Mutagenetix > Incidental Mutation

Incidental Mutation 'R7545:Ets2'

584191

Institutional Source

Beutler Lab

Gene Symbol

Ets2

Ensembl Gene

ENSMUSG00000022895

Gene Name

E26 avian leukemia oncogene 2, 3' domain

Synonyms

Ets-2

MMRRC Submission

045650-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95503274-95522093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95516127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 236 (Q236K)

Ref Sequence

ENSEMBL: ENSMUSP00000023612 (fasta)

Gene Model

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

AlphaFold

P15037

Predicted Effect

probably benign
Transcript: ENSMUST00000023612
AA Change: Q236K

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: Q236K

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,696,040 (GRCm39)	Y159H	probably damaging	Het
A1cf	A	T	19: 31,912,190 (GRCm39)	N435I	possibly damaging	Het
Aasdh	A	T	5: 77,027,861 (GRCm39)	F849I	probably damaging	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Acnat1	A	T	4: 49,449,142 (GRCm39)	L208*	probably null	Het
Adam26b	C	T	8: 43,974,750 (GRCm39)	G84D	probably damaging	Het
Adamtsl1	A	T	4: 85,683,092 (GRCm39)	E54D	probably damaging	Het
Ang6	T	G	14: 44,239,636 (GRCm39)	I31L	probably benign	Het
Asic4	A	G	1: 75,449,060 (GRCm39)	N403S	probably damaging	Het
Bicd1	G	A	6: 149,414,990 (GRCm39)	V568M	probably benign	Het
Ccdc192	A	G	18: 57,863,895 (GRCm39)	E233G	probably damaging	Het
Cfap45	A	T	1: 172,366,163 (GRCm39)	M339L	probably benign	Het
Cnga4	A	G	7: 105,056,286 (GRCm39)	D399G	probably damaging	Het
Csnk1g3	C	T	18: 54,028,897 (GRCm39)	R17W	probably damaging	Het
Dnah11	A	G	12: 117,894,939 (GRCm39)	F3636S	probably damaging	Het
Dscaml1	A	T	9: 45,596,681 (GRCm39)	T842S	probably benign	Het
Ext2	C	A	2: 93,644,108 (GRCm39)	V58L	probably benign	Het
Fam135b	T	C	15: 71,322,359 (GRCm39)	K1269E	possibly damaging	Het
Fech	A	G	18: 64,597,185 (GRCm39)	L258P	probably damaging	Het
Gls	A	G	1: 52,230,311 (GRCm39)	S467P	probably damaging	Het
Gm19410	T	A	8: 36,269,779 (GRCm39)	D1141E	probably damaging	Het
Gm45861	T	G	8: 28,071,032 (GRCm39)	M1246R	unknown	Het
Gm6902	T	A	7: 22,973,087 (GRCm39)	I147L	probably benign	Het
Itga7	G	T	10: 128,769,775 (GRCm39)		probably benign	Het
Itpripl1	A	T	2: 126,983,581 (GRCm39)	C180*	probably null	Het
Klhl33	C	A	14: 51,130,631 (GRCm39)	V28F	probably damaging	Het
Kmo	A	T	1: 175,481,194 (GRCm39)	D304V	probably damaging	Het
Mier2	T	C	10: 79,377,028 (GRCm39)	N537S	possibly damaging	Het
Mroh9	A	G	1: 162,902,277 (GRCm39)	I112T	possibly damaging	Het
Mterf1a	T	A	5: 3,940,995 (GRCm39)	E291V	probably damaging	Het
Muc5ac	T	A	7: 141,362,405 (GRCm39)	N1905K	unknown	Het
Myt1l	G	A	12: 29,877,087 (GRCm39)	R246Q	unknown	Het
Nav2	A	G	7: 49,232,605 (GRCm39)	E1854G	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,300,350 (GRCm39)	D287E	probably benign	Het
Nfyc	T	C	4: 120,630,966 (GRCm39)		probably null	Het
Obscn	A	T	11: 58,929,725 (GRCm39)	D5163E	probably damaging	Het
Or10d4c	C	T	9: 39,558,403 (GRCm39)	P127L	probably damaging	Het
Or8g28	T	A	9: 39,169,984 (GRCm39)		probably null	Het
Plppr1	A	T	4: 49,320,002 (GRCm39)	L209F	possibly damaging	Het
Pmm1	T	C	15: 81,835,803 (GRCm39)	D226G	probably damaging	Het
Polr1b	T	A	2: 128,959,766 (GRCm39)		probably null	Het
Ppp2r5a	A	G	1: 191,104,806 (GRCm39)	V80A	probably benign	Het
Pramel17	T	A	4: 101,695,159 (GRCm39)	I51L	probably benign	Het
Psrc1	A	G	3: 108,293,759 (GRCm39)		probably null	Het
Ralbp1	T	C	17: 66,174,593 (GRCm39)	T60A	probably benign	Het
Rasal2	A	T	1: 157,020,339 (GRCm39)	S217T	possibly damaging	Het
Rnase12	A	G	14: 51,294,395 (GRCm39)	F95L	probably damaging	Het
Rnf152	A	T	1: 105,211,957 (GRCm39)	I200K	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Ryk	C	T	9: 102,765,672 (GRCm39)	T327I	probably damaging	Het
Sell	A	T	1: 163,892,903 (GRCm39)	T40S	probably benign	Het
Slc15a2	G	A	16: 36,595,964 (GRCm39)	H153Y	probably damaging	Het
Slit3	A	G	11: 35,591,139 (GRCm39)	D1317G	possibly damaging	Het
Slx4	G	A	16: 3,817,164 (GRCm39)	T19M	probably benign	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Specc1l	T	C	10: 75,080,921 (GRCm39)	S106P	probably benign	Het
Speer1a	C	A	5: 11,394,884 (GRCm39)	Q124K	possibly damaging	Het
Stc2	T	C	11: 31,317,799 (GRCm39)	N74S	probably damaging	Het
Strn3	A	T	12: 51,674,543 (GRCm39)	S498T	probably damaging	Het
Sva	C	T	6: 42,019,148 (GRCm39)	T106I	probably benign	Het
Tle3	T	A	9: 61,301,984 (GRCm39)	L131Q	possibly damaging	Het
Tmem135	T	A	7: 88,954,727 (GRCm39)	R97W	probably damaging	Het
Tmx4	A	G	2: 134,451,425 (GRCm39)	L176S	possibly damaging	Het
Tomm20l	C	A	12: 71,164,171 (GRCm39)		probably null	Het
Topors	A	T	4: 40,262,173 (GRCm39)	F370L	possibly damaging	Het
Ulk4	T	C	9: 120,970,904 (GRCm39)	T1023A	probably benign	Het
Unc13a	C	T	8: 72,094,153 (GRCm39)		probably null	Het
Urb2	T	C	8: 124,756,491 (GRCm39)	S733P	probably benign	Het
Vwf	A	G	6: 125,591,060 (GRCm39)	D750G		Het
Xylt1	G	A	7: 117,192,812 (GRCm39)	D373N	probably benign	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
R7905:Ets2	UTSW	16	95,507,304 (GRCm39)	missense	probably damaging	0.97
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'- ACTCTTGGCACCAGGATACC -3'
(R):5'- CAAGCATCTCTCATCCTGACTG -3'

Sequencing Primer
(F):5'- TGGGTCTAGCTATTGGAACACTGAC -3'
(R):5'- TGGCTTCCAGGACAATCCAATAATAG -3'

Posted On

2019-10-17