Mutagenetix > Incidental Mutation

Incidental Mutation 'R8730:Ets1'

662709

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

068578-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R8730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32547517-32669116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32649614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 317 (D317V)

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: D317V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: D317V

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

SMART Domains

Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035

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
AA Change: D101V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139107
Gene: ENSMUSG00000032035
AA Change: D101V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184887

SMART Domains

Protein: ENSMUSP00000138951
Gene: ENSMUSG00000032035

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

Meta Mutation Damage Score

0.1902

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	C	5: 8,208,830 (GRCm39)	S200A	probably benign	Het
Adgrg3	G	A	8: 95,766,556 (GRCm39)	R409H	probably benign	Het
Aldh1l2	C	T	10: 83,342,506 (GRCm39)	V548M	possibly damaging	Het
Ampd1	T	A	3: 102,992,676 (GRCm39)	C143*	probably null	Het
Angpt4	A	G	2: 151,771,467 (GRCm39)	Q261R	probably damaging	Het
Ccar1	T	C	10: 62,601,191 (GRCm39)	K491E	probably damaging	Het
Cd177	A	T	7: 24,457,501 (GRCm39)	M180K	possibly damaging	Het
Dcst2	C	T	3: 89,280,553 (GRCm39)	R620C	probably damaging	Het
Dcun1d4	T	A	5: 73,688,832 (GRCm39)		probably benign	Het
Dhrs1	T	A	14: 55,980,978 (GRCm39)	T103S	probably benign	Het
Dnah2	A	G	11: 69,384,087 (GRCm39)	L1043P	possibly damaging	Het
Eci3	A	T	13: 35,144,405 (GRCm39)	N19K	probably benign	Het
Fem1c	T	C	18: 46,638,668 (GRCm39)	I445V	possibly damaging	Het
Gabpb1	T	C	2: 126,492,484 (GRCm39)	I176M	possibly damaging	Het
Gm6563	A	T	19: 23,653,429 (GRCm39)	K73I	probably damaging	Het
Grap2	A	G	15: 80,532,140 (GRCm39)	R252G	possibly damaging	Het
Gsx1	T	C	5: 147,126,651 (GRCm39)	L158P	probably damaging	Het
Hand2	T	A	8: 57,775,468 (GRCm39)	V176E	probably benign	Het
Hey2	G	T	10: 30,718,622 (GRCm39)	T8K	possibly damaging	Het
Igsf3	T	C	3: 101,334,532 (GRCm39)	I203T	probably benign	Het
Itgax	G	A	7: 127,739,066 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,725,139 (GRCm39)	I212V	possibly damaging	Het
Kcnu1	G	T	8: 26,403,708 (GRCm39)	V740L	probably damaging	Het
Kcnv1	A	G	15: 44,972,797 (GRCm39)	I362T	probably damaging	Het
Klhdc9	C	T	1: 171,186,488 (GRCm39)	G316D	probably damaging	Het
Mcmbp	T	C	7: 128,317,738 (GRCm39)	E169G	probably damaging	Het
Muc20	G	T	16: 32,599,490 (GRCm39)	H645N	probably benign	Het
Nrm	A	G	17: 36,175,423 (GRCm39)	T52A	probably benign	Het
Or13a23-ps1	T	C	7: 140,119,197 (GRCm39)	S256P	unknown	Het
Or14c41	A	G	7: 86,235,259 (GRCm39)	K259E	probably benign	Het
Or2y3	A	T	17: 38,392,925 (GRCm39)	*315K	probably null	Het
Or4c105	T	A	2: 88,648,043 (GRCm39)	M176K	possibly damaging	Het
Or4g7	T	A	2: 111,309,934 (GRCm39)	D268E	probably damaging	Het
Or51f23	T	C	7: 102,453,348 (GRCm39)	V221A	probably benign	Het
Pde11a	A	T	2: 75,889,334 (GRCm39)	N713K	probably damaging	Het
Pfpl	T	C	19: 12,405,944 (GRCm39)	L65S	probably damaging	Het
Prox1	A	G	1: 189,894,238 (GRCm39)	V69A	possibly damaging	Het
Prss39	A	G	1: 34,539,198 (GRCm39)	H146R	probably damaging	Het
Pxt1	A	T	17: 29,153,702 (GRCm39)	F44I	possibly damaging	Het
Rbp3	A	G	14: 33,677,795 (GRCm39)	D581G	probably benign	Het
Rims2	A	G	15: 39,381,239 (GRCm39)	T1057A	probably benign	Het
Robo1	G	A	16: 72,786,495 (GRCm39)	G836R	probably benign	Het
Slc34a3	A	T	2: 25,122,057 (GRCm39)	S155T	possibly damaging	Het
Slc35d1	T	C	4: 103,030,951 (GRCm39)	Y308C		Het
Slfn9	T	C	11: 82,878,194 (GRCm39)	I312V	possibly damaging	Het
St3gal5	T	A	6: 72,130,461 (GRCm39)	L351Q	probably damaging	Het
Tanc1	A	G	2: 59,601,590 (GRCm39)	D157G	probably benign	Het
Tmprss11g	C	T	5: 86,638,837 (GRCm39)		probably null	Het
Tnpo1	A	T	13: 98,989,916 (GRCm39)	I745N	probably benign	Het
Uggt1	C	A	1: 36,236,624 (GRCm39)		probably null	Het
Ugt8a	G	A	3: 125,732,105 (GRCm39)		probably benign	Het
Urod	T	C	4: 116,850,729 (GRCm39)		probably benign	Het
Vmn1r211	A	T	13: 23,035,838 (GRCm39)	Y276*	probably null	Het
Vwa3a	T	A	7: 120,381,910 (GRCm39)	S582T	probably damaging	Het
Zfp869	A	T	8: 70,159,177 (GRCm39)	C465*	probably null	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
R8747:Ets1	UTSW	9	32,641,474 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTTGAGAGCGTAGAGAGC -3'
(R):5'- GCGAACCCTTGAGAATGAATGATAC -3'

Sequencing Primer
(F):5'- AGCTTCGACTACGAGGAT -3'
(R):5'- GGCTTCCAAAAATCAGTGGCTTC -3'

Posted On

2021-03-08