Incidental Mutation 'R1297:Hdac2'
| ID |
158179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac2
|
| Ensembl Gene |
ENSMUSG00000019777 |
| Gene Name |
histone deacetylase 2 |
| Synonyms |
D10Wsu179e, Yy1bp |
| MMRRC Submission |
039363-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
36850540-36877885 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36862370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 78
(R78Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019911]
[ENSMUST00000105510]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019911
AA Change: R78Q
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: R78Q
| 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
AA Change: R78Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: R78Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
19 |
297 |
8.9e-75 |
PFAM |
|
| Meta Mutation Damage Score |
0.1434 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
| Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
| Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
| Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
| Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
| Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
| Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
| Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
| Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
| Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
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 |
|
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 |
|
R8360:Hdac2
|
UTSW |
10 |
36,874,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8974:Hdac2
|
UTSW |
10 |
36,862,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACAAACAGGAGTAGCCTCGC -3'
(R):5'- CCAATCCCAAACTTTTCATGGGTGC -3'
Sequencing Primer
(F):5'- TGCTGCCTGCCACAAATG -3'
(R):5'- CCTATTGAGGCAACTCTGATCAGAA -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation