Incidental Mutation 'R8360:Hdac2'
| ID |
652155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac2
|
| Ensembl Gene |
ENSMUSG00000019777 |
| Gene Name |
histone deacetylase 2 |
| Synonyms |
D10Wsu179e, Yy1bp |
| MMRRC Submission |
067734-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
36850540-36877885 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36874059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 396
(D396E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019911]
[ENSMUST00000105510]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019911
AA Change: D396E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: D396E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
19 |
321 |
2.5e-88 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105510
|
| SMART Domains |
Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
19 |
297 |
8.9e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
96% (43/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and postnatal lethality accompanied with a transient decrease in body size and increase in heart size and cardiomyocyte proliferation that is overcome by 2 months of age in surviving mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
| Acad8 |
C |
T |
9: 26,890,352 (GRCm39) |
A288T |
possibly damaging |
Het |
| Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
| Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
| Catspere2 |
G |
A |
1: 177,842,724 (GRCm39) |
V50M |
possibly damaging |
Het |
| Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
| Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hmgcs2 |
A |
T |
3: 98,204,724 (GRCm39) |
D294V |
possibly damaging |
Het |
| Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,290,909 (GRCm39) |
D37E |
probably benign |
Het |
| Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
| Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,440,229 (GRCm39) |
V602A |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
| Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
| Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
| Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
| Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
| Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
| Tecrl |
A |
G |
5: 83,448,764 (GRCm39) |
Y160H |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
probably benign |
Het |
|
| Other mutations in Hdac2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Hdac2
|
APN |
10 |
36,873,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00827:Hdac2
|
APN |
10 |
36,873,110 (GRCm39) |
missense |
probably benign |
|
|
IGL02971:Hdac2
|
APN |
10 |
36,876,370 (GRCm39) |
nonsense |
probably null |
|
|
checkmate
|
UTSW |
10 |
36,869,895 (GRCm39) |
missense |
probably benign |
|
|
failure
|
UTSW |
10 |
36,865,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
misstep
|
UTSW |
10 |
36,862,370 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0123:Hdac2
|
UTSW |
10 |
36,865,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0134:Hdac2
|
UTSW |
10 |
36,865,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0167:Hdac2
|
UTSW |
10 |
36,876,368 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0225:Hdac2
|
UTSW |
10 |
36,865,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0455:Hdac2
|
UTSW |
10 |
36,867,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Hdac2
|
UTSW |
10 |
36,850,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Hdac2
|
UTSW |
10 |
36,865,130 (GRCm39) |
intron |
probably benign |
|
|
R0535:Hdac2
|
UTSW |
10 |
36,869,895 (GRCm39) |
missense |
probably benign |
|
|
R1101:Hdac2
|
UTSW |
10 |
36,867,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1297:Hdac2
|
UTSW |
10 |
36,862,370 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4839:Hdac2
|
UTSW |
10 |
36,873,462 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6109:Hdac2
|
UTSW |
10 |
36,862,385 (GRCm39) |
missense |
probably null |
0.83 |
|
R6447:Hdac2
|
UTSW |
10 |
36,869,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6519:Hdac2
|
UTSW |
10 |
36,865,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6893:Hdac2
|
UTSW |
10 |
36,873,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Hdac2
|
UTSW |
10 |
36,865,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Hdac2
|
UTSW |
10 |
36,865,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Hdac2
|
UTSW |
10 |
36,873,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Hdac2
|
UTSW |
10 |
36,864,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Hdac2
|
UTSW |
10 |
36,862,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTAGATAGTGTCCCATTCAG -3'
(R):5'- GGCTTTGAGACATCAGGGAG -3'
Sequencing Primer
(F):5'- TCAGTGGTTAGTAAATGAAAGCTCG -3'
(R):5'- CTTTGAGACATCAGGGAGCTAAATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation