Incidental Mutation 'IGL02559:Hdac3'
| ID |
298602 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdac3
|
| Ensembl Gene |
ENSMUSG00000024454 |
| Gene Name |
histone deacetylase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38070024-38088073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38087944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 8
(F8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000169360]
[ENSMUST00000176104]
[ENSMUST00000177058]
[ENSMUST00000168056]
[ENSMUST00000169498]
[ENSMUST00000176902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043437
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
21 |
100 |
1.6e-19 |
PFAM |
|
coiled coil region
|
188 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
357 |
N/A |
INTRINSIC |
|
SH3
|
469 |
526 |
1.34e-8 |
SMART |
|
SH3
|
547 |
606 |
1.94e-14 |
SMART |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043498
AA Change: F8S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: F8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
11 |
315 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070709
|
| SMART Domains |
Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.2e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091932
|
| SMART Domains |
Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
8.3e-23 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163128
|
| SMART Domains |
Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
5.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163591
|
| SMART Domains |
Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169360
|
| SMART Domains |
Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
4.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176104
|
| SMART Domains |
Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
60 |
3.3e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177058
|
| SMART Domains |
Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.2e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168056
|
| SMART Domains |
Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.9e-23 |
PFAM |
|
low complexity region
|
104 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169498
|
| SMART Domains |
Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176902
|
| SMART Domains |
Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene results in embryonic death at or around the time of gastrulation. Structural and functional abnormalities are also reported in mitochondria. [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 |
|---|
| Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,881,653 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
| Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
| Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
| Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
| Gak |
C |
T |
5: 108,732,098 (GRCm39) |
E797K |
probably null |
Het |
| Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
| H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
| Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
A |
G |
14: 96,389,396 (GRCm39) |
V586A |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
| Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
| Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
| Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
| Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
| Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,867,514 (GRCm39) |
V473D |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
| Srgap2 |
A |
C |
1: 131,452,674 (GRCm39) |
|
probably null |
Het |
| Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
| Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
| Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
| Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
probably damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,515 (GRCm39) |
K26E |
possibly damaging |
Het |
|
| Other mutations in Hdac3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Hdac3
|
APN |
18 |
38,087,938 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00570:Hdac3
|
APN |
18 |
38,077,174 (GRCm39) |
splice site |
probably benign |
|
|
IGL01511:Hdac3
|
APN |
18 |
38,085,648 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01559:Hdac3
|
APN |
18 |
38,076,725 (GRCm39) |
splice site |
probably benign |
|
|
IGL01688:Hdac3
|
APN |
18 |
38,087,932 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02529:Hdac3
|
APN |
18 |
38,077,185 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02702:Hdac3
|
APN |
18 |
38,074,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4520001:Hdac3
|
UTSW |
18 |
38,074,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Hdac3
|
UTSW |
18 |
38,074,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0325:Hdac3
|
UTSW |
18 |
38,074,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0445:Hdac3
|
UTSW |
18 |
38,076,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1341:Hdac3
|
UTSW |
18 |
38,087,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Hdac3
|
UTSW |
18 |
38,076,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2761:Hdac3
|
UTSW |
18 |
38,078,779 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3805:Hdac3
|
UTSW |
18 |
38,078,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4467:Hdac3
|
UTSW |
18 |
38,085,566 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5928:Hdac3
|
UTSW |
18 |
38,074,394 (GRCm39) |
intron |
probably benign |
|
|
R5929:Hdac3
|
UTSW |
18 |
38,074,394 (GRCm39) |
intron |
probably benign |
|
|
R6341:Hdac3
|
UTSW |
18 |
38,077,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6679:Hdac3
|
UTSW |
18 |
38,077,986 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6843:Hdac3
|
UTSW |
18 |
38,075,007 (GRCm39) |
missense |
probably benign |
|
|
R7262:Hdac3
|
UTSW |
18 |
38,078,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Hdac3
|
UTSW |
18 |
38,078,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7585:Hdac3
|
UTSW |
18 |
38,078,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Hdac3
|
UTSW |
18 |
38,087,972 (GRCm39) |
unclassified |
probably benign |
|
|
R8434:Hdac3
|
UTSW |
18 |
38,074,475 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9400:Hdac3
|
UTSW |
18 |
38,070,677 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Hdac3
|
UTSW |
18 |
38,078,804 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation