Incidental Mutation 'R6258:Erg'
ID 506509
Institutional Source Beutler Lab
Gene Symbol Erg
Ensembl Gene ENSMUSG00000040732
Gene Name ETS transcription factor
Synonyms D030036I24Rik
MMRRC Submission 044375-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6258 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 95160028-95387452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95181100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 147 (R147L)
Ref Sequence ENSEMBL: ENSMUSP00000113723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077773] [ENSMUST00000113846] [ENSMUST00000113848] [ENSMUST00000118113] [ENSMUST00000121809] [ENSMUST00000122199] [ENSMUST00000171646] [ENSMUST00000176345] [ENSMUST00000177450]
AlphaFold P81270
Predicted Effect possibly damaging
Transcript: ENSMUST00000077773
AA Change: R147L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732
AA Change: R147L

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 293 378 9.9e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113846
AA Change: R147L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732
AA Change: R147L

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 317 402 9.9e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113848
AA Change: R147L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: R147L

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 294 379 9.9e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118113
AA Change: R140L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732
AA Change: R140L

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 287 372 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121809
AA Change: R147L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732
AA Change: R147L

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 286 371 9.9e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122199
AA Change: R140L

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732
AA Change: R140L

DomainStartEndE-ValueType
SAM_PNT 115 199 6.99e-32 SMART
ETS 310 395 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171646
AA Change: R147L

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732
AA Change: R147L

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 270 355 9.9e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176345
AA Change: R140L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: R140L

DomainStartEndE-ValueType
SAM_PNT 23 107 6.99e-32 SMART
ETS 218 303 9.9e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177450
AA Change: R48L

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134930
Gene: ENSMUSG00000040732
AA Change: R48L

DomainStartEndE-ValueType
SAM_PNT 23 107 6.99e-32 SMART
ETS 194 279 9.9e-58 SMART
Meta Mutation Damage Score 0.1817 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 99% (74/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
AU041133 A G 10: 81,986,992 (GRCm39) E215G probably damaging Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Casr A G 16: 36,337,971 (GRCm39) C60R probably damaging Het
Cdc7 A G 5: 107,117,093 (GRCm39) K84E probably damaging Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Clcc1 G A 3: 108,580,624 (GRCm39) V313I possibly damaging Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Egflam T A 15: 7,263,773 (GRCm39) T726S probably damaging Het
Eml2 T G 7: 18,913,289 (GRCm39) probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Faiml T C 9: 99,114,513 (GRCm39) I125M possibly damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Fbxw2 A T 2: 34,702,825 (GRCm39) probably null Het
Fgd6 T A 10: 93,880,161 (GRCm39) N338K probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm32742 T A 9: 51,068,862 (GRCm39) I200F probably damaging Het
Gm4924 T G 10: 82,213,307 (GRCm39) probably benign Het
Gm8369 G A 19: 11,488,973 (GRCm39) A87T possibly damaging Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Ighv5-8 A G 12: 113,618,611 (GRCm39) T9A possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jakmip1 G T 5: 37,299,104 (GRCm39) E775* probably null Het
Klhl40 T C 9: 121,607,026 (GRCm39) F62S probably damaging Het
Krtcap3 A T 5: 31,409,572 (GRCm39) R84W probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lins1 T C 7: 66,360,496 (GRCm39) probably null Het
Magi3 A G 3: 103,996,912 (GRCm39) L211P probably damaging Het
Map2k5 T A 9: 63,124,647 (GRCm39) I359F probably benign Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mef2c T A 13: 83,801,057 (GRCm39) D252E probably damaging Het
Methig1 T C 15: 100,251,422 (GRCm39) V111A possibly damaging Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Nf1 A T 11: 79,456,581 (GRCm39) probably null Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or5p61 T C 7: 107,758,181 (GRCm39) N300D probably damaging Het
Pcdhb12 T C 18: 37,569,892 (GRCm39) V346A probably benign Het
Pde7b T C 10: 20,316,546 (GRCm39) D168G possibly damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Samm50 C G 15: 84,084,512 (GRCm39) P150A probably damaging Het
Samm50 C A 15: 84,084,513 (GRCm39) P150H probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Slc6a18 A T 13: 73,818,164 (GRCm39) C284* probably null Het
Smc3 T A 19: 53,616,162 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Sord T A 2: 122,089,613 (GRCm39) probably null Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
Sucnr1 T C 3: 59,993,778 (GRCm39) L102P probably damaging Het
Tbc1d9 T C 8: 83,937,145 (GRCm39) W76R probably damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ubr3 A G 2: 69,813,208 (GRCm39) probably null Het
Ung A T 5: 114,275,361 (GRCm39) Y250F probably benign Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Wdr97 C A 15: 76,239,895 (GRCm39) S277* probably null Het
Zfp1007 T C 5: 109,824,433 (GRCm39) H339R probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zscan4-ps1 C A 7: 10,799,829 (GRCm39) E353D 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGTCTGAACCCACTGAGGTTG -3'
(R):5'- TCTTGCTGTGACTCGCTGAG -3'

Sequencing Primer
(F):5'- AACCCACTGAGGTTGGGTCTG -3'
(R):5'- TGACTCGCTGAGCTTGGC -3'
Posted On 2018-03-15