Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01387:Etv1'

79075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Etv1

Ensembl Gene

ENSMUSG00000004151

Gene Name

ets variant 1

Synonyms

Etsrp81, ER81

Accession Numbers

Essential gene?

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

Stock #

IGL01387

Quality Score

Status

Chromosome

Chromosomal Location

38829655-38920484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38911326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 384 (M384R)

Ref Sequence

ENSEMBL: ENSMUSP00000125157 (fasta)

Gene Model

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

AlphaFold

P41164

Predicted Effect

probably damaging
Transcript: ENSMUST00000095767
AA Change: M384R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151
AA Change: M384R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159334
AA Change: M344R

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151
AA Change: M344R

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

possibly damaging
Transcript: ENSMUST00000160244
AA Change: M361R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151
AA Change: M361R

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: M281R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: M281R

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: M366R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151
AA Change: M366R

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

noncoding transcript
Transcript: ENSMUST00000161591

Predicted Effect

probably damaging
Transcript: ENSMUST00000161980
AA Change: M326R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: M326R

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: M384R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151
AA Change: M384R

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: ENSMUST00000162730

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,835,596 (GRCm39)	I288T	possibly damaging	Het
Akr1c13	T	A	13: 4,247,794 (GRCm39)		probably null	Het
Ano2	T	C	6: 125,990,240 (GRCm39)	L787P	probably damaging	Het
Arf4	A	T	14: 26,374,300 (GRCm39)	I73F	possibly damaging	Het
Atp6v1e1	A	G	6: 120,772,732 (GRCm39)		probably null	Het
Ccdc9	A	C	7: 16,018,424 (GRCm39)	M1R	probably null	Het
Cep162	A	G	9: 87,093,864 (GRCm39)	L838S	probably benign	Het
Cfap251	T	A	5: 123,421,609 (GRCm39)	I654N	probably damaging	Het
Cfi	T	A	3: 129,668,562 (GRCm39)		probably benign	Het
Creb3l3	T	C	10: 80,927,110 (GRCm39)	T107A	probably benign	Het
Erlin2	T	C	8: 27,526,576 (GRCm39)	L312P	probably benign	Het
Exph5	G	T	9: 53,285,265 (GRCm39)	S782I	possibly damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Fsip2	A	G	2: 82,823,326 (GRCm39)	N6353S	possibly damaging	Het
Gk5	T	C	9: 96,059,607 (GRCm39)		probably null	Het
Gm11168	T	G	9: 3,005,128 (GRCm39)	S202R	possibly damaging	Het
Hdlbp	T	C	1: 93,341,310 (GRCm39)	D1016G	possibly damaging	Het
Kpna4	A	G	3: 69,009,590 (GRCm39)		probably benign	Het
Lrrn2	T	C	1: 132,866,096 (GRCm39)	V387A	possibly damaging	Het
Or4a76	T	A	2: 89,460,964 (GRCm39)	R93*	probably null	Het
Or5bw2	A	G	7: 6,573,854 (GRCm39)	Y288C	probably damaging	Het
Or6c33	T	A	10: 129,853,710 (GRCm39)	M160K	probably damaging	Het
Or8g23	A	G	9: 38,971,617 (GRCm39)	L115S	probably damaging	Het
Or8k37	T	C	2: 86,469,594 (GRCm39)	T153A	probably benign	Het
Plekhs1	A	G	19: 56,459,403 (GRCm39)	Q51R	probably benign	Het
Rab27b	T	A	18: 70,118,380 (GRCm39)	D179V	possibly damaging	Het
Rprd2	C	T	3: 95,672,631 (GRCm39)	R924H	probably benign	Het
Shprh	T	C	10: 11,045,998 (GRCm39)	I905T	probably damaging	Het
Trpm8	T	C	1: 88,271,009 (GRCm39)	L433P	probably damaging	Het
Urb1	A	G	16: 90,554,649 (GRCm39)	L1861S	possibly damaging	Het
Vmn2r124	C	A	17: 18,283,188 (GRCm39)	T294K	probably damaging	Het
Znrf3	A	T	11: 5,288,656 (GRCm39)	C37*	probably null	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
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
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

Posted On

2013-11-05