Incidental Mutation 'R0056:Etv6'
ID17053
Institutional Source Beutler Lab
Gene Symbol Etv6
Ensembl Gene ENSMUSG00000030199
Gene Nameets variant 6
Synonymstranslocation-ets-leukemia, Tel
MMRRC Submission 038350-MU
Accession Numbers

Ncbi RefSeq: NM_007961.3; MGI: 109336

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0056 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location134035700-134270158 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 134248534 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 154 (E154*)
Ref Sequence ENSEMBL: ENSMUSP00000107594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081028] [ENSMUST00000111963] [ENSMUST00000164648]
Predicted Effect probably null
Transcript: ENSMUST00000081028
AA Change: E243*
SMART Domains Protein: ENSMUSP00000079818
Gene: ENSMUSG00000030199
AA Change: E243*

DomainStartEndE-ValueType
SAM_PNT 39 125 3.49e-41 SMART
ETS 334 420 7.02e-49 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111963
AA Change: E154*
SMART Domains Protein: ENSMUSP00000107594
Gene: ENSMUSG00000030199
AA Change: E154*

DomainStartEndE-ValueType
Pfam:SAM_PNT 1 36 1.3e-10 PFAM
ETS 245 331 7.02e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145869
Predicted Effect probably benign
Transcript: ENSMUST00000164648
SMART Domains Protein: ENSMUSP00000130761
Gene: ENSMUSG00000030199

DomainStartEndE-ValueType
SAM_PNT 38 124 3.49e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204426
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
MGI Phenotype Strain: 2177950; 3056143
Lethality: E11-E14
FUNCTION: This gene encodes a transcriptional repressor belonging to the ETS family of proteins. Knockout of this gene in mice results in embryonic lethality due to defective angiogenesis. In humans, this gene is often involved in chromosome rearrangements associated with specific cancers. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. [provided by MGI curators]
Allele List at MGI

All alleles(134) : Targeted(7) Gene trapped(127)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 A G 11: 89,391,676 S1061P possibly damaging Het
Atp9b A G 18: 80,765,803 S634P probably damaging Het
Bche A T 3: 73,701,321 N257K possibly damaging Het
Bms1 A T 6: 118,405,229 D449E probably benign Het
C630050I24Rik G T 8: 107,119,394 V59F unknown Het
Camkk2 C T 5: 122,742,198 E452K probably damaging Het
Ccdc121 T C 1: 181,510,553 Y278C probably damaging Het
Chd9 A G 8: 90,933,537 H375R possibly damaging Het
Entpd7 T A 19: 43,725,294 V364E probably benign Het
Epb41l3 A T 17: 69,253,397 D313V probably damaging Het
Fshr T G 17: 88,988,457 H274P probably damaging Het
G3bp1 A G 11: 55,498,041 N360D probably benign Het
Gdf11 C T 10: 128,886,425 R187H probably benign Het
Gm5346 A T 8: 43,625,503 C561* probably null Het
Gpihbp1 T A 15: 75,597,133 I52N probably damaging Het
H1foo G T 6: 115,946,973 probably benign Het
Htt T C 5: 34,826,078 probably benign Het
Iqcm A G 8: 75,753,386 Q324R probably benign Het
Kcng3 A G 17: 83,587,756 L427P probably damaging Het
Klk7 T C 7: 43,812,010 L17P possibly damaging Het
Klrd1 G A 6: 129,593,775 V50I probably benign Het
Lama5 A T 2: 180,187,106 probably benign Het
Lamtor3 T A 3: 137,926,950 probably benign Het
Lyplal1 G A 1: 186,088,566 T228I probably benign Het
Mapk6 A G 9: 75,388,816 Y467H possibly damaging Het
March6 T C 15: 31,467,734 T776A possibly damaging Het
Mogat1 T G 1: 78,523,770 M157R probably damaging Het
Morc2b T A 17: 33,138,759 Q13L possibly damaging Het
Myo1h C T 5: 114,330,212 T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 probably null Het
Nobox A G 6: 43,304,919 C407R probably benign Het
Nupl1 A G 14: 60,239,475 probably null Het
Olfr684 A G 7: 105,157,122 S187P probably benign Het
Otoa A G 7: 121,131,347 Y590C probably benign Het
Pelp1 A T 11: 70,393,832 V1070E unknown Het
Pglyrp3 G T 3: 92,025,804 probably benign Het
Plpp2 A G 10: 79,527,229 F189S probably damaging Het
Polr2b T C 5: 77,334,535 I640T possibly damaging Het
Ryr2 T A 13: 11,669,038 T3047S probably damaging Het
Snx25 A T 8: 46,038,513 W847R probably damaging Het
Son T C 16: 91,678,155 Y454H possibly damaging Het
Sos1 A T 17: 80,413,621 N923K probably damaging Het
Tex15 A G 8: 33,582,027 H2534R probably benign Het
Ticam2 G T 18: 46,560,334 Q229K possibly damaging Het
Tnfaip3 A T 10: 19,005,293 V342E probably damaging Het
Traf6 A G 2: 101,697,151 I415M possibly damaging Het
Trpm1 A G 7: 64,243,586 D1062G probably damaging Het
Wdr59 C T 8: 111,480,607 probably benign Het
Other mutations in Etv6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Etv6 APN 6 134248387 missense probably benign 0.41
IGL02028:Etv6 APN 6 134248733 missense probably benign 0.01
IGL02173:Etv6 APN 6 134248727 missense possibly damaging 0.68
IGL03074:Etv6 APN 6 134222925 missense probably damaging 0.98
R0295:Etv6 UTSW 6 134266275 missense probably benign 0.31
R2133:Etv6 UTSW 6 134248754 missense possibly damaging 0.92
R3763:Etv6 UTSW 6 134263012 splice site probably benign
R4405:Etv6 UTSW 6 134233534 missense probably damaging 1.00
R6901:Etv6 UTSW 6 134266458 missense probably benign 0.10
Protein Function and Prediction

Etv6 encodes ETV6 (alternatively, Tel), a member of the ETS family of transcriptional activators (1). ETV6 is frequently rearranged or fused with other genes (e.g., PDGFRB, ABL, MNI, and AML1) in human leukemias of myeloid or lymphoid origins (2;3). ETV6 has a sequence-specific DNA binding domain (i.e., the Ets domain) that can also mediate protein-protein interactions [reviewed in (4)]. At the C-terminus, ETV6 has a sterile alpha motif (SAM) domain.

Expression/Localization

Northern blot detected three transcripts (6.5 kb, 4.5 kb, and 2.4 kb) in all human tissues examined (5).

Background

Mutations in ETV6 have been linked to somatic acute myeloid leukemia [OMIM: 601626; (6)].

 

Etv6tm1Sho/tm1Sho; MGI: 2177950

involves: 129S4/SvJae * C57BL/6

Homozygotes exhibit embryonic lethality by E13.5, defective yolk sac angiogenesis, abnormal visceral yolk sac morphology, enlarged pericardium, and growth retardation (3).

 

Etv6tm2.1Sho/tm2.1Sho; MGI: 3056143

involves: 129S1/Sv

Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational (95% died by E11) lethality (7).

References
Posted On2013-01-20
Science WriterAnne Murray