15: 80,133,599 (GRCm39)	P219A	probably damaging	Het
Myh11	A	T	16: 14,025,545 (GRCm39)	Y1408*	probably null	Het
Myo1b	A	G	1: 51,803,043 (GRCm39)		probably null	Het
Nedd4	A	T	9: 72,584,661 (GRCm39)	K121*	probably null	Het
Nek9	A	C	12: 85,352,370 (GRCm39)	M831R	probably damaging	Het
Nf1	G	A	11: 79,437,938 (GRCm39)	A83T	possibly damaging	Het
Or6c203	A	T	10: 129,010,056 (GRCm39)	I278N	probably damaging	Het
Osbpl10	T	C	9: 114,891,078 (GRCm39)		probably null	Het
Pcdhb6	T	C	18: 37,467,607 (GRCm39)	L176P	probably benign	Het
Plxnb1	G	A	9: 108,938,300 (GRCm39)	V1285M	probably damaging	Het
Psg26	T	A	7: 18,209,242 (GRCm39)	M389L	probably benign	Het
Slc49a4	G	A	16: 35,589,320 (GRCm39)	P98S	probably benign	Het
Slc4a10	A	G	2: 62,098,495 (GRCm39)	E543G	probably damaging	Het
Spata31h1	A	G	10: 82,131,936 (GRCm39)	I358T	probably benign	Het
Spink7	G	T	18: 62,725,487 (GRCm39)	C85*	probably null	Het
Stard9	T	C	2: 120,526,562 (GRCm39)	W940R	not run	Het
Susd2	A	T	10: 75,475,491 (GRCm39)	L471*	probably null	Het
Taf2	A	T	15: 54,910,828 (GRCm39)	D615E	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tfdp2	T	C	9: 96,192,659 (GRCm39)	S14P		Het
Tha1	A	C	11: 117,761,893 (GRCm39)	V116G	possibly damaging	Het
Trim46	T	C	3: 89,151,633 (GRCm39)	H50R	probably damaging	Het
Trit1	A	G	4: 122,910,508 (GRCm39)	K36E	probably damaging	Het
Ttc13	A	T	8: 125,415,335 (GRCm39)	M268K	probably benign	Het
Ufc1	T	A	1: 171,117,508 (GRCm39)	K68N	probably damaging	Het
Zbbx	T	C	3: 74,992,820 (GRCm39)	T225A	probably benign	Het
Zfp768	T	C	7: 126,943,831 (GRCm39)	E102G	probably damaging	Het

Other mutations in Ets2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Ets2	APN	16	95,513,185 (GRCm39)	missense	probably benign	0.01
IGL00843:Ets2	APN	16	95,510,837 (GRCm39)	missense	probably benign	0.03
IGL01911:Ets2	APN	16	95,512,802 (GRCm39)	missense	probably damaging	1.00
R0257:Ets2	UTSW	16	95,513,245 (GRCm39)	nonsense	probably null
R0317:Ets2	UTSW	16	95,513,193 (GRCm39)	missense	probably damaging	1.00
R0398:Ets2	UTSW	16	95,517,267 (GRCm39)	missense	probably damaging	1.00
R0478:Ets2	UTSW	16	95,517,306 (GRCm39)	missense	probably damaging	1.00
R0634:Ets2	UTSW	16	95,517,200 (GRCm39)	missense	possibly damaging	0.87
R1621:Ets2	UTSW	16	95,510,913 (GRCm39)	missense	probably damaging	1.00
R1868:Ets2	UTSW	16	95,516,118 (GRCm39)	missense	probably benign	0.00
R2120:Ets2	UTSW	16	95,519,977 (GRCm39)	missense	probably benign	0.17
R3037:Ets2	UTSW	16	95,517,109 (GRCm39)	missense	probably benign	0.19
R3915:Ets2	UTSW	16	95,520,037 (GRCm39)	missense	probably damaging	1.00
R4086:Ets2	UTSW	16	95,510,833 (GRCm39)	missense	probably damaging	1.00
R4609:Ets2	UTSW	16	95,512,818 (GRCm39)	missense	probably benign	0.03
R4760:Ets2	UTSW	16	95,520,087 (GRCm39)	missense	probably damaging	1.00
R5245:Ets2	UTSW	16	95,513,304 (GRCm39)	nonsense	probably null
R5551:Ets2	UTSW	16	95,513,165 (GRCm39)	missense	probably damaging	1.00
R6057:Ets2	UTSW	16	95,515,416 (GRCm39)	missense	probably benign	0.00
R6376:Ets2	UTSW	16	95,520,037 (GRCm39)	missense	probably damaging	1.00
R7545:Ets2	UTSW	16	95,516,127 (GRCm39)	missense	probably benign	0.45
R8013:Ets2	UTSW	16	95,517,144 (GRCm39)	missense	probably damaging	1.00
R8297:Ets2	UTSW	16	95,507,321 (GRCm39)	missense	probably damaging	1.00
R8482:Ets2	UTSW	16	95,516,019 (GRCm39)	missense	probably benign	0.00
R9489:Ets2	UTSW	16	95,516,121 (GRCm39)	nonsense	probably null
R9605:Ets2	UTSW	16	95,516,121 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTGTTCTGTCTGGCTAAAG -3'
(R):5'- AGGAACTTCAGGATGAACTCATC -3'

Sequencing Primer
(F):5'- CTGTCTGGCTAAAGATTGAAGCC -3'
(R):5'- ACTACTTCTATATTTTGGGGGACAG -3'

Posted On

2019-12-20