Incidental Mutation 'IGL01688:Hdac3'
| ID |
104012 |
| 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 # |
IGL01688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38070024-38088073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38087932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 12
(D12V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000176104]
[ENSMUST00000177058]
[ENSMUST00000169360]
[ENSMUST00000176902]
[ENSMUST00000168056]
[ENSMUST00000169498]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000043498
AA Change: D12V
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: D12V
| 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: ENSMUST00000165643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166531
|
| 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: 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: ENSMUST00000176902
|
| SMART Domains |
Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
| Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
| Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
| Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
| Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
| Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
| Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
| Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
| Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
| Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
| Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
| Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
| Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
| Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
| Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
| Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
| Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
| Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
| Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
| Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
| Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
probably benign |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation