Incidental Mutation 'R1880:Erg'
| ID |
209075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erg
|
| Ensembl Gene |
ENSMUSG00000040732 |
| Gene Name |
ETS transcription factor |
| Synonyms |
D030036I24Rik |
| MMRRC Submission |
039901-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
95160028-95387452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95178168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 246
(T246I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113846]
[ENSMUST00000113848]
[ENSMUST00000118113]
[ENSMUST00000121809]
[ENSMUST00000122199]
[ENSMUST00000171646]
[ENSMUST00000176345]
|
| AlphaFold |
P81270 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113846
AA Change: T253I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109477
Gene: ENSMUSG00000040732
AA Change: T253I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
122 |
206 |
6.99e-32 |
SMART |
|
ETS
|
317 |
402 |
9.9e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113848
AA Change: T253I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109479
Gene: ENSMUSG00000040732
AA Change: T253I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
122 |
206 |
6.99e-32 |
SMART |
|
ETS
|
294 |
379 |
9.9e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118113
AA Change: T246I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112698
Gene: ENSMUSG00000040732
AA Change: T246I
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
115 |
199 |
6.99e-32 |
SMART |
|
ETS
|
286 |
371 |
9.9e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122199
AA Change: T246I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114072
Gene: ENSMUSG00000040732
AA Change: T246I
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
122 |
206 |
6.99e-32 |
SMART |
|
ETS
|
270 |
355 |
9.9e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176345
AA Change: T246I
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135568
Gene: ENSMUSG00000040732
AA Change: T246I
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
23 |
107 |
6.99e-32 |
SMART |
|
ETS
|
218 |
303 |
9.9e-58 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,072,615 (GRCm39) |
D846G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Atp10b |
G |
T |
11: 43,150,259 (GRCm39) |
G1319V |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,473,973 (GRCm39) |
T315A |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,695,523 (GRCm39) |
L1323F |
probably benign |
Het |
| Btnl2 |
A |
G |
17: 34,584,337 (GRCm39) |
E420G |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,316,581 (GRCm39) |
W293R |
probably damaging |
Het |
| Cd209f |
A |
G |
8: 4,155,464 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,394 (GRCm39) |
K1259R |
unknown |
Het |
| Dpysl3 |
A |
T |
18: 43,462,939 (GRCm39) |
|
probably null |
Het |
| Dus4l |
T |
C |
12: 31,690,869 (GRCm39) |
I261V |
probably benign |
Het |
| Ell3 |
T |
C |
2: 121,270,792 (GRCm39) |
D247G |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,694,303 (GRCm39) |
I196T |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,661 (GRCm39) |
D182G |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,444 (GRCm39) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gata4 |
G |
T |
14: 63,442,144 (GRCm39) |
P20Q |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,784,361 (GRCm39) |
D48G |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,306,260 (GRCm39) |
I481V |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,432,523 (GRCm39) |
V380A |
possibly damaging |
Het |
| Hspa2 |
G |
A |
12: 76,452,694 (GRCm39) |
D463N |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,585,231 (GRCm39) |
D2G |
probably benign |
Het |
| Kel |
G |
A |
6: 41,664,479 (GRCm39) |
L653F |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,184 (GRCm39) |
Y748C |
probably damaging |
Het |
| Lpxn |
A |
G |
19: 12,781,452 (GRCm39) |
K57E |
probably benign |
Het |
| Ltbp2 |
G |
T |
12: 84,876,045 (GRCm39) |
H501N |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,332,384 (GRCm39) |
A2419V |
probably damaging |
Het |
| Map3k12 |
A |
G |
15: 102,410,499 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,034,285 (GRCm39) |
V668I |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,505,575 (GRCm39) |
S280P |
probably benign |
Het |
| Neb |
C |
A |
2: 52,148,743 (GRCm39) |
M2601I |
probably damaging |
Het |
| Nsd1 |
T |
A |
13: 55,361,606 (GRCm39) |
N191K |
probably damaging |
Het |
| Or2w1 |
A |
T |
13: 21,317,802 (GRCm39) |
N286Y |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5w14 |
C |
A |
2: 87,541,639 (GRCm39) |
G204C |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,290 (GRCm39) |
F10L |
probably benign |
Het |
| Patj |
C |
T |
4: 98,385,477 (GRCm39) |
P364S |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,655,770 (GRCm39) |
V39A |
probably benign |
Het |
| Pira13 |
C |
T |
7: 3,827,950 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,388,638 (GRCm39) |
I1332F |
probably benign |
Het |
| Polq |
T |
C |
16: 36,906,954 (GRCm39) |
V2026A |
possibly damaging |
Het |
| Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,571,294 (GRCm39) |
Y678N |
possibly damaging |
Het |
| Rpf2 |
T |
C |
10: 40,109,154 (GRCm39) |
D95G |
possibly damaging |
Het |
| Sema3c |
A |
T |
5: 17,932,464 (GRCm39) |
K656* |
probably null |
Het |
| Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
| Snap25 |
G |
A |
2: 136,619,305 (GRCm39) |
V153M |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,026,786 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
T |
6: 42,193,004 (GRCm39) |
T248I |
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,727,695 (GRCm39) |
E346G |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,698 (GRCm39) |
S206C |
probably damaging |
Het |
| Vps36 |
T |
C |
8: 22,703,578 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,065,301 (GRCm39) |
N1289S |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,276 (GRCm39) |
C276R |
probably damaging |
Het |
| Zkscan17 |
G |
A |
11: 59,378,455 (GRCm39) |
Q243* |
probably null |
Het |
|
| Other mutations in Erg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGTCCACAGTAGAGGAGCC -3'
(R):5'- AGCTCCACTGAAGTTTCAAGG -3'
Sequencing Primer
(F):5'- GCTGTGGACTCTGAATACAGCATC -3'
(R):5'- TGAAGTTTCAAGGCCCCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation