Incidental Mutation 'IGL02702:Hdac3'
ID |
304163 |
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 # |
IGL02702
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
38070024-38088073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 38074147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 359
(R359L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037981
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043498]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043498
AA Change: R359L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000037981 Gene: ENSMUSG00000024454 AA Change: R359L
Domain | Start | End | E-Value | Type |
Pfam:Hist_deacetyl
|
11 |
315 |
1.2e-82 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153945
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
C |
T |
6: 88,815,120 (GRCm39) |
V337I |
probably benign |
Het |
Adam11 |
G |
A |
11: 102,667,864 (GRCm39) |
V750I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,576,831 (GRCm39) |
V129A |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,490 (GRCm39) |
K560* |
probably null |
Het |
Cntn1 |
A |
G |
15: 92,189,482 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
T |
C |
8: 95,296,651 (GRCm39) |
V530A |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,138,575 (GRCm39) |
L507P |
probably damaging |
Het |
Fndc4 |
T |
C |
5: 31,451,079 (GRCm39) |
K204R |
probably damaging |
Het |
Gnrhr |
G |
T |
5: 86,330,128 (GRCm39) |
N297K |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,716,130 (GRCm39) |
F729S |
probably damaging |
Het |
Met |
T |
C |
6: 17,534,142 (GRCm39) |
S662P |
possibly damaging |
Het |
Mphosph9 |
T |
A |
5: 124,398,052 (GRCm39) |
E1081D |
probably damaging |
Het |
Mycbp2 |
T |
G |
14: 103,457,560 (GRCm39) |
T1546P |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,381 (GRCm39) |
M767K |
possibly damaging |
Het |
Olfm5 |
A |
G |
7: 103,803,564 (GRCm39) |
Y300H |
probably damaging |
Het |
Or8b47 |
T |
A |
9: 38,435,856 (GRCm39) |
V276D |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,310,826 (GRCm39) |
N178K |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,520,945 (GRCm39) |
I571M |
probably benign |
Het |
Ppef2 |
T |
A |
5: 92,379,678 (GRCm39) |
R557W |
probably benign |
Het |
Prelid3a |
T |
A |
18: 67,606,864 (GRCm39) |
D85E |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,310,247 (GRCm39) |
E215G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Recql4 |
C |
T |
15: 76,591,485 (GRCm39) |
G501R |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,283,740 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
A |
C |
11: 66,110,788 (GRCm39) |
L318V |
probably damaging |
Het |
Slu7 |
T |
C |
11: 43,329,719 (GRCm39) |
|
probably benign |
Het |
Spink12 |
T |
C |
18: 44,237,836 (GRCm39) |
V38A |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,144,698 (GRCm39) |
D1549G |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,531 (GRCm39) |
V88A |
possibly damaging |
Het |
Tmem200a |
C |
T |
10: 25,869,501 (GRCm39) |
G256D |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,714,835 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,040,750 (GRCm39) |
I391V |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,809,415 (GRCm39) |
L1215I |
probably benign |
Het |
Zfp410 |
C |
A |
12: 84,372,550 (GRCm39) |
N125K |
probably 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 |
IGL02559:Hdac3
|
APN |
18 |
38,087,944 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |