Incidental Mutation 'IGL01446:Erg'
ID 84418
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 # IGL01446
Quality Score
Status
Chromosome 16
Chromosomal Location 95160028-95387452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95162141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 322 (S322P)
Ref Sequence ENSEMBL: ENSMUSP00000135568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077773] [ENSMUST00000113846] [ENSMUST00000113848] [ENSMUST00000118113] [ENSMUST00000121809] [ENSMUST00000122199] [ENSMUST00000171646] [ENSMUST00000177450] [ENSMUST00000176345]
AlphaFold P81270
Predicted Effect probably damaging
Transcript: ENSMUST00000077773
AA Change: S305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076949
Gene: ENSMUSG00000040732
AA Change: S305P

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: S329P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732
AA Change: S329P

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: S329P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: S329P

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: S299P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732
AA Change: S299P

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: S305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113723
Gene: ENSMUSG00000040732
AA Change: S305P

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: S299P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732
AA Change: S299P

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: S282P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132766
Gene: ENSMUSG00000040732
AA Change: S282P

DomainStartEndE-ValueType
SAM_PNT 122 206 6.99e-32 SMART
ETS 270 355 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177450
AA Change: S206P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134930
Gene: ENSMUSG00000040732
AA Change: S206P

DomainStartEndE-ValueType
SAM_PNT 23 107 6.99e-32 SMART
ETS 194 279 9.9e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176345
AA Change: S322P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: S322P

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Acaca A G 11: 84,151,457 (GRCm39) K785R probably damaging Het
Acsm3 G A 7: 119,377,677 (GRCm39) V401M probably damaging Het
Aff4 G T 11: 53,306,296 (GRCm39) R1146L probably damaging Het
Alms1 C A 6: 85,673,683 (GRCm39) P3562T probably damaging Het
Arsj A G 3: 126,232,463 (GRCm39) E403G probably benign Het
Baiap2l1 C T 5: 144,212,723 (GRCm39) V431I probably benign Het
Cecr2 T A 6: 120,735,560 (GRCm39) M904K probably benign Het
Cenpe A T 3: 134,943,300 (GRCm39) T775S probably benign Het
Dennd1b G A 1: 138,950,848 (GRCm39) E30K possibly damaging Het
Dnah5 A G 15: 28,326,815 (GRCm39) D2008G probably damaging Het
Dnm2 T C 9: 21,392,672 (GRCm39) V460A probably damaging Het
Ell2 G T 13: 75,910,110 (GRCm39) L285F probably benign Het
Extl3 A G 14: 65,314,529 (GRCm39) F218L probably benign Het
Fzd9 T C 5: 135,279,420 (GRCm39) E155G probably damaging Het
Ghr A G 15: 3,362,837 (GRCm39) W212R probably damaging Het
Gulp1 A G 1: 44,783,708 (GRCm39) probably benign Het
Hdgfl2 C T 17: 56,404,281 (GRCm39) R332C possibly damaging Het
Lratd1 A T 12: 14,199,929 (GRCm39) I266N probably damaging Het
Nsd2 T C 5: 34,018,530 (GRCm39) probably benign Het
Or4c12 A G 2: 89,774,282 (GRCm39) F59S probably damaging Het
Or5a3 T C 19: 12,400,165 (GRCm39) I164T possibly damaging Het
Or5b121 C T 19: 13,507,616 (GRCm39) T237I probably benign Het
Phf11b A C 14: 59,578,740 (GRCm39) S9A probably benign Het
Psd4 T C 2: 24,295,407 (GRCm39) S854P probably damaging Het
Reln C T 5: 22,174,315 (GRCm39) D1963N probably damaging Het
Rpe65 T A 3: 159,306,042 (GRCm39) probably benign Het
Sdccag8 T C 1: 176,672,811 (GRCm39) S235P probably damaging Het
Sgip1 G T 4: 102,786,110 (GRCm39) probably null Het
Skint5 G A 4: 113,800,019 (GRCm39) P36L probably damaging Het
Slc26a3 G T 12: 31,502,490 (GRCm39) probably benign Het
Snx13 T A 12: 35,174,479 (GRCm39) C669* probably null Het
Svil A T 18: 5,062,385 (GRCm39) T902S probably damaging Het
Syne2 T C 12: 76,088,149 (GRCm39) S4989P probably damaging Het
Ttn G A 2: 76,640,283 (GRCm39) T13775M probably damaging Het
Ubr4 T C 4: 139,165,351 (GRCm39) probably benign Het
Ush1c C T 7: 45,858,380 (GRCm39) R636H possibly damaging Het
Usp17lc A T 7: 103,067,651 (GRCm39) R315S probably benign Het
Vmn1r236 T A 17: 21,506,918 (GRCm39) V12D probably benign Het
Wsb2 T G 5: 117,509,229 (GRCm39) I170S probably damaging Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging 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
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 2013-11-11