Incidental Mutation 'R0839:Ets1'
ID 78109
Institutional Source Beutler Lab
Gene Symbol Ets1
Ensembl Gene ENSMUSG00000032035
Gene Name E26 avian leukemia oncogene 1, 5' domain
Synonyms Ets-1, Tpl1, p51Ets-1, vs, p42Ets-1
MMRRC Submission 039018-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.894) question?
Stock # R0839 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 32547517-32669116 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 32645357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 201 (Y201*)
Ref Sequence ENSEMBL: ENSMUSP00000138951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034534] [ENSMUST00000050797] [ENSMUST00000184364] [ENSMUST00000184887]
AlphaFold P27577
Predicted Effect probably null
Transcript: ENSMUST00000034534
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: Y201*

DomainStartEndE-ValueType
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: Y201*
SMART Domains Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035
AA Change: Y201*

DomainStartEndE-ValueType
SAM_PNT 53 136 2.56e-48 SMART
ETS 247 332 1.98e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183879
Predicted Effect probably benign
Transcript: ENSMUST00000184364
SMART Domains Protein: ENSMUSP00000139107
Gene: ENSMUSG00000032035

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
ETS 118 203 1.98e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000184887
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000138951
Gene: ENSMUSG00000032035
AA Change: Y201*

DomainStartEndE-ValueType
SAM_PNT 53 136 2.56e-48 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,920,527 (GRCm39) V1083M probably damaging Het
Aco2 A G 15: 81,791,736 (GRCm39) probably null Het
AI661453 A T 17: 47,747,752 (GRCm39) Q8L probably null Het
Ankrd42 T C 7: 92,261,980 (GRCm39) D295G possibly damaging Het
Ccdc73 A T 2: 104,821,442 (GRCm39) I464L probably benign Het
Cdc5l A C 17: 45,704,073 (GRCm39) M717R probably benign Het
Col4a1 G A 8: 11,271,015 (GRCm39) P809S probably damaging Het
Dctn1 T C 6: 83,167,459 (GRCm39) M358T possibly damaging Het
Dgkz A G 2: 91,765,456 (GRCm39) S799P probably benign Het
Dna2 T C 10: 62,805,561 (GRCm39) C933R probably damaging Het
Dock6 T C 9: 21,729,188 (GRCm39) N1275S probably benign Het
Ect2l A G 10: 18,017,652 (GRCm39) I659T probably benign Het
Gle1 T A 2: 29,848,462 (GRCm39) C679S probably benign Het
Gm10118 T G 10: 63,762,643 (GRCm39) probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
H2-Q7 A G 17: 35,658,688 (GRCm39) S109G probably damaging Het
Igfn1 A G 1: 135,882,418 (GRCm39) V2809A probably damaging Het
Izumo1 T A 7: 45,276,536 (GRCm39) D366E probably benign Het
Kctd20 A T 17: 29,176,872 (GRCm39) M1L possibly damaging Het
Lct C T 1: 128,214,346 (GRCm39) A1809T probably benign Het
Manea T C 4: 26,327,983 (GRCm39) I353V probably damaging Het
Mybl2 T C 2: 162,917,688 (GRCm39) Y65H probably benign Het
Myh11 C T 16: 14,021,042 (GRCm39) E1744K probably damaging Het
Neb T C 2: 52,167,560 (GRCm39) D1922G probably damaging Het
Nepro C A 16: 44,556,382 (GRCm39) D513E probably benign Het
Nnt A T 13: 119,531,192 (GRCm39) I185K possibly damaging Het
Npat A T 9: 53,456,480 (GRCm39) Q17L probably damaging Het
Nup155 A G 15: 8,175,071 (GRCm39) E956G possibly damaging Het
Or1e35 T A 11: 73,798,138 (GRCm39) Y60F probably damaging Het
Or1x6 A G 11: 50,939,254 (GRCm39) I107V probably benign Het
Or2a14 T A 6: 43,130,558 (GRCm39) F106L probably benign Het
Or4q3 A G 14: 50,583,545 (GRCm39) V118A probably damaging Het
Or8g18 A T 9: 39,149,146 (GRCm39) N191K possibly damaging Het
Or8g4 A T 9: 39,661,687 (GRCm39) I2L probably benign Het
Or9e1 G A 11: 58,732,478 (GRCm39) M179I probably benign Het
Pah T C 10: 87,357,924 (GRCm39) S16P probably damaging Het
Pcdh15 C A 10: 74,462,614 (GRCm39) P1365Q probably null Het
Pds5b G T 5: 150,688,427 (GRCm39) V640F probably benign Het
Pgam5 A T 5: 110,414,996 (GRCm39) H72Q probably benign Het
Plagl2 C A 2: 153,074,461 (GRCm39) A147S probably damaging Het
Ppfia4 A T 1: 134,256,545 (GRCm39) L113Q probably null Het
Ppp1r12a T C 10: 108,034,722 (GRCm39) V89A probably damaging Het
Ptprc A G 1: 138,028,870 (GRCm39) Y443H possibly damaging Het
Ralgapb T C 2: 158,315,203 (GRCm39) probably null Het
Rgsl1 A G 1: 153,677,980 (GRCm39) probably null Het
Rubcn A C 16: 32,647,713 (GRCm39) I681M probably damaging Het
Scaf11 A G 15: 96,321,434 (GRCm39) L169S probably damaging Het
Scgb1b27 A G 7: 33,721,276 (GRCm39) K55E probably benign Het
Sos1 A T 17: 80,741,159 (GRCm39) I542N probably damaging Het
Syf2 T A 4: 134,663,374 (GRCm39) V182D probably damaging Het
Tapbp T C 17: 34,144,717 (GRCm39) V271A probably benign Het
Tmem33 T A 5: 67,421,651 (GRCm39) L60Q probably damaging Het
Tmf1 A G 6: 97,153,284 (GRCm39) V263A probably damaging Het
Vps13c T C 9: 67,806,020 (GRCm39) V798A probably benign Het
Zfp384 C A 6: 125,013,631 (GRCm39) D550E probably benign Het
Other mutations in Ets1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00733:Ets1 APN 9 32,664,222 (GRCm39) intron probably benign
IGL00899:Ets1 APN 9 32,664,104 (GRCm39) missense probably damaging 1.00
IGL01615:Ets1 APN 9 32,644,235 (GRCm39) splice site probably benign
IGL01867:Ets1 APN 9 32,645,455 (GRCm39) missense probably damaging 0.99
IGL02424:Ets1 APN 9 32,665,589 (GRCm39) nonsense probably null
IGL03204:Ets1 APN 9 32,644,308 (GRCm39) missense possibly damaging 0.64
Chamois UTSW 9 32,649,614 (GRCm39) missense probably damaging 1.00
Ecru UTSW 9 32,645,256 (GRCm39) nonsense probably null
Fawn UTSW 9 32,664,153 (GRCm39) nonsense probably null
R0479:Ets1 UTSW 9 32,641,476 (GRCm39) missense probably damaging 1.00
R0659:Ets1 UTSW 9 32,649,589 (GRCm39) missense probably damaging 1.00
R5009:Ets1 UTSW 9 32,644,295 (GRCm39) missense possibly damaging 0.85
R5590:Ets1 UTSW 9 32,640,094 (GRCm39) splice site probably benign
R6367:Ets1 UTSW 9 32,645,256 (GRCm39) nonsense probably null
R6423:Ets1 UTSW 9 32,649,611 (GRCm39) missense probably damaging 0.97
R6517:Ets1 UTSW 9 32,664,093 (GRCm39) critical splice acceptor site probably null
R6584:Ets1 UTSW 9 32,645,293 (GRCm39) missense probably damaging 1.00
R7347:Ets1 UTSW 9 32,644,328 (GRCm39) splice site probably null
R7414:Ets1 UTSW 9 32,664,153 (GRCm39) nonsense probably null
R7688:Ets1 UTSW 9 32,607,720 (GRCm39) missense probably benign 0.10
R8730:Ets1 UTSW 9 32,649,614 (GRCm39) missense probably damaging 1.00
R8747:Ets1 UTSW 9 32,641,474 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCCCAGTGTCTCCAACTGTAAAC -3'
(R):5'- TCACGGCAGAAAAGTCTTCTTGTCC -3'

Sequencing Primer
(F):5'- AGTGTCTCCAACTGTAAACATTCTC -3'
(R):5'- GCAGAAAAGTCTTCTTGTCCATACAC -3'
Posted On 2013-10-16