Incidental Mutation 'R6893:Hdac2'
| ID |
538166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac2
|
| Ensembl Gene |
ENSMUSG00000019777 |
| Gene Name |
histone deacetylase 2 |
| Synonyms |
D10Wsu179e, Yy1bp |
| MMRRC Submission |
044987-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
36850540-36877885 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36873003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 287
(E287G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019911]
[ENSMUST00000105510]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019911
AA Change: E287G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: E287G
| 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: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
| 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 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,357,281 (GRCm39) |
E186G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,446 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
| Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,129 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
| Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
| Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
| Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
| Nemf |
A |
G |
12: 69,399,110 (GRCm39) |
V140A |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
| Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
| Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
| Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
| Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,598 (GRCm39) |
S684P |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
| Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
| Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
| Stim2 |
C |
T |
5: 54,210,787 (GRCm39) |
T74I |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
| Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
| Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
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 |
|
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'- ATGTGATCTCTCATGAACGTCTTC -3'
(R):5'- ACATTTCAGGGGTGTGGCAG -3'
Sequencing Primer
(F):5'- AGTCATGCTGTATAGACTGGCCTC -3'
(R):5'- TGTGGCAGTAGACTCTCCCATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation