Incidental Mutation 'IGL02971:Hdac2'
| ID |
365806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdac2
|
| Ensembl Gene |
ENSMUSG00000019777 |
| Gene Name |
histone deacetylase 2 |
| Synonyms |
D10Wsu179e, Yy1bp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
36850540-36877885 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 36876370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 462
(K462*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019911]
[ENSMUST00000105510]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019911
AA Change: K462*
|
| SMART Domains |
Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: K462*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128031
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
C |
T |
2: 103,953,564 (GRCm39) |
T130I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,876,450 (GRCm39) |
L787P |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,909,640 (GRCm39) |
S10P |
probably benign |
Het |
| Cdr2l |
A |
G |
11: 115,281,726 (GRCm39) |
N77S |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,467,525 (GRCm39) |
D156G |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,145,894 (GRCm39) |
D982E |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,878,587 (GRCm39) |
L190S |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,777,325 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,607 (GRCm39) |
D3117G |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 67,994,558 (GRCm39) |
E1834G |
probably null |
Het |
| Eea1 |
A |
G |
10: 95,877,389 (GRCm39) |
T1368A |
probably benign |
Het |
| Fam83f |
T |
C |
15: 80,556,350 (GRCm39) |
V78A |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,800,898 (GRCm39) |
V1315I |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,198,671 (GRCm39) |
Y364* |
probably null |
Het |
| Gm21976 |
G |
A |
13: 98,439,057 (GRCm39) |
G16R |
probably null |
Het |
| Guca2b |
A |
G |
4: 119,514,885 (GRCm39) |
S59P |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Huwe1 |
T |
A |
X: 150,710,622 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,611 (GRCm39) |
N262K |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,826 (GRCm39) |
S1502G |
probably damaging |
Het |
| Mapkapk3 |
A |
T |
9: 107,134,279 (GRCm39) |
D328E |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,437 (GRCm39) |
|
probably benign |
Het |
| Npffr1 |
T |
C |
10: 61,449,918 (GRCm39) |
V64A |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,750,682 (GRCm39) |
F671S |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,393,211 (GRCm39) |
L57P |
probably damaging |
Het |
| Or8b3b |
T |
A |
9: 38,584,564 (GRCm39) |
M72L |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,126,945 (GRCm39) |
D718G |
probably damaging |
Het |
| Pde6a |
A |
C |
18: 61,397,326 (GRCm39) |
D670A |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,320,417 (GRCm39) |
E292V |
probably benign |
Het |
| Prmt9 |
A |
C |
8: 78,291,698 (GRCm39) |
M357L |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,540,963 (GRCm39) |
S182T |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,260 (GRCm39) |
M152K |
possibly damaging |
Het |
| Satb1 |
T |
C |
17: 52,049,717 (GRCm39) |
D579G |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,453 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,747,497 (GRCm39) |
I297V |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,195,223 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,616,559 (GRCm39) |
V139M |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,243 (GRCm39) |
M262V |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,428,847 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,924,933 (GRCm39) |
|
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,125,156 (GRCm39) |
N35S |
possibly damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,037,591 (GRCm39) |
I810L |
probably damaging |
Het |
| Wbp2nl |
A |
T |
15: 82,189,945 (GRCm39) |
T46S |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,519,940 (GRCm39) |
M57K |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation