Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Ets2'

356840

Institutional Source

Beutler Lab

Gene Symbol

Ets2

Ensembl Gene

ENSMUSG00000022895

Gene Name

E26 avian leukemia oncogene 2, 3' domain

Synonyms

Ets-2

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95702407-95721045 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95719043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 438 (V438M)

Ref Sequence

ENSEMBL: ENSMUSP00000023612 (fasta)

Gene Model

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

AlphaFold

P15037

Predicted Effect

probably damaging
Transcript: ENSMUST00000023612
AA Change: V438M

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

SMART Domains

Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: V438M

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

Meta Mutation Damage Score

0.5611

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113	Y17C	probably benign	Het
Apoa5	T	C	9: 46,270,295	V223A	probably damaging	Het
BC048403	T	C	10: 121,740,007	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939	C119Y	probably damaging	Het
Chat	T	C	14: 32,453,737	N122S	probably benign	Het
Col20a1	A	T	2: 180,984,403		probably benign	Het
Cyp2j9	A	T	4: 96,568,791	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318	Q31L	possibly damaging	Het
Eva1c	G	A	16: 90,904,250	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886	H477R	probably benign	Het
Fga	T	G	3: 83,031,514	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259		probably null	Het
L3hypdh	T	C	12: 72,077,242	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687		probably benign	Het
Map4k5	T	A	12: 69,824,598	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716		probably null	Het
Mllt1	A	G	17: 56,902,630	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603	T23N	probably benign	Het
Nop53	C	A	7: 15,942,887	K100N	probably benign	Het
Nrg1	C	A	8: 31,918,200	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489	H228Q	probably benign	Het
Pank4	A	G	4: 154,974,634	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,411,942	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519		probably null	Het
Prdx3	A	C	19: 60,873,183	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128	L408P	probably damaging	Het
Rdx	T	C	9: 52,065,874	I141T	probably benign	Het
Reep1	T	A	6: 71,708,001	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496	I41L	probably benign	Het
Slc39a12	G	A	2: 14,400,323	S242N	probably benign	Het
Slc9a2	T	A	1: 40,761,916	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527		probably benign	Het
Tg	G	T	15: 66,693,319	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864	C148R	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
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'- AACATCTGTCGGTCCCAGTG -3'
(R):5'- CTTTGGAGCAAGTGGGTCAG -3'

Sequencing Primer
(F):5'- CCCAGTGACAGTCAGGTTTTTCAG -3'
(R):5'- TGGGTCAGGACGGGCTTC -3'

Posted On

2015-11-11