Incidental Mutation 'IGL01911:Ets2'
ID 179809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ets2
Ensembl Gene ENSMUSG00000022895
Gene Name E26 avian leukemia oncogene 2, 3' domain
Synonyms Ets-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01911
Quality Score
Status
Chromosome 16
Chromosomal Location 95503274-95522093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95512802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 96 (R96H)
Ref Sequence ENSEMBL: ENSMUSP00000023612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023612] [ENSMUST00000155226]
AlphaFold P15037
Predicted Effect probably damaging
Transcript: ENSMUST00000023612
AA Change: R96H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: R96H

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
ETS 361 446 8.49e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145509
Predicted Effect probably damaging
Transcript: ENSMUST00000155226
AA Change: R96H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116638
Gene: ENSMUSG00000022895
AA Change: R96H

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 T C 1: 58,191,719 (GRCm39) F424L probably benign Het
Arhgap11a T C 2: 113,671,077 (GRCm39) T301A probably damaging Het
Atp9a C A 2: 168,495,481 (GRCm39) R575L probably damaging Het
Brca2 G A 5: 150,491,078 (GRCm39) D3088N probably damaging Het
Brd3 G A 2: 27,349,812 (GRCm39) T247I probably damaging Het
Btbd8 A G 5: 107,656,446 (GRCm39) H903R probably damaging Het
Cacna1i A G 15: 80,275,933 (GRCm39) N1908S probably benign Het
Ccdc40 A T 11: 119,122,797 (GRCm39) probably null Het
Cdyl T C 13: 36,047,226 (GRCm39) V389A probably damaging Het
Col28a1 A G 6: 8,014,963 (GRCm39) F814S probably damaging Het
Cstf3 T C 2: 104,476,976 (GRCm39) F149S probably damaging Het
Dglucy T C 12: 100,804,784 (GRCm39) Y122H probably damaging Het
Dram1 T C 10: 88,161,203 (GRCm39) D222G probably damaging Het
Gm11563 T A 11: 99,549,527 (GRCm39) R76* probably null Het
Gm17093 A C 14: 44,758,277 (GRCm39) probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpi1 A T 7: 33,920,347 (GRCm39) V136D probably damaging Het
Hfm1 G A 5: 107,059,410 (GRCm39) T204M possibly damaging Het
Itgae T C 11: 73,006,963 (GRCm39) I403T probably damaging Het
Krt75 A T 15: 101,476,537 (GRCm39) D409E probably damaging Het
Limk2 T G 11: 3,305,340 (GRCm39) T76P probably benign Het
Mtus2 A T 5: 148,015,030 (GRCm39) M608L probably benign Het
Obscn C A 11: 58,899,421 (GRCm39) E979* probably null Het
Or52ab7 T G 7: 102,978,480 (GRCm39) F262L probably benign Het
P2rx7 C T 5: 122,796,831 (GRCm39) A166V probably damaging Het
Pomgnt2 T C 9: 121,811,854 (GRCm39) E309G probably benign Het
Sbno2 A T 10: 79,905,458 (GRCm39) Y199* probably null Het
Setd2 C A 9: 110,446,499 (GRCm39) probably null Het
Slc66a1 A G 4: 139,028,384 (GRCm39) V186A probably benign Het
Vmn2r84 T A 10: 130,222,277 (GRCm39) I648F probably damaging Het
Vrtn C T 12: 84,696,980 (GRCm39) R577W probably benign Het
Znhit6 A G 3: 145,283,853 (GRCm39) probably benign Het
Other mutations in Ets2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ets2 APN 16 95,513,185 (GRCm39) missense probably benign 0.01
IGL00843:Ets2 APN 16 95,510,837 (GRCm39) missense probably benign 0.03
R0257:Ets2 UTSW 16 95,513,245 (GRCm39) nonsense probably null
R0317:Ets2 UTSW 16 95,513,193 (GRCm39) missense probably damaging 1.00
R0398:Ets2 UTSW 16 95,517,267 (GRCm39) missense probably damaging 1.00
R0478:Ets2 UTSW 16 95,517,306 (GRCm39) missense probably damaging 1.00
R0634:Ets2 UTSW 16 95,517,200 (GRCm39) missense possibly damaging 0.87
R1621:Ets2 UTSW 16 95,510,913 (GRCm39) missense probably damaging 1.00
R1868:Ets2 UTSW 16 95,516,118 (GRCm39) missense probably benign 0.00
R2120:Ets2 UTSW 16 95,519,977 (GRCm39) missense probably benign 0.17
R3037:Ets2 UTSW 16 95,517,109 (GRCm39) missense probably benign 0.19
R3915:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R4086:Ets2 UTSW 16 95,510,833 (GRCm39) missense probably damaging 1.00
R4609:Ets2 UTSW 16 95,512,818 (GRCm39) missense probably benign 0.03
R4760:Ets2 UTSW 16 95,520,087 (GRCm39) missense probably damaging 1.00
R5245:Ets2 UTSW 16 95,513,304 (GRCm39) nonsense probably null
R5551:Ets2 UTSW 16 95,513,165 (GRCm39) missense probably damaging 1.00
R6057:Ets2 UTSW 16 95,515,416 (GRCm39) missense probably benign 0.00
R6376:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R7545:Ets2 UTSW 16 95,516,127 (GRCm39) missense probably benign 0.45
R7905:Ets2 UTSW 16 95,507,304 (GRCm39) missense probably damaging 0.97
R8013:Ets2 UTSW 16 95,517,144 (GRCm39) missense probably damaging 1.00
R8297:Ets2 UTSW 16 95,507,321 (GRCm39) missense probably damaging 1.00
R8482:Ets2 UTSW 16 95,516,019 (GRCm39) missense probably benign 0.00
R9489:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
R9605:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
Posted On 2014-05-07