Incidental Mutation 'IGL01096:Erg'
ID 52913
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 # IGL01096
Quality Score
Status
Chromosome 16
Chromosomal Location 95160028-95387452 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 95190912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077773] [ENSMUST00000113846] [ENSMUST00000113848] [ENSMUST00000118113] [ENSMUST00000121809] [ENSMUST00000122199] [ENSMUST00000171646] [ENSMUST00000177450] [ENSMUST00000176345]
AlphaFold P81270
Predicted Effect probably benign
Transcript: ENSMUST00000077773
SMART Domains Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 293 378 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113846
SMART Domains Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 317 402 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113848
SMART Domains Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 294 379 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118113
SMART Domains Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 287 372 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121809
SMART Domains Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 286 371 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122199
SMART Domains Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 310 395 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171646
SMART Domains Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 270 355 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
Predicted Effect probably benign
Transcript: ENSMUST00000176345
SMART Domains Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732

DomainStartEndE-ValueType
SAM_PNT 23 107 6.99e-32 SMART
ETS 218 303 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Alk T C 17: 72,228,891 (GRCm39) K725E possibly damaging Het
Castor1 A C 11: 4,171,850 (GRCm39) E309A probably damaging Het
Dspp T A 5: 104,323,233 (GRCm39) H125Q possibly damaging Het
Elmo2 A T 2: 165,138,907 (GRCm39) probably benign Het
Fam20c A G 5: 138,794,910 (GRCm39) E513G possibly damaging Het
Gm9839 G T 1: 32,559,917 (GRCm39) T55N possibly damaging Het
Gpd2 A T 2: 57,228,879 (GRCm39) M228L probably damaging Het
Hp A T 8: 110,302,033 (GRCm39) M305K probably benign Het
Ifng T A 10: 118,281,174 (GRCm39) probably benign Het
Igkv9-123 T C 6: 67,931,449 (GRCm39) D39G possibly damaging Het
Melk T A 4: 44,347,262 (GRCm39) F431I probably benign Het
Or10ak12 A G 4: 118,666,653 (GRCm39) V136A probably damaging Het
Or12j5 A T 7: 140,084,097 (GRCm39) S92T probably damaging Het
Or4p19 A G 2: 88,242,135 (GRCm39) M289T probably damaging Het
Or51k1 A C 7: 103,661,321 (GRCm39) L196W probably damaging Het
Or8g27 G A 9: 39,129,412 (GRCm39) G253D probably damaging Het
Pappa T C 4: 65,107,553 (GRCm39) Y655H probably damaging Het
Prss58 A T 6: 40,872,399 (GRCm39) I208N probably damaging Het
Ryr2 T A 13: 11,718,430 (GRCm39) I2720F probably damaging Het
Slc13a1 G T 6: 24,104,076 (GRCm39) T322K probably damaging Het
Spag17 T C 3: 99,970,691 (GRCm39) F1292L probably benign Het
Tbx5 A G 5: 120,021,091 (GRCm39) T366A probably benign Het
Tmeff2 G A 1: 50,969,705 (GRCm39) probably benign Het
Tmem101 C A 11: 102,045,378 (GRCm39) probably null Het
Tpp2 C A 1: 44,000,048 (GRCm39) P389T probably damaging Het
Tyk2 A G 9: 21,020,159 (GRCm39) Y1000H probably damaging Het
Ush2a C A 1: 188,410,574 (GRCm39) N2407K probably damaging Het
Vmn1r94 C T 7: 19,901,561 (GRCm39) V248I probably damaging Het
Vmn2r12 T A 5: 109,234,125 (GRCm39) I696F probably damaging Het
Vmn2r83 A G 10: 79,313,662 (GRCm39) E90G probably damaging Het
Washc5 T C 15: 59,222,060 (GRCm39) probably benign Het
Wee2 A G 6: 40,440,187 (GRCm39) E445G probably benign Het
Zfp518b T C 5: 38,830,131 (GRCm39) T625A probably benign Het
Other mutations in Erg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Erg APN 16 95,170,848 (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
IGL01984:Erg APN 16 95,210,786 (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 2013-06-21