Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Ets1'

390362

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

042600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R5009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32547517-32669116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32644295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 152 (S152P)

Ref Sequence

ENSEMBL: ENSMUSP00000138951 (fasta)

Gene Model

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

AlphaFold

P27577

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034534
AA Change: S152P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: S152P

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: S152P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035
AA Change: S152P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183879

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

possibly damaging
Transcript: ENSMUST00000184887
AA Change: S152P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138951
Gene: ENSMUSG00000032035
AA Change: S152P

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

Meta Mutation Damage Score

0.0941

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	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
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
R8747:Ets1	UTSW	9	32,641,474 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCTGTAGTGTGCTTACAGAC -3'
(R):5'- CGCAGGAACTTTGTAGACTGG -3'

Sequencing Primer
(F):5'- TTGCAGGTCACATGTCAC -3'
(R):5'- CAGGAACTTTGTAGACTGGTAAACAC -3'

Posted On

2016-06-06