Incidental Mutation 'R8135:Set'
| ID |
632208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Set
|
| Ensembl Gene |
ENSMUSG00000054766 |
| Gene Name |
SET nuclear oncogene |
| Synonyms |
5730420M11Rik, 2610030F17Rik, StF-IT-1 |
| MMRRC Submission |
067563-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
R8135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29952074-29962589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29959439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 137
(D137E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067996]
[ENSMUST00000102866]
[ENSMUST00000134364]
[ENSMUST00000149578]
|
| AlphaFold |
Q9EQU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067996
AA Change: D125E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000070002
Gene: ENSMUSG00000054766
AA Change: D125E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAP
|
29 |
224 |
6.4e-62 |
PFAM |
|
low complexity region
|
226 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102866
AA Change: D137E
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099930
Gene: ENSMUSG00000054766
AA Change: D137E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Pfam:NAP
|
42 |
234 |
5.3e-39 |
PFAM |
|
low complexity region
|
238 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134364
AA Change: D137E
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114557
Gene: ENSMUSG00000054766
AA Change: D137E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Pfam:NAP
|
41 |
215 |
3e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149578
AA Change: D137E
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119824
Gene: ENSMUSG00000054766
AA Change: D137E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Pfam:NAP
|
41 |
151 |
1.8e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,674,712 (GRCm39) |
I420V |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,754,022 (GRCm39) |
M359K |
probably damaging |
Het |
| Adra1d |
C |
T |
2: 131,403,692 (GRCm39) |
A133T |
probably damaging |
Het |
| B3galnt2 |
T |
A |
13: 14,145,454 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
G |
1: 193,036,335 (GRCm39) |
V175A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,649 (GRCm39) |
N178D |
probably benign |
Het |
| Csf2rb |
T |
A |
15: 78,232,319 (GRCm39) |
I542K |
possibly damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,946 (GRCm39) |
T183A |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,629,090 (GRCm39) |
D213G |
unknown |
Het |
| Dph7 |
T |
C |
2: 24,859,556 (GRCm39) |
I271T |
probably benign |
Het |
| Edem1 |
G |
T |
6: 108,806,022 (GRCm39) |
E108* |
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,412,226 (GRCm39) |
T328A |
probably benign |
Het |
| Fasl |
A |
G |
1: 161,614,697 (GRCm39) |
V122A |
probably benign |
Het |
| Fut2 |
T |
C |
7: 45,300,566 (GRCm39) |
T69A |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,210 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,904,880 (GRCm39) |
V481D |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,542,872 (GRCm39) |
I211V |
probably benign |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,662 (GRCm39) |
T107A |
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,849,394 (GRCm39) |
K297N |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,828 (GRCm39) |
T573A |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,180 (GRCm39) |
D1438G |
probably damaging |
Het |
| Nipal2 |
A |
T |
15: 34,678,719 (GRCm39) |
Y41N |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,922,703 (GRCm39) |
S5878T |
possibly damaging |
Het |
| Pde6a |
T |
C |
18: 61,418,996 (GRCm39) |
F791L |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,812,427 (GRCm39) |
N308K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Robo2 |
T |
G |
16: 73,730,048 (GRCm39) |
I1050L |
probably benign |
Het |
| Rps2 |
A |
G |
17: 24,939,409 (GRCm39) |
K54E |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,075 (GRCm39) |
I100M |
probably benign |
Het |
| Spdye4b |
T |
C |
5: 143,180,777 (GRCm39) |
V81A |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,609,071 (GRCm39) |
D722G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,135,420 (GRCm39) |
D1011V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,548,446 (GRCm39) |
I573F |
possibly damaging |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,530 (GRCm39) |
C277S |
probably benign |
Het |
| Vwa1 |
T |
A |
4: 155,857,351 (GRCm39) |
D149V |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,089,564 (GRCm39) |
V23E |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
probably damaging |
Het |
|
| Other mutations in Set |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02169:Set
|
APN |
2 |
29,959,536 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1507:Set
|
UTSW |
2 |
29,959,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1694:Set
|
UTSW |
2 |
29,959,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2038:Set
|
UTSW |
2 |
29,960,212 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2058:Set
|
UTSW |
2 |
29,959,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4229:Set
|
UTSW |
2 |
29,959,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Set
|
UTSW |
2 |
29,959,422 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6147:Set
|
UTSW |
2 |
29,956,836 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7411:Set
|
UTSW |
2 |
29,956,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7792:Set
|
UTSW |
2 |
29,960,323 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8154:Set
|
UTSW |
2 |
29,959,100 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1177:Set
|
UTSW |
2 |
29,960,948 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAAGCTGCAGTTGGGAC -3'
(R):5'- CTTTGAAGACGGGTCACCACTC -3'
Sequencing Primer
(F):5'- GGGACAAGAATAGTCTGTTTGC -3'
(R):5'- GGGTCACCACTCTCGTTCAGATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation