Mutagenetix > Incidental Mutation

Incidental Mutation 'R8747:Ets1'

663610

Institutional Source

Beutler Lab

Gene Symbol

Ets1

Ensembl Gene

ENSMUSG00000032035

Gene Name

E26 avian leukemia oncogene 1, 5' domain

Synonyms

Ets-1, Tpl1, p51Ets-1, vs, p42Ets-1

MMRRC Submission

068618-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R8747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32547517-32669116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32641474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 109 (G109D)

Ref Sequence

ENSEMBL: ENSMUSP00000034534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034534] [ENSMUST00000050797] [ENSMUST00000184364] [ENSMUST00000184887]

AlphaFold

P27577

PDB Structure

Pax5(1-149)+Ets-1(331-440)+DNA [X-RAY DIFFRACTION]
Ets-1(331-440)+GGAA duplex [X-RAY DIFFRACTION]
Ets-1(331-440)+GGAG duplex [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF AN INHIBITED FRAGMENT OF Ets-1 [X-RAY DIFFRACTION]
INHIBITED FRAGMENT OF ETS-1 AND PAIRED DOMAIN OF PAX5 BOUND TO DNA [X-RAY DIFFRACTION]
NMR-based structure of autoinhibited murine Ets-1 deltaN301 [SOLUTION NMR]
Ets-1 PNT domain (29-138) NMR structure ensemble [SOLUTION NMR]
Ras signaling requires dynamic properties of Ets1 for phosphorylation-enhanced binding to co-activator CBP [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034534
AA Change: G109D

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

SMART Domains

Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: G109D

Domain	Start	End	E-Value	Type
SAM_PNT	53	136	2.56e-48	SMART
low complexity region	266	278	N/A	INTRINSIC
ETS	334	419	1.98e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050797
AA Change: G109D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035
AA Change: G109D

Domain	Start	End	E-Value	Type
SAM_PNT	53	136	2.56e-48	SMART
ETS	247	332	1.98e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184364

SMART Domains

Protein: ENSMUSP00000139107
Gene: ENSMUSG00000032035

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
ETS	118	203	1.98e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000184887
AA Change: G109D

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

SMART Domains

Protein: ENSMUSP00000138951
Gene: ENSMUSG00000032035
AA Change: G109D

Domain	Start	End	E-Value	Type
SAM_PNT	53	136	2.56e-48	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral CD8+ T cells, impaired TCR-mediated activation of both CD4+ and CD8+ T cells, increased numbers of IgM-secreting plasma cells, and severely impaired NK cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,240 (GRCm39)	D190G	probably benign	Het
Abhd11	A	G	5: 135,040,760 (GRCm39)	I271V	possibly damaging	Het
Akap6	T	G	12: 53,188,999 (GRCm39)	S2138A	probably benign	Het
Amn	C	A	12: 111,241,440 (GRCm39)	P235H	probably damaging	Het
Arf2	A	T	11: 103,859,975 (GRCm39)	M18L	probably benign	Het
Asic2	A	T	11: 81,043,233 (GRCm39)	F20Y	possibly damaging	Het
Bok	T	C	1: 93,622,664 (GRCm39)		probably null	Het
Cachd1	T	A	4: 100,860,045 (GRCm39)		probably benign	Het
Casp8	A	G	1: 58,883,617 (GRCm39)	N308S	probably benign	Het
Cavin3	G	T	7: 105,131,154 (GRCm39)	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,891,646 (GRCm39)	I713V	probably benign	Het
Clcn6	A	T	4: 148,093,354 (GRCm39)		probably null	Het
Cmas	T	C	6: 142,716,927 (GRCm39)	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,610,378 (GRCm39)	D65V	probably damaging	Het
D130040H23Rik	C	A	8: 69,755,705 (GRCm39)	N387K	probably benign	Het
Depp1	T	A	6: 116,629,122 (GRCm39)	L155Q	possibly damaging	Het
Dnah9	T	C	11: 65,818,816 (GRCm39)	K3174R	possibly damaging	Het
Ecpas	C	T	4: 58,828,632 (GRCm39)	V934I	probably damaging	Het
Efcab14	A	G	4: 115,603,793 (GRCm39)	N157S	probably damaging	Het
Fbln5	G	A	12: 101,734,754 (GRCm39)	R173C	probably damaging	Het
Fchsd1	G	A	18: 38,096,035 (GRCm39)	P525L	probably benign	Het
Gmppa	G	A	1: 75,416,025 (GRCm39)	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,603,482 (GRCm39)	D182G		Het
Ift140	T	A	17: 25,254,809 (GRCm39)	S430T	probably benign	Het
Kat7	G	C	11: 95,185,392 (GRCm39)	C161W	probably damaging	Het
Lipk	T	A	19: 33,996,184 (GRCm39)	M32K	probably damaging	Het
Lum	A	T	10: 97,404,351 (GRCm39)	D82V	possibly damaging	Het
Macf1	C	A	4: 123,248,944 (GRCm39)	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,964,782 (GRCm39)	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555 (GRCm39)	R549I	probably damaging	Het
Nfu1	T	C	6: 86,996,400 (GRCm39)	I117T	probably damaging	Het
Or51f1	T	C	7: 102,506,139 (GRCm39)	T117A	probably benign	Het
Or7a39	A	G	10: 78,715,155 (GRCm39)	T50A	probably benign	Het
Parp1	T	C	1: 180,422,275 (GRCm39)	L778P	probably damaging	Het
Pbld2	G	T	10: 62,888,069 (GRCm39)	V125F	probably benign	Het
Prkag2	A	G	5: 25,085,680 (GRCm39)		probably null	Het
Prss54	A	G	8: 96,286,351 (GRCm39)	F241L	probably benign	Het
Rnf121	T	C	7: 101,678,316 (GRCm39)	D177G	probably damaging	Het
Slc12a7	G	A	13: 73,933,241 (GRCm39)	V100I	probably benign	Het
Slc28a1	C	T	7: 80,774,719 (GRCm39)	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,488,219 (GRCm39)	Q16R	probably damaging	Het
Snap91	A	G	9: 86,686,577 (GRCm39)	F354L	probably damaging	Het
Steap2	A	G	5: 5,723,539 (GRCm39)	I447T	probably benign	Het
Tagap	T	A	17: 8,147,602 (GRCm39)	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,387,318 (GRCm39)	D259G	probably benign	Het
Tgm3	T	C	2: 129,886,452 (GRCm39)	S558P	probably benign	Het
Tuba3a	A	G	6: 125,258,018 (GRCm39)	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232 (GRCm39)	I61L	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,451 (GRCm39)	T252A	probably benign	Het
Vmp1	A	G	11: 86,492,885 (GRCm39)	V308A	probably damaging	Het
Wdfy4	A	C	14: 32,874,611 (GRCm39)	V159G		Het
Zfp180	A	G	7: 23,804,687 (GRCm39)	T369A	possibly damaging	Het
Zfp827	A	G	8: 79,755,316 (GRCm39)	M1V	probably null	Het
Zmym4	A	G	4: 126,787,198 (GRCm39)	I1031T	probably damaging	Het

Other mutations in Ets1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Ets1	APN	9	32,664,222 (GRCm39)	intron	probably benign
IGL00899:Ets1	APN	9	32,664,104 (GRCm39)	missense	probably damaging	1.00
IGL01615:Ets1	APN	9	32,644,235 (GRCm39)	splice site	probably benign
IGL01867:Ets1	APN	9	32,645,455 (GRCm39)	missense	probably damaging	0.99
IGL02424:Ets1	APN	9	32,665,589 (GRCm39)	nonsense	probably null
IGL03204:Ets1	APN	9	32,644,308 (GRCm39)	missense	possibly damaging	0.64
Chamois	UTSW	9	32,649,614 (GRCm39)	missense	probably damaging	1.00
Ecru	UTSW	9	32,645,256 (GRCm39)	nonsense	probably null
Fawn	UTSW	9	32,664,153 (GRCm39)	nonsense	probably null
R0479:Ets1	UTSW	9	32,641,476 (GRCm39)	missense	probably damaging	1.00
R0659:Ets1	UTSW	9	32,649,589 (GRCm39)	missense	probably damaging	1.00
R0839:Ets1	UTSW	9	32,645,357 (GRCm39)	nonsense	probably null
R5009:Ets1	UTSW	9	32,644,295 (GRCm39)	missense	possibly damaging	0.85
R5590:Ets1	UTSW	9	32,640,094 (GRCm39)	splice site	probably benign
R6367:Ets1	UTSW	9	32,645,256 (GRCm39)	nonsense	probably null
R6423:Ets1	UTSW	9	32,649,611 (GRCm39)	missense	probably damaging	0.97
R6517:Ets1	UTSW	9	32,664,093 (GRCm39)	critical splice acceptor site	probably null
R6584:Ets1	UTSW	9	32,645,293 (GRCm39)	missense	probably damaging	1.00
R7347:Ets1	UTSW	9	32,644,328 (GRCm39)	splice site	probably null
R7414:Ets1	UTSW	9	32,664,153 (GRCm39)	nonsense	probably null
R7688:Ets1	UTSW	9	32,607,720 (GRCm39)	missense	probably benign	0.10
R8730:Ets1	UTSW	9	32,649,614 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCGTCAGCTCTGTTTCGG -3'
(R):5'- TCTATACCATGGCTGAACACCC -3'

Sequencing Primer
(F):5'- AGCTCTGTTTCGGCCCTTC -3'
(R):5'- TGGCTGAACACCCACAGG -3'

Posted On

2021-03-08