Incidental Mutation 'R1341:Hdac3'
| ID |
157069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac3
|
| Ensembl Gene |
ENSMUSG00000024454 |
| Gene Name |
histone deacetylase 3 |
| Synonyms |
|
| MMRRC Submission |
039406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38070024-38088073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38087766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000169360]
[ENSMUST00000169498]
[ENSMUST00000176902]
[ENSMUST00000168056]
[ENSMUST00000176104]
[ENSMUST00000177058]
|
| 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: V36A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: V36A
| 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: 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: 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 |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.8430 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.9%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0e2 |
A |
G |
6: 48,517,045 (GRCm39) |
Y75C |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,096,393 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,324,582 (GRCm39) |
L1190P |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,757,586 (GRCm39) |
D15G |
probably damaging |
Het |
| Cep126 |
G |
T |
9: 8,099,777 (GRCm39) |
P919Q |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,131 (GRCm39) |
T665S |
probably damaging |
Het |
| Chchd6 |
A |
G |
6: 89,361,623 (GRCm39) |
V260A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,196,514 (GRCm39) |
K867E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,168,602 (GRCm39) |
N440K |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17421 |
A |
T |
12: 113,333,334 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc13 |
T |
C |
13: 21,900,280 (GRCm39) |
K12E |
probably benign |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Itga10 |
G |
A |
3: 96,559,811 (GRCm39) |
E489K |
probably damaging |
Het |
| Mgat5b |
A |
C |
11: 116,869,223 (GRCm39) |
I589L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,232,601 (GRCm39) |
N348S |
probably benign |
Het |
| Mmp15 |
A |
G |
8: 96,098,931 (GRCm39) |
D586G |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,247 (GRCm39) |
D139G |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,630,216 (GRCm39) |
L471I |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,536,303 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
A |
13: 45,559,412 (GRCm39) |
S105T |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,406 (GRCm39) |
L39Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,920,198 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
C |
4: 118,639,579 (GRCm39) |
T68A |
probably benign |
Het |
| Or11m3 |
G |
A |
15: 98,396,135 (GRCm39) |
V261M |
possibly damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,589 (GRCm39) |
V272D |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,507 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or9k2 |
G |
T |
10: 129,999,185 (GRCm39) |
D3E |
probably benign |
Het |
| Pramel29 |
T |
C |
4: 143,934,129 (GRCm39) |
D326G |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,633,388 (GRCm39) |
A1106E |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,448,537 (GRCm39) |
S363P |
probably damaging |
Het |
| Skint10 |
A |
G |
4: 112,622,228 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,196,711 (GRCm39) |
N3595D |
possibly damaging |
Het |
| Swsap1 |
A |
G |
9: 21,868,450 (GRCm39) |
K241E |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,044,315 (GRCm39) |
T448A |
possibly damaging |
Het |
| Tktl1 |
G |
T |
X: 73,241,289 (GRCm39) |
G302V |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,912,331 (GRCm39) |
T1017A |
probably benign |
Het |
| Vmn2r78 |
T |
A |
7: 86,571,477 (GRCm39) |
M429K |
possibly damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,640 (GRCm39) |
F356I |
probably damaging |
Het |
| Wnt1 |
T |
C |
15: 98,689,764 (GRCm39) |
F184L |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,759,445 (GRCm39) |
I36T |
unknown |
Het |
| Zbtb39 |
A |
G |
10: 127,579,369 (GRCm39) |
I648V |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAAGGCTGATCTGTCCTCAAG -3'
(R):5'- TGGCGTATTTCTACGACCCCGATG -3'
Sequencing Primer
(F):5'- CTGTCCTCAAGTTAAAAGGGAGTC -3'
(R):5'- ATGTGGGCAACTTCCACTATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation