Mutagenetix > Incidental Mutation

Incidental Mutation 'R9182:Etv1'

697134

Institutional Source

Beutler Lab

Gene Symbol

Etv1

Ensembl Gene

ENSMUSG00000004151

Gene Name

ets variant 1

Synonyms

Etsrp81, ER81

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.448) question?

Stock #

R9182 (G1)

Quality Score

136.008

Status

Validated

Chromosome

Chromosomal Location

38829655-38920484 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 38830716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095767] [ENSMUST00000159334] [ENSMUST00000160244] [ENSMUST00000160701] [ENSMUST00000160856] [ENSMUST00000160996] [ENSMUST00000161164] [ENSMUST00000162563] [ENSMUST00000162563] [ENSMUST00000161513] [ENSMUST00000161980]

AlphaFold

P41164

Predicted Effect

probably benign
Transcript: ENSMUST00000095767

SMART Domains

Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151

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 benign
Transcript: ENSMUST00000159334

SMART Domains

Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151

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 benign
Transcript: ENSMUST00000160244

SMART Domains

Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151

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 benign
Transcript: ENSMUST00000160701

SMART Domains

Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151

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 benign
Transcript: ENSMUST00000160856

SMART Domains

Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151

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 benign
Transcript: ENSMUST00000160996

SMART Domains

Protein: ENSMUSP00000124705
Gene: ENSMUSG00000004151

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161164

Predicted Effect

probably null
Transcript: ENSMUST00000162563

SMART Domains

Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151

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

probably null
Transcript: ENSMUST00000162563

SMART Domains

Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151

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

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 benign
Transcript: ENSMUST00000161980

SMART Domains

Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (99/99)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,243,473 (GRCm39)	M190K	probably damaging	Het
4931406B18Rik	A	G	7: 43,153,640 (GRCm39)	W3R	probably damaging	Het
Acap3	T	C	4: 155,989,892 (GRCm39)	L720P	probably damaging	Het
Actc1	T	C	2: 113,882,494 (GRCm39)	T7A	probably benign	Het
Angpt2	T	A	8: 18,760,658 (GRCm39)		probably null	Het
Babam2	T	A	5: 32,058,401 (GRCm39)	D228E	possibly damaging	Het
Ccar1	G	A	10: 62,621,347 (GRCm39)	L34F	probably damaging	Het
Ccdc83	T	C	7: 89,886,102 (GRCm39)	D219G	probably damaging	Het
Cct2	A	G	10: 116,892,025 (GRCm39)	V341A	probably benign	Het
Cdc20b	G	A	13: 113,208,503 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,838,737 (GRCm39)	L1312Q	probably damaging	Het
Cltc	G	A	11: 86,595,982 (GRCm39)	T1252I	probably damaging	Het
Cnpy1	G	T	5: 28,450,799 (GRCm39)	D2E	possibly damaging	Het
Crat	C	T	2: 30,298,085 (GRCm39)	V205M	probably damaging	Het
Cspg4b	A	G	13: 113,457,358 (GRCm39)	N1135D		Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dglucy	T	C	12: 100,811,028 (GRCm39)	V254A	possibly damaging	Het
Disp3	A	G	4: 148,354,841 (GRCm39)	S392P	probably damaging	Het
Dlx6	A	T	6: 6,863,456 (GRCm39)	Q26L	probably benign	Het
Dnah3	T	C	7: 119,684,351 (GRCm39)	D258G	probably damaging	Het
Dnah6	A	T	6: 73,121,688 (GRCm39)	Y1431*	probably null	Het
Dnah7b	T	C	1: 46,330,038 (GRCm39)	I3294T	probably benign	Het
Dnai2	A	G	11: 114,623,839 (GRCm39)	N34S	probably benign	Het
Dock2	T	C	11: 34,260,398 (GRCm39)	K981R	possibly damaging	Het
Entpd8	T	C	2: 24,971,931 (GRCm39)	I33T	probably benign	Het
Eppk1	A	G	15: 75,995,453 (GRCm39)	L476P	probably benign	Het
Fads2b	T	C	2: 85,330,581 (GRCm39)	H242R	probably benign	Het
Fam193a	T	A	5: 34,623,361 (GRCm39)	N1316K	possibly damaging	Het
Fkbp4	T	C	6: 128,415,382 (GRCm39)	E31G	probably benign	Het
Fnbp1l	C	T	3: 122,363,345 (GRCm39)	D81N	probably damaging	Het
Fstl4	T	C	11: 53,024,905 (GRCm39)	V259A	probably damaging	Het
Glipr1l1	T	C	10: 111,912,056 (GRCm39)	S197P	probably damaging	Het
Gprin3	A	T	6: 59,331,197 (GRCm39)	M370K	probably benign	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gys2	T	G	6: 142,391,735 (GRCm39)	Y509S	probably damaging	Het
Gys2	T	C	6: 142,406,978 (GRCm39)	N126S	possibly damaging	Het
Hmcn1	A	T	1: 150,488,405 (GRCm39)	W4292R	probably damaging	Het
Hmcn1	C	A	1: 150,500,337 (GRCm39)	E3952*	probably null	Het
Hsd3b9	C	T	3: 98,354,005 (GRCm39)	A165T	possibly damaging	Het
Htr1f	T	C	16: 64,746,825 (GRCm39)	M156V	probably benign	Het
Il21r	G	A	7: 125,228,213 (GRCm39)	G228E	probably benign	Het
Kat6b	C	T	14: 21,567,187 (GRCm39)	S82L	probably benign	Het
Kntc1	T	A	5: 123,940,355 (GRCm39)	L1651Q	probably damaging	Het
Lipi	G	T	16: 75,357,673 (GRCm39)	Y297*	probably null	Het
Mapre3	T	C	5: 31,022,016 (GRCm39)	S190P	possibly damaging	Het
Mmp8	T	A	9: 7,567,467 (GRCm39)	Y442*	probably null	Het
Mmut	A	G	17: 41,252,310 (GRCm39)	E284G	probably damaging	Het
Mt3	G	A	8: 94,880,615 (GRCm39)	E62K	unknown	Het
Myh13	A	G	11: 67,228,579 (GRCm39)	E373G	probably damaging	Het
Myh7	T	C	14: 55,226,374 (GRCm39)	Y422C	probably damaging	Het
Nalcn	A	G	14: 123,834,016 (GRCm39)	V53A	probably damaging	Het
Nucb2	A	G	7: 116,121,070 (GRCm39)		probably null	Het
Opn5	A	T	17: 42,903,890 (GRCm39)	H148Q	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,782 (GRCm39)	L117F	probably benign	Het
Or51h1	A	T	7: 102,308,927 (GRCm39)	I300L	probably damaging	Het
Or51v14	T	C	7: 103,261,063 (GRCm39)	K166E	possibly damaging	Het
Or6b1	A	T	6: 42,815,010 (GRCm39)	N65I	probably benign	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or8b56	C	A	9: 38,739,172 (GRCm39)	H56N	probably damaging	Het
Osmr	T	A	15: 6,850,569 (GRCm39)	D679V	probably damaging	Het
Pde4dip	T	C	3: 97,602,314 (GRCm39)	D2305G	probably benign	Het
Pdgfrl	A	T	8: 41,429,996 (GRCm39)	Q121L	probably damaging	Het
Pls1	C	A	9: 95,658,811 (GRCm39)	V226F	probably damaging	Het
Plxnd1	T	A	6: 115,970,746 (GRCm39)	I341F	probably damaging	Het
Ppfia2	T	A	10: 106,763,640 (GRCm39)	M1211K	probably benign	Het
Ppfibp2	T	A	7: 107,308,053 (GRCm39)	Y229N	possibly damaging	Het
Prss53	A	G	7: 127,487,554 (GRCm39)	S266P	probably benign	Het
Pycr2	C	T	1: 180,734,397 (GRCm39)	Q226*	probably null	Het
Rad50	T	C	11: 53,583,590 (GRCm39)	H397R	probably benign	Het
Raf1	T	C	6: 115,600,440 (GRCm39)	E393G	probably damaging	Het
Reln	T	C	5: 22,106,617 (GRCm39)	D3251G	probably benign	Het
Robo4	A	T	9: 37,313,206 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,173,806 (GRCm39)		probably null	Het
Serpinb6a	T	C	13: 34,109,360 (GRCm39)	D145G	probably damaging	Het
Setx	T	A	2: 29,061,299 (GRCm39)	M2236K	probably damaging	Het
Sgms1	A	G	19: 32,101,758 (GRCm39)	V416A	probably benign	Het
Six5	T	G	7: 18,830,932 (GRCm39)	S520A	probably benign	Het
Sox5	T	A	6: 143,779,118 (GRCm39)	I722F	possibly damaging	Het
Spag17	T	G	3: 99,966,158 (GRCm39)	I1147S	possibly damaging	Het
Spice1	C	T	16: 44,206,065 (GRCm39)	T842I	possibly damaging	Het
Ssbp2	A	G	13: 91,848,800 (GRCm39)	T358A	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tbc1d2b	C	A	9: 90,152,652 (GRCm39)	C38F	probably damaging	Het
Tecrl	C	A	5: 83,457,049 (GRCm39)		probably null	Het
Tgm7	T	C	2: 120,926,980 (GRCm39)	N390D	probably benign	Het
Thsd4	T	G	9: 59,894,649 (GRCm39)	M770L	probably benign	Het
Tmod2	C	A	9: 75,504,624 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,308,905 (GRCm39)		probably null	Het
Tox3	T	C	8: 90,984,507 (GRCm39)	N224S	probably benign	Het
Trappc10	C	T	10: 78,050,464 (GRCm39)	E326K	probably damaging	Het
Usp16	T	A	16: 87,276,542 (GRCm39)	F627I	probably benign	Het
Vcam1	T	C	3: 115,911,004 (GRCm39)	I465V	probably benign	Het
Vmn1r128	T	C	7: 21,083,683 (GRCm39)	I129T	possibly damaging	Het
Vmn1r217	T	A	13: 23,298,495 (GRCm39)	I136L	probably benign	Het
Vmn2r2	A	T	3: 64,044,802 (GRCm39)	C115S	probably damaging	Het
Vmn2r85	A	C	10: 130,265,350 (GRCm39)	S44R	probably benign	Het
Wasf3	T	A	5: 146,403,635 (GRCm39)	Y248*	probably null	Het
Yipf5	A	T	18: 40,343,851 (GRCm39)	L127M	probably damaging	Het
Zbp1	G	T	2: 173,050,933 (GRCm39)	C312*	probably null	Het
Zfp423	A	T	8: 88,508,742 (GRCm39)	F534Y	probably damaging	Het
Zfp69	T	G	4: 120,792,308 (GRCm39)	Y156S	probably damaging	Het
Zmat4	A	G	8: 24,419,226 (GRCm39)	N155S	probably damaging	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
R4678:Etv1	UTSW	12	38,885,219 (GRCm39)	missense	probably damaging	1.00
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
R9687:Etv1	UTSW	12	38,911,361 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTCGTTGATCGCCATTGC -3'
(R):5'- CTTGCTGGTCATAAAATCCATCC -3'

Sequencing Primer
(F):5'- GATCGCCATTGCTAGTTTTGC -3'
(R):5'- AGCTAATTACCCTCGACAG -3'

Posted On

2022-02-07