Incidental Mutation 'R2094:Etv1'
ID 231984
Institutional Source Beutler Lab
Gene Symbol Etv1
Ensembl Gene ENSMUSG00000004151
Gene Name ets variant 1
Synonyms Etsrp81, ER81
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 38829655-38920484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38885115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 143 (P143Q)
Ref Sequence ENSEMBL: ENSMUSP00000124736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095767] [ENSMUST00000159334] [ENSMUST00000160244] [ENSMUST00000160701] [ENSMUST00000160701] [ENSMUST00000160856] [ENSMUST00000160996] [ENSMUST00000162563] [ENSMUST00000161980] [ENSMUST00000161980] [ENSMUST00000161513] [ENSMUST00000161513]
AlphaFold P41164
Predicted Effect probably null
Transcript: ENSMUST00000095767
AA Change: P201Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151
AA Change: P201Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 1 333 5e-153 PFAM
ETS 334 419 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159334
AA Change: P161Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151
AA Change: P161Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 16 293 1.1e-112 PFAM
ETS 294 379 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160244
AA Change: P201Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151
AA Change: P201Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 1 310 2.5e-133 PFAM
ETS 311 396 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160701
AA Change: P98Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: P98Q

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000160701
AA Change: P98Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: P98Q

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000160856
AA Change: P183Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151
AA Change: P183Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 1 315 3.8e-130 PFAM
ETS 316 401 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160996
AA Change: P183Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124705
Gene: ENSMUSG00000004151
AA Change: P183Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 1 230 1.9e-85 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162563
AA Change: P201Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151
AA Change: P201Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 1 333 5.6e-150 PFAM
ETS 334 419 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161980
AA Change: P143Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: P143Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 10 275 3.2e-104 PFAM
ETS 276 361 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161980
AA Change: P143Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: P143Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 10 275 3.2e-104 PFAM
ETS 276 361 1.72e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161513
AA Change: P217Q

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124166
Gene: ENSMUSG00000004151
AA Change: P217Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 23 210 8.5e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161513
AA Change: P217Q

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124166
Gene: ENSMUSG00000004151
AA Change: P217Q

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 23 210 8.5e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220492
Meta Mutation Damage Score 0.1448 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign Het
Other mutations in Etv1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GAGAAATCTGAGGCTCACTAAAGC -3'
(R):5'- TCCATAAGAGGATGGGCATACC -3'

Sequencing Primer
(F):5'- CTGAGGCTCACTAAAGCTATTGAC -3'
(R):5'- ATGGGCATACCTGAGTCATATGC -3'
Posted On 2014-09-18