Incidental Mutation 'R0478:Ets2'
| ID |
43219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ets2
|
| Ensembl Gene |
ENSMUSG00000022895 |
| Gene Name |
E26 avian leukemia oncogene 2, 3' domain |
| Synonyms |
Ets-2 |
| MMRRC Submission |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
95503274-95522093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95517306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 346
(P346Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023612]
|
| AlphaFold |
P15037 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023612
AA Change: P346Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: P346Q
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
87 |
170 |
3.35e-43 |
SMART |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
ETS
|
361 |
446 |
8.49e-57 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143554
|
| Meta Mutation Damage Score |
0.1591 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
| Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
Het |
|
| Other mutations in Ets2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Ets2
|
APN |
16 |
95,513,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00843:Ets2
|
APN |
16 |
95,510,837 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01911:Ets2
|
APN |
16 |
95,512,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Ets2
|
UTSW |
16 |
95,513,245 (GRCm39) |
nonsense |
probably null |
|
|
R0317:Ets2
|
UTSW |
16 |
95,513,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Ets2
|
UTSW |
16 |
95,517,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Ets2
|
UTSW |
16 |
95,517,200 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1621:Ets2
|
UTSW |
16 |
95,510,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Ets2
|
UTSW |
16 |
95,516,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Ets2
|
UTSW |
16 |
95,519,977 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3037:Ets2
|
UTSW |
16 |
95,517,109 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3915:Ets2
|
UTSW |
16 |
95,520,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Ets2
|
UTSW |
16 |
95,510,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Ets2
|
UTSW |
16 |
95,512,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4760:Ets2
|
UTSW |
16 |
95,520,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Ets2
|
UTSW |
16 |
95,513,304 (GRCm39) |
nonsense |
probably null |
|
|
R5551:Ets2
|
UTSW |
16 |
95,513,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Ets2
|
UTSW |
16 |
95,515,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6376:Ets2
|
UTSW |
16 |
95,520,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7545:Ets2
|
UTSW |
16 |
95,516,127 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7905:Ets2
|
UTSW |
16 |
95,507,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8013:Ets2
|
UTSW |
16 |
95,517,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Ets2
|
UTSW |
16 |
95,507,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Ets2
|
UTSW |
16 |
95,516,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Ets2
|
UTSW |
16 |
95,516,121 (GRCm39) |
nonsense |
probably null |
|
|
R9605:Ets2
|
UTSW |
16 |
95,516,121 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCGTGTGTATAGCTGCCTTG -3'
(R):5'- ATCCAGAGTGTGAGTCAGAGCCAG -3'
Sequencing Primer
(F):5'- GATGCTCCTGAATTAATGACCCAG -3'
(R):5'- AGTCAGAGCCAGAGTCTGTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation