Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Etv1'

349797

Institutional Source

Beutler Lab

Gene Symbol

Etv1

Ensembl Gene

ENSMUSG00000004151

Gene Name

ets variant 1

Synonyms

Etsrp81, ER81

MMRRC Submission

041931-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38829655-38920484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38885219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 236 (Y236H)

Ref Sequence

ENSEMBL: ENSMUSP00000125157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095767] [ENSMUST00000159334] [ENSMUST00000160244] [ENSMUST00000160701] [ENSMUST00000160856] [ENSMUST00000160996] [ENSMUST00000161513] [ENSMUST00000161980] [ENSMUST00000162563]

AlphaFold

P41164

Predicted Effect

probably damaging
Transcript: ENSMUST00000095767
AA Change: Y236H

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

SMART Domains

Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151
AA Change: Y236H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	333	5e-153	PFAM
ETS	334	419	1.72e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159334
AA Change: Y196H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151
AA Change: Y196H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	16	293	1.1e-112	PFAM
ETS	294	379	1.72e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160244
AA Change: Y236H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151
AA Change: Y236H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	310	2.5e-133	PFAM
ETS	311	396	1.72e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160701
AA Change: Y133H

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

SMART Domains

Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: Y133H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	14	82	1.4e-30	PFAM
Pfam:ETS_PEA3_N	80	230	1.6e-68	PFAM
ETS	231	316	1.72e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160856
AA Change: Y218H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151
AA Change: Y218H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	315	3.8e-130	PFAM
ETS	316	401	1.72e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160996
AA Change: Y218H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124705
Gene: ENSMUSG00000004151
AA Change: Y218H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	230	1.9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161513

SMART Domains

Protein: ENSMUSP00000124166
Gene: ENSMUSG00000004151

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	23	210	8.5e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161980
AA Change: Y178H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: Y178H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	10	275	3.2e-104	PFAM
ETS	276	361	1.72e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162563
AA Change: Y236H

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

SMART Domains

Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151
AA Change: Y236H

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	333	5.6e-150	PFAM
ETS	334	419	1.72e-57	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220492

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

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 (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dlg2	A	G	7: 92,077,788 (GRCm39)	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mid1	C	A	X: 168,768,044 (GRCm39)	D130E	possibly damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Nup98	A	T	7: 101,834,038 (GRCm39)	L308H	probably damaging	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 106,107,003 (GRCm39)	Y899*	probably null	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Strn	A	C	17: 78,984,780 (GRCm39)	F288V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Trpm8	T	C	1: 88,264,851 (GRCm39)	V320A	probably benign	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	probably benign	Het

Other mutations in Etv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Etv1	APN	12	38,831,791 (GRCm39)	splice site	probably benign
IGL01376:Etv1	APN	12	38,907,039 (GRCm39)	missense	probably damaging	1.00
IGL01387:Etv1	APN	12	38,911,326 (GRCm39)	missense	probably damaging	0.99
IGL01936:Etv1	APN	12	38,885,060 (GRCm39)	splice site	probably benign
IGL02388:Etv1	APN	12	38,831,798 (GRCm39)	missense	possibly damaging	0.62
IGL02933:Etv1	APN	12	38,831,832 (GRCm39)	missense	probably benign	0.22
R0844:Etv1	UTSW	12	38,911,353 (GRCm39)	missense	probably damaging	1.00
R0993:Etv1	UTSW	12	38,877,863 (GRCm39)	missense	probably damaging	1.00
R1187:Etv1	UTSW	12	38,915,563 (GRCm39)	missense	probably damaging	1.00
R1710:Etv1	UTSW	12	38,902,261 (GRCm39)	missense	probably benign	0.18
R2094:Etv1	UTSW	12	38,885,115 (GRCm39)	missense	probably null	1.00
R2879:Etv1	UTSW	12	38,833,809 (GRCm39)	splice site	probably null
R3607:Etv1	UTSW	12	38,881,085 (GRCm39)	missense	probably damaging	1.00
R4353:Etv1	UTSW	12	38,907,105 (GRCm39)	missense	probably damaging	1.00
R4646:Etv1	UTSW	12	38,915,685 (GRCm39)	missense	possibly damaging	0.94
R4768:Etv1	UTSW	12	38,877,792 (GRCm39)	missense	probably damaging	1.00
R4812:Etv1	UTSW	12	38,911,287 (GRCm39)	missense	probably damaging	1.00
R4877:Etv1	UTSW	12	38,881,292 (GRCm39)	splice site	probably null
R5024:Etv1	UTSW	12	38,904,233 (GRCm39)	splice site	probably null
R5253:Etv1	UTSW	12	38,902,248 (GRCm39)	missense	possibly damaging	0.50
R5936:Etv1	UTSW	12	38,885,209 (GRCm39)	missense	probably damaging	1.00
R6085:Etv1	UTSW	12	38,904,194 (GRCm39)	missense	probably damaging	1.00
R6167:Etv1	UTSW	12	38,915,640 (GRCm39)	missense	possibly damaging	0.88
R6709:Etv1	UTSW	12	38,833,796 (GRCm39)	missense	possibly damaging	0.93
R7046:Etv1	UTSW	12	38,834,369 (GRCm39)	splice site	probably null
R7243:Etv1	UTSW	12	38,907,045 (GRCm39)	missense	probably benign	0.36
R7616:Etv1	UTSW	12	38,915,605 (GRCm39)	missense	probably damaging	1.00
R8230:Etv1	UTSW	12	38,830,935 (GRCm39)	start codon destroyed	probably null	1.00
R9021:Etv1	UTSW	12	38,830,971 (GRCm39)	missense	probably benign	0.01
R9182:Etv1	UTSW	12	38,830,716 (GRCm39)	critical splice donor site	probably null
R9687:Etv1	UTSW	12	38,911,361 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACACGCTCTCTTCTCCAG -3'
(R):5'- TGCCCTCAACTGTAGAAAGTCC -3'

Sequencing Primer
(F):5'- TCCAGATTTCGCCGCCAG -3'
(R):5'- TGGTTAGATGGCACCCAGTCTAAC -3'

Posted On

2015-10-08