Incidental Mutation 'IGL00843:Ets2'
ID10559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ets2
Ensembl Gene ENSMUSG00000022895
Gene NameE26 avian leukemia oncogene 2, 3' domain
SynonymsEts-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00843
Quality Score
Status
Chromosome16
Chromosomal Location95702407-95721045 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 95709793 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 32 (F32V)
Ref Sequence ENSEMBL: ENSMUSP00000023612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023612] [ENSMUST00000155226]
Predicted Effect probably benign
Transcript: ENSMUST00000023612
AA Change: F32V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: F32V

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: ENSMUST00000143554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145509
Predicted Effect probably benign
Transcript: ENSMUST00000155226
AA Change: F32V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116638
Gene: ENSMUSG00000022895
AA Change: F32V

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,384,350 probably null Het
Clcn2 T C 16: 20,703,641 T772A probably benign Het
Cldn18 A T 9: 99,698,821 F125I probably benign Het
Ehhadh A G 16: 21,762,629 S538P possibly damaging Het
F5 G A 1: 164,211,791 R1990Q probably benign Het
Fetub A G 16: 22,929,629 probably benign Het
Hecw1 C T 13: 14,247,573 E983K probably benign Het
Hemgn A G 4: 46,396,240 M332T probably benign Het
Hmcn1 A G 1: 150,610,713 I4314T possibly damaging Het
Impad1 T C 4: 4,776,308 probably benign Het
Lonrf2 C A 1: 38,812,535 probably benign Het
Lrrc9 T C 12: 72,463,417 I430T possibly damaging Het
Lrrk2 T C 15: 91,757,058 V1606A possibly damaging Het
Oog2 G T 4: 144,195,172 L217F probably damaging Het
Plxnc1 T C 10: 94,847,549 H791R probably benign Het
Prdm2 G A 4: 143,134,314 S802L probably damaging Het
Prss32 T A 17: 23,857,362 L233Q probably damaging Het
Rapgef6 T A 11: 54,691,273 V1337E probably benign Het
Slc15a3 T A 19: 10,853,263 M326K probably null Het
Slc25a54 A T 3: 109,112,860 T397S possibly damaging Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Stradb T A 1: 58,994,409 D410E probably benign Het
Tdh T C 14: 63,495,764 T178A probably damaging Het
Tspan12 T A 6: 21,851,082 probably benign Het
Ube2b A T 11: 51,995,375 D50E probably benign Het
Zranb1 A C 7: 132,949,893 H117P probably benign Het
Other mutations in Ets2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ets2 APN 16 95712141 missense probably benign 0.01
IGL01911:Ets2 APN 16 95711758 missense probably damaging 1.00
R0257:Ets2 UTSW 16 95712201 nonsense probably null
R0317:Ets2 UTSW 16 95712149 missense probably damaging 1.00
R0398:Ets2 UTSW 16 95716223 missense probably damaging 1.00
R0478:Ets2 UTSW 16 95716262 missense probably damaging 1.00
R0634:Ets2 UTSW 16 95716156 missense possibly damaging 0.87
R1621:Ets2 UTSW 16 95709869 missense probably damaging 1.00
R1868:Ets2 UTSW 16 95715074 missense probably benign 0.00
R2120:Ets2 UTSW 16 95718933 missense probably benign 0.17
R3037:Ets2 UTSW 16 95716065 missense probably benign 0.19
R3915:Ets2 UTSW 16 95718993 missense probably damaging 1.00
R4086:Ets2 UTSW 16 95709789 missense probably damaging 1.00
R4609:Ets2 UTSW 16 95711774 missense probably benign 0.03
R4760:Ets2 UTSW 16 95719043 missense probably damaging 1.00
R5245:Ets2 UTSW 16 95712260 nonsense probably null
R5551:Ets2 UTSW 16 95712121 missense probably damaging 1.00
R6057:Ets2 UTSW 16 95714372 missense probably benign 0.00
R6376:Ets2 UTSW 16 95718993 missense probably damaging 1.00
R7545:Ets2 UTSW 16 95715083 missense probably benign 0.45
R7905:Ets2 UTSW 16 95706437 missense probably damaging 0.97
R7988:Ets2 UTSW 16 95706437 missense probably damaging 0.97
R8013:Ets2 UTSW 16 95716100 missense probably damaging 1.00
Posted On2012-12-06