Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01376:Etv1'

78735

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 #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

38829655-38920484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38907039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 347 (D347V)

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: D347V

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

SMART Domains

Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151
AA Change: D347V

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: D307V

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

SMART Domains

Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151
AA Change: D307V

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: D324V

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

SMART Domains

Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151
AA Change: D324V

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: D244V

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

SMART Domains

Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: D244V

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: D329V

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

SMART Domains

Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151
AA Change: D329V

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: D289V

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

SMART Domains

Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: D289V

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: D347V

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

SMART Domains

Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151
AA Change: D347V

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,245,640 (GRCm39)	I61K	probably benign	Het
Acot12	A	G	13: 91,932,790 (GRCm39)	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,510,524 (GRCm39)	N313D	probably benign	Het
Cdk14	T	C	5: 5,060,839 (GRCm39)	I327M	probably damaging	Het
Clca3b	T	C	3: 144,531,812 (GRCm39)	N664S	possibly damaging	Het
Cpb1	A	C	3: 20,324,488 (GRCm39)	L62R	probably benign	Het
Cracdl	A	G	1: 37,667,425 (GRCm39)	L207P	probably damaging	Het
Eef2	G	A	10: 81,013,883 (GRCm39)		probably benign	Het
Enox1	T	C	14: 77,489,283 (GRCm39)		probably benign	Het
Esco1	A	T	18: 10,594,892 (GRCm39)	C131*	probably null	Het
Fat1	A	G	8: 45,479,878 (GRCm39)	I2975V	probably benign	Het
Ghsr	A	G	3: 27,425,977 (GRCm39)	E11G	probably benign	Het
Gins4	T	C	8: 23,717,343 (GRCm39)	D166G	probably benign	Het
Iglv2	G	T	16: 19,079,315 (GRCm39)	H62N	possibly damaging	Het
Irf2bp1	T	C	7: 18,739,952 (GRCm39)	S531P	possibly damaging	Het
Lrig3	T	A	10: 125,830,335 (GRCm39)	F144L	probably benign	Het
Magi1	C	T	6: 94,260,074 (GRCm39)	R77Q	possibly damaging	Het
Mlkl	A	G	8: 112,046,379 (GRCm39)	L298P	probably damaging	Het
Ndc1	T	C	4: 107,232,394 (GRCm39)	L193P	probably damaging	Het
Npas3	A	T	12: 54,091,369 (GRCm39)	T308S	probably benign	Het
Nt5dc3	A	T	10: 86,670,028 (GRCm39)	Q541L	probably benign	Het
Or10ag53	T	C	2: 87,083,217 (GRCm39)	V312A	possibly damaging	Het
Or8k37	A	C	2: 86,469,953 (GRCm39)	V33G	probably benign	Het
Parp10	G	T	15: 76,125,877 (GRCm39)	T437K	probably benign	Het
Phf3	A	G	1: 30,869,566 (GRCm39)	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Sars2	T	A	7: 28,449,308 (GRCm39)	Y307N	probably damaging	Het
Serping1	A	T	2: 84,600,529 (GRCm39)	V271E	probably damaging	Het
Sgpl1	G	A	10: 60,949,849 (GRCm39)	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,483,437 (GRCm39)	L297R	probably damaging	Het
Strbp	A	G	2: 37,535,663 (GRCm39)	M15T	probably damaging	Het
Tdp2	A	G	13: 25,020,932 (GRCm39)		probably null	Het
Tex10	T	C	4: 48,456,740 (GRCm39)	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,210,169 (GRCm39)	S92T	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
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
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