Incidental Mutation 'R4467:Hdac3'
ID |
329258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac3
|
Ensembl Gene |
ENSMUSG00000024454 |
Gene Name |
histone deacetylase 3 |
Synonyms |
|
MMRRC Submission |
041724-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4467 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38070024-38088073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 38085566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 80
(G80D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037981
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000176104]
[ENSMUST00000169498]
[ENSMUST00000168056]
[ENSMUST00000169360]
[ENSMUST00000177058]
[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 benign
Transcript: ENSMUST00000043498
AA Change: G80D
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000037981 Gene: ENSMUSG00000024454 AA Change: G80D
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: ENSMUST00000164499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165643
|
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: 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: 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: 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: 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: ENSMUST00000176902
|
SMART Domains |
Protein: ENSMUSP00000135176 Gene: ENSMUSG00000044024
Domain | Start | End | E-Value | Type |
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0853 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
98% (52/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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 |
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 |
|
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'- GTATCCCTCATACTTAGCCCAG -3'
(R):5'- TTTTGGCTAGCTCACCGGAG -3'
Sequencing Primer
(F):5'- TTAGCCCAGCTAAGAGAGAGC -3'
(R):5'- TAGCTCACCGGAGTGGAACTTC -3'
|
Posted On |
2015-07-21 |