Mutagenetix > Incidental Mutation

Incidental Mutation 'R4768:Etv1'

366292

Institutional Source

Beutler Lab

Gene Symbol

Etv1

Ensembl Gene

ENSMUSG00000004151

Gene Name

ets variant 1

Synonyms

Etsrp81, ER81

MMRRC Submission

042409-MU

Accession Numbers

Essential gene?

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

Stock #

R4768 (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 38877792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 44 (L44P)

Ref Sequence

ENSEMBL: ENSMUSP00000125676 (fasta)

Gene Model

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

AlphaFold

P41164

Predicted Effect

probably benign
Transcript: ENSMUST00000095767
AA Change: L84P

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

SMART Domains

Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151
AA Change: L84P

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: L44P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151
AA Change: L44P

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: L84P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151
AA Change: L84P

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: L44P

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

SMART Domains

Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: L44P

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
AA Change: L66P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151
AA Change: L66P

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: L66P

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

SMART Domains

Protein: ENSMUSP00000124705
Gene: ENSMUSG00000004151
AA Change: L66P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161513
AA Change: L100P

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

SMART Domains

Protein: ENSMUSP00000124166
Gene: ENSMUSG00000004151
AA Change: L100P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162563
AA Change: L84P

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

SMART Domains

Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151
AA Change: L84P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161980
AA Change: L26P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: L26P

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

noncoding transcript
Transcript: ENSMUST00000220492

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,628,579 (GRCm39)	Y419H	probably benign	Het
Adam28	A	G	14: 68,872,264 (GRCm39)	V326A	possibly damaging	Het
Amdhd1	T	A	10: 93,370,346 (GRCm39)	E164V	possibly damaging	Het
Arhgap5	T	C	12: 52,604,275 (GRCm39)	L29S	probably damaging	Het
Asb5	G	A	8: 55,038,031 (GRCm39)	D185N	probably benign	Het
Ascc3	T	C	10: 50,576,595 (GRCm39)	I850T	probably damaging	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
Bmp4	C	T	14: 46,623,381 (GRCm39)	R55Q	probably damaging	Het
Brd8dc	T	C	18: 34,714,005 (GRCm39)	R207G	probably damaging	Het
Cmas	T	C	6: 142,710,157 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,420,827 (GRCm39)	D531G	possibly damaging	Het
Fam13c	T	A	10: 70,387,580 (GRCm39)	I448N	probably damaging	Het
Fcsk	T	C	8: 111,618,766 (GRCm39)	T331A	probably benign	Het
Fut8	A	G	12: 77,412,054 (GRCm39)	K135E	probably benign	Het
Gabrg1	A	G	5: 70,911,516 (GRCm39)	F370S	probably damaging	Het
Ighv1-5	A	T	12: 114,477,143 (GRCm39)	M53K	probably damaging	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Krt27	T	A	11: 99,240,351 (GRCm39)	D189V	probably damaging	Het
Marf1	A	T	16: 13,949,461 (GRCm39)	F1033I	possibly damaging	Het
Mdfi	G	A	17: 48,135,475 (GRCm39)	T85M	probably damaging	Het
Mrgpra3	C	A	7: 47,239,476 (GRCm39)	R150L	possibly damaging	Het
Mst1r	C	A	9: 107,788,849 (GRCm39)	T456K	probably damaging	Het
Myh14	A	T	7: 44,263,099 (GRCm39)	M1734K	probably benign	Het
Myo1e	T	C	9: 70,277,751 (GRCm39)	I816T	possibly damaging	Het
Or7d10	A	C	9: 19,831,841 (GRCm39)	N112T	possibly damaging	Het
Or8b12	T	C	9: 37,658,177 (GRCm39)	L249P	probably damaging	Het
Or8b55	T	A	9: 38,727,245 (GRCm39)	Y149N	probably damaging	Het
Or8k28	A	T	2: 86,285,994 (GRCm39)	L207*	probably null	Het
Pde4d	A	G	13: 110,070,408 (GRCm39)	R6G	probably damaging	Het
Pilrb1	G	A	5: 137,855,788 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,085,334 (GRCm39)	Y199H	probably damaging	Het
Rxfp1	T	C	3: 79,594,175 (GRCm39)	D73G	probably damaging	Het
Ryr1	G	T	7: 28,704,246 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,057,284 (GRCm39)	E1068G	probably damaging	Het
Slc19a3	G	A	1: 83,000,834 (GRCm39)	T61I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Suclg2	T	G	6: 95,543,469 (GRCm39)	I321L	probably damaging	Het
Top3a	A	G	11: 60,653,316 (GRCm39)	F53L	probably damaging	Het
Ttn	C	T	2: 76,599,110 (GRCm39)		probably benign	Het
Upp2	T	C	2: 58,667,907 (GRCm39)	V182A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,602 (GRCm39)	L151P	probably damaging	Het
Xylt2	T	C	11: 94,561,298 (GRCm39)	D155G	probably benign	Het
Zzz3	A	G	3: 152,154,420 (GRCm39)	D557G	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
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'- GCAGAGCACAGGAAATGTCC -3'
(R):5'- CAAATGGGTCTTTAGAGTTCTGC -3'

Sequencing Primer
(F):5'- ATGTCCAGAATAGAGTATCAAATGC -3'
(R):5'- GATGTAACCCATAACATTGACTTGAG -3'

Posted On

2015-12-21