Incidental Mutation 'R7414:Ets1'
Institutional Source Beutler Lab
Gene Symbol Ets1
Ensembl Gene ENSMUSG00000032035
Gene NameE26 avian leukemia oncogene 1, 5' domain
SynonymsTpl1, Ets-1, p51Ets-1, p42Ets-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.901) question?
Stock #R7414 (G1)
Quality Score225.009
Status Validated
Chromosomal Location32636221-32757820 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 32752857 bp
Amino Acid Change Cysteine to Stop codon at position 350 (C350*)
Ref Sequence ENSEMBL: ENSMUSP00000034534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034534] [ENSMUST00000050797] [ENSMUST00000184364] [ENSMUST00000184887]
PDB Structure
Pax5(1-149)+Ets-1(331-440)+DNA [X-RAY DIFFRACTION]
Ets-1(331-440)+GGAA duplex [X-RAY DIFFRACTION]
Ets-1(331-440)+GGAG duplex [X-RAY DIFFRACTION]
NMR-based structure of autoinhibited murine Ets-1 deltaN301 [SOLUTION NMR]
Ets-1 PNT domain (29-138) NMR structure ensemble [SOLUTION NMR]
Ras signaling requires dynamic properties of Ets1 for phosphorylation-enhanced binding to co-activator CBP [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000034534
AA Change: C350*
SMART Domains Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: C350*

SAM_PNT 53 136 2.56e-48 SMART
low complexity region 266 278 N/A INTRINSIC
ETS 334 419 1.98e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000050797
AA Change: C263*
SMART Domains Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035
AA Change: C263*

SAM_PNT 53 136 2.56e-48 SMART
ETS 247 332 1.98e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000184364
AA Change: C134*
SMART Domains Protein: ENSMUSP00000139107
Gene: ENSMUSG00000032035
AA Change: C134*

low complexity region 50 62 N/A INTRINSIC
ETS 118 203 1.98e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184887
SMART Domains Protein: ENSMUSP00000138951
Gene: ENSMUSG00000032035

SAM_PNT 53 136 2.56e-48 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (98/101)
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 family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral CD8+ T cells, impaired TCR-mediated activation of both CD4+ and CD8+ T cells, increased numbers of IgM-secreting plasma cells, and severely impaired NK cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,364,024 T90M probably damaging Het
4922502D21Rik T C 6: 129,325,633 T144A probably benign Het
Abca4 T A 3: 122,102,738 S540T probably benign Het
Adcy4 G A 14: 55,781,633 L156F probably benign Het
Adcyap1 T A 17: 93,202,828 L95M probably damaging Het
Ahctf1 T C 1: 179,784,105 T567A probably benign Het
Ankrd26 T C 6: 118,508,780 I1378V possibly damaging Het
Ankrd44 T A 1: 54,667,380 H639L probably damaging Het
Arfrp1 C T 2: 181,359,514 R189Q possibly damaging Het
Astn2 T C 4: 65,540,956 D1126G possibly damaging Het
Bap1 G C 14: 31,253,615 G139R probably benign Het
Bms1 C T 6: 118,383,745 R1254Q possibly damaging Het
C330027C09Rik T C 16: 49,001,635 F209L probably benign Het
Ceacam15 A G 7: 16,673,310 V94A probably benign Het
Cfap57 C T 4: 118,614,931 V84I not run Het
Clock T C 5: 76,262,764 T87A probably benign Het
Cntrl A T 2: 35,165,467 I1706L probably benign Het
Cr2 C A 1: 195,150,036 V981L probably benign Het
Cxcr6 G A 9: 123,810,222 W103* probably null Het
Dld A T 12: 31,335,526 F272Y probably damaging Het
Dmrt2 T A 19: 25,673,586 D45E probably benign Het
Eif2a T A 3: 58,526,081 L8* probably null Het
Epg5 G T 18: 77,983,532 R1246L possibly damaging Het
Fam135b C T 15: 71,478,256 R345Q probably damaging Het
Fam196a G T 7: 134,918,009 A264D probably benign Het
Fbn2 C T 18: 58,096,050 R696H probably damaging Het
Gbf1 C A 19: 46,283,358 Y159* probably null Het
Gcsam T C 16: 45,616,938 probably null Het
Gmpr2 G T 14: 55,672,802 probably null Het
H2-T3 C A 17: 36,187,383 V257L not run Het
Hadha A G 5: 30,126,612 F449L possibly damaging Het
Haus3 T A 5: 34,166,133 I378L probably benign Het
Hdac7 T A 15: 97,808,511 H272L probably benign Het
Icam5 T C 9: 21,037,593 V747A probably damaging Het
Ifrd2 G A 9: 107,590,171 V81M possibly damaging Het
Ipcef1 G T 10: 6,890,673 C345* probably null Het
Ipmk T A 10: 71,381,294 F223I probably damaging Het
Itpr2 A T 6: 146,373,208 N825K probably benign Het
Kazn G A 4: 142,109,338 T530I Het
Kmt2d C T 15: 98,839,856 V5120M unknown Het
Krt6b T G 15: 101,679,014 D215A probably benign Het
Lgals12 T C 19: 7,603,970 K124R probably damaging Het
Lpar6 T A 14: 73,238,800 V67D probably damaging Het
Lrch3 T C 16: 32,998,513 Y661H probably damaging Het
Lrrc32 A T 7: 98,499,994 Q660H probably benign Het
Lurap1l T A 4: 80,953,754 H161Q probably benign Het
Map3k19 A G 1: 127,838,452 I245T probably damaging Het
Mcf2l T A 8: 13,019,022 *1119K probably null Het
Mertk C A 2: 128,729,393 A89E possibly damaging Het
Mical3 A T 6: 121,034,113 Y375N probably damaging Het
Myo15 T A 11: 60,483,483 D121E Het
N4bp2l1 T A 5: 150,576,293 N116I probably damaging Het
Nbeal1 T C 1: 60,194,597 probably null Het
Nlrp12 A T 7: 3,241,347 D178E probably benign Het
Nt5c2 C A 19: 46,889,889 G444C probably damaging Het
Olfr38 T A 6: 42,762,828 Y259N probably damaging Het
Olfr912 T C 9: 38,581,468 F64L probably benign Het
Olfr978 T A 9: 39,994,053 M81K possibly damaging Het
Pdcl2 A C 5: 76,312,512 S220A possibly damaging Het
Pip5kl1 T C 2: 32,578,235 S138P possibly damaging Het
Pkd1l1 A T 11: 8,916,267 N979K Het
Prkcb A T 7: 122,568,227 T387S possibly damaging Het
Pxdc1 A G 13: 34,637,152 probably benign Het
Sbf2 C T 7: 110,314,064 E1668K possibly damaging Het
Sec16a T G 2: 26,423,631 T455P Het
Sec24b C A 3: 130,009,865 V412F probably benign Het
Serpina3b A G 12: 104,132,886 N220S probably benign Het
Sgip1 C T 4: 102,967,624 Q581* probably null Het
Shf A T 2: 122,359,582 I175N possibly damaging Het
Slc16a10 G A 10: 40,141,996 T14M probably benign Het
Slc22a4 A T 11: 53,997,428 M258K probably benign Het
Slfn8 A T 11: 83,016,792 Y308* probably null Het
Slfnl1 T C 4: 120,535,254 Y249H probably damaging Het
Smchd1 T C 17: 71,475,079 Y29C probably damaging Het
Snai1 C A 2: 167,538,668 probably null Het
Sntg1 T C 1: 8,448,065 Y368C probably damaging Het
Snx33 C T 9: 56,925,867 R306H probably damaging Het
Spop G A 11: 95,474,508 V126M probably damaging Het
Ssfa2 A G 2: 79,644,728 K344E possibly damaging Het
Taar3 A T 10: 23,949,817 Y87F probably damaging Het
Tarm1 C A 7: 3,496,802 M177I probably benign Het
Tcerg1l A G 7: 138,218,057 F485L probably damaging Het
Thsd7b A T 1: 129,628,980 I435F probably damaging Het
Tiam2 A G 17: 3,414,113 D39G possibly damaging Het
Tigd4 T C 3: 84,593,821 V15A probably benign Het
Tll2 T C 19: 41,103,829 D523G probably damaging Het
Tmem117 A G 15: 94,714,895 D104G probably damaging Het
Tmem132b T C 5: 125,787,491 L887P probably damaging Het
Tnfrsf26 A T 7: 143,614,905 V132D probably damaging Het
Tomt T A 7: 101,900,508 D191V probably damaging Het
Ttc39b T C 4: 83,242,222 M373V probably damaging Het
Ttn G A 2: 76,738,149 P27467S possibly damaging Het
Ttn A C 2: 76,742,786 V25921G probably damaging Het
Ubxn2a A C 12: 4,891,381 V75G probably damaging Het
Uchl5 A T 1: 143,806,695 K319N unknown Het
Ugt2b1 T C 5: 86,925,834 D222G probably damaging Het
Vmn1r213 A G 13: 23,011,276 I10V unknown Het
Vps13b T C 15: 35,910,827 I3579T probably damaging Het
Xpo5 T A 17: 46,221,369 H443Q probably benign Het
Zfp316 A G 5: 143,264,652 M2T unknown Het
Zscan4-ps2 A G 7: 11,517,432 T160A possibly damaging Het
Other mutations in Ets1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00733:Ets1 APN 9 32752926 intron probably benign
IGL00899:Ets1 APN 9 32752808 missense probably damaging 1.00
IGL01615:Ets1 APN 9 32732939 splice site probably benign
IGL01867:Ets1 APN 9 32734159 missense probably damaging 0.99
IGL02424:Ets1 APN 9 32754293 nonsense probably null
IGL03204:Ets1 APN 9 32733012 missense possibly damaging 0.64
Ecru UTSW 9 32733960 nonsense probably null
Fawn UTSW 9 32752857 nonsense probably null
R0479:Ets1 UTSW 9 32730180 missense probably damaging 1.00
R0659:Ets1 UTSW 9 32738293 missense probably damaging 1.00
R0839:Ets1 UTSW 9 32734061 nonsense probably null
R5009:Ets1 UTSW 9 32732999 missense possibly damaging 0.85
R5590:Ets1 UTSW 9 32728798 splice site probably benign
R6367:Ets1 UTSW 9 32733960 nonsense probably null
R6423:Ets1 UTSW 9 32738315 missense probably damaging 0.97
R6517:Ets1 UTSW 9 32752797 critical splice acceptor site probably null
R6584:Ets1 UTSW 9 32733997 missense probably damaging 1.00
R7347:Ets1 UTSW 9 32733032 splice site probably null
R7688:Ets1 UTSW 9 32696424 missense probably benign 0.10
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-10-07