Incidental Mutation 'R6423:Ets1'
ID 518242
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 044386-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.894) question?
Stock # R6423 (G1)
Quality Score 206.009
Status Not validated
Chromosome 9
Chromosomal Location 32547517-32669116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32649611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 316 (K316R)
Ref Sequence ENSEMBL: ENSMUSP00000034534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034534] [ENSMUST00000050797] [ENSMUST00000184364] [ENSMUST00000184887]
AlphaFold P27577
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]
CRYSTAL STRUCTURE OF AN INHIBITED FRAGMENT OF Ets-1 [X-RAY DIFFRACTION]
INHIBITED FRAGMENT OF ETS-1 AND PAIRED DOMAIN OF PAX5 BOUND TO DNA [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 damaging
Transcript: ENSMUST00000034534
AA Change: K316R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: K316R

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 benign
Transcript: ENSMUST00000050797
SMART Domains Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035

DomainStartEndE-ValueType
SAM_PNT 53 136 2.56e-48 SMART
ETS 247 332 1.98e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184364
AA Change: K100R

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139107
Gene: ENSMUSG00000032035
AA Change: K100R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SAM_PNT 53 136 2.56e-48 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,778 (GRCm39) M2842L probably benign Het
Actl7b T C 4: 56,741,213 (GRCm39) I48M probably benign Het
Adgrb1 G T 15: 74,459,992 (GRCm39) probably null Het
Arhgap10 G T 8: 78,244,386 (GRCm39) S9R probably damaging Het
Bcl11b T C 12: 107,881,678 (GRCm39) E807G possibly damaging Het
Chia1 A G 3: 106,036,304 (GRCm39) T295A possibly damaging Het
Cnrip1 T C 11: 17,002,350 (GRCm39) probably null Het
Fbxo4 C T 15: 3,995,274 (GRCm39) V357I possibly damaging Het
Flnc G A 6: 29,445,155 (GRCm39) probably null Het
Foxf1 G A 8: 121,811,834 (GRCm39) G233R possibly damaging Het
H2-DMa A G 17: 34,356,170 (GRCm39) I57M probably benign Het
Insr C T 8: 3,223,566 (GRCm39) V856I probably benign Het
Iqub T C 6: 24,491,528 (GRCm39) D386G probably damaging Het
Kcna3 C A 3: 106,944,158 (GRCm39) Y140* probably null Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Mgam A G 6: 40,653,979 (GRCm39) Y844C possibly damaging Het
Nbeal2 T C 9: 110,455,062 (GRCm39) Q2605R probably damaging Het
Ncor2 A G 5: 125,164,966 (GRCm39) I316T unknown Het
Nell2 A T 15: 95,425,163 (GRCm39) F63Y probably damaging Het
Or11l3 T C 11: 58,516,189 (GRCm39) I228V probably damaging Het
Qrfprl A G 6: 65,433,077 (GRCm39) N299S probably benign Het
Zfp386 A G 12: 116,023,733 (GRCm39) I449V probably damaging 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
R0839:Ets1 UTSW 9 32,645,357 (GRCm39) nonsense probably null
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
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'- CTTTTGAGAGCGTAGAGAGCTAC -3'
(R):5'- GCGAACCCTTGAGAATGAATG -3'

Sequencing Primer
(F):5'- CGATAGTTGTGACCGCCTC -3'
(R):5'- GGCTTCCAAAAATCAGTGGCTTC -3'
Posted On 2018-05-24