Incidental Mutation 'IGL01984:Erg'
ID 181834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erg
Ensembl Gene ENSMUSG00000040732
Gene Name ETS transcription factor
Synonyms D030036I24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01984
Quality Score
Status
Chromosome 16
Chromosomal Location 95160028-95387452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95210786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 15 (D15A)
Ref Sequence ENSEMBL: ENSMUSP00000135568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077773] [ENSMUST00000113846] [ENSMUST00000113848] [ENSMUST00000118113] [ENSMUST00000121809] [ENSMUST00000122199] [ENSMUST00000171646] [ENSMUST00000176345] [ENSMUST00000177450]
AlphaFold P81270
Predicted Effect probably damaging
Transcript: ENSMUST00000077773
AA Change: D22A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732
AA Change: D22A

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 293 378 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113846
AA Change: D22A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732
AA Change: D22A

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 317 402 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113848
AA Change: D22A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: D22A

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 294 379 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118113
AA Change: D15A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732
AA Change: D15A

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 287 372 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121809
AA Change: D22A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732
AA Change: D22A

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 286 371 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122199
AA Change: D15A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732
AA Change: D15A

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 310 395 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171646
AA Change: D22A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732
AA Change: D22A

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 270 355 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176345
AA Change: D15A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: D15A

DomainStartEndE-ValueType
SAM_PNT 23 107 6.99e-32 SMART
ETS 218 303 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177450
SMART Domains Protein: ENSMUSP00000134930
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 23 107 6.99e-32 SMART
ETS 194 279 9.9e-58 SMART
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 member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for an ENU-induced mutation or a knock-out of isoforms 5 - 7 die during organogenesis and exhibit embryonic growth retardation. Mice homozygous for a knock-out of isoforms 1 - 4 are viable and fertile with no overt abnnormalities. Homozygous knock-out mice develop pulmonary venoocclusive disease, with pancytopenia, pulmonary hemorrhage and hypertension, and heart right ventricle hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,970,537 (GRCm39) L24F probably benign Het
Adamts16 T C 13: 70,935,266 (GRCm39) D442G probably damaging Het
Ankmy1 T C 1: 92,811,487 (GRCm39) T634A probably damaging Het
Anxa3 A T 5: 96,982,630 (GRCm39) probably benign Het
Ccnh T C 13: 85,354,270 (GRCm39) L202P probably damaging Het
Clcn3 A T 8: 61,382,614 (GRCm39) S325T probably damaging Het
Clec2d A T 6: 129,161,192 (GRCm39) E96D possibly damaging Het
Csn1s1 A T 5: 87,824,369 (GRCm39) probably benign Het
Dcun1d5 T A 9: 7,205,307 (GRCm39) Y189N possibly damaging Het
Dnah7a T C 1: 53,741,174 (GRCm39) probably null Het
Dpcd C T 19: 45,565,469 (GRCm39) H148Y probably benign Het
Efcab3 T A 11: 104,629,134 (GRCm39) D937E probably benign Het
Gm21759 T A 5: 8,230,547 (GRCm39) probably benign Het
Heatr5b C T 17: 79,103,926 (GRCm39) R1083Q possibly damaging Het
Ints3 A G 3: 90,299,533 (GRCm39) S1012P possibly damaging Het
Klhl3 C T 13: 58,159,057 (GRCm39) probably benign Het
Lama4 T A 10: 38,951,525 (GRCm39) probably null Het
Magi1 A T 6: 93,685,155 (GRCm39) V740D probably damaging Het
Nme8 C A 13: 19,873,150 (GRCm39) V165L probably damaging Het
Odf2l G T 3: 144,845,590 (GRCm39) E5* probably null Het
Or14j4 T C 17: 37,934,552 (GRCm39) probably benign Het
Or4k47 A G 2: 111,451,927 (GRCm39) L164S probably benign Het
Or56a5 A T 7: 104,792,923 (GRCm39) D192E probably benign Het
Pcnx4 T C 12: 72,621,183 (GRCm39) V1001A probably benign Het
Plaa A G 4: 94,459,922 (GRCm39) probably null Het
Prkdc G A 16: 15,526,643 (GRCm39) A1305T probably benign Het
Rnps1 T C 17: 24,643,371 (GRCm39) probably benign Het
St8sia5 T C 18: 77,336,157 (GRCm39) F197L probably benign Het
Sult3a1 G T 10: 33,755,205 (GRCm39) G257* probably null Het
Svep1 A C 4: 58,068,877 (GRCm39) Y2970D possibly damaging Het
Tns3 G T 11: 8,498,992 (GRCm39) Y30* probably null Het
Ubr1 G T 2: 120,751,867 (GRCm39) P791T probably damaging Het
Zfp592 T C 7: 80,688,392 (GRCm39) V1039A probably benign Het
Other mutations in Erg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Erg APN 16 95,170,848 (GRCm39) splice site probably benign
IGL01096:Erg APN 16 95,190,912 (GRCm39) splice site probably benign
IGL01446:Erg APN 16 95,162,141 (GRCm39) missense probably damaging 1.00
IGL01459:Erg APN 16 95,162,141 (GRCm39) missense probably damaging 1.00
IGL03164:Erg APN 16 95,210,730 (GRCm39) missense possibly damaging 0.94
PIT4515001:Erg UTSW 16 95,210,619 (GRCm39) missense probably benign 0.09
R0499:Erg UTSW 16 95,161,842 (GRCm39) nonsense probably null
R0734:Erg UTSW 16 95,170,884 (GRCm39) missense possibly damaging 0.61
R1880:Erg UTSW 16 95,178,168 (GRCm39) missense probably benign 0.07
R2069:Erg UTSW 16 95,161,937 (GRCm39) missense probably damaging 1.00
R4710:Erg UTSW 16 95,190,893 (GRCm39) missense possibly damaging 0.92
R4749:Erg UTSW 16 95,162,029 (GRCm39) missense probably damaging 1.00
R5053:Erg UTSW 16 95,325,393 (GRCm39) missense probably benign 0.00
R5284:Erg UTSW 16 95,260,102 (GRCm39) start codon destroyed probably null 0.01
R5694:Erg UTSW 16 95,161,890 (GRCm39) missense probably benign 0.00
R6212:Erg UTSW 16 95,180,022 (GRCm39) missense probably damaging 0.98
R6258:Erg UTSW 16 95,181,100 (GRCm39) missense probably damaging 0.99
R6260:Erg UTSW 16 95,181,100 (GRCm39) missense probably damaging 0.99
R6856:Erg UTSW 16 95,169,510 (GRCm39) critical splice donor site probably null
R7426:Erg UTSW 16 95,260,015 (GRCm39) splice site probably null
R7549:Erg UTSW 16 95,170,179 (GRCm39) critical splice donor site probably null
R7749:Erg UTSW 16 95,178,216 (GRCm39) missense probably benign 0.00
R9015:Erg UTSW 16 95,162,126 (GRCm39) missense possibly damaging 0.61
R9099:Erg UTSW 16 95,178,188 (GRCm39) missense probably benign
R9166:Erg UTSW 16 95,190,807 (GRCm39) missense probably benign
Z1176:Erg UTSW 16 95,210,609 (GRCm39) missense possibly damaging 0.52
Z1176:Erg UTSW 16 95,162,176 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07