Incidental Mutation 'R1596:Hdac5'
| ID |
175820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
039633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 102095482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000107150]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000131254]
[ENSMUST00000156337]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000008999
|
| SMART Domains |
Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
86 |
174 |
1e-30 |
PFAM |
|
low complexity region
|
233 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
coiled coil region
|
583 |
617 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
704 |
1034 |
1.4e-81 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107150
|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
66 |
155 |
5.1e-37 |
PFAM |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
coiled coil region
|
564 |
598 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
685 |
1015 |
9.4e-91 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107150
|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
66 |
155 |
5.1e-37 |
PFAM |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
coiled coil region
|
564 |
598 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
685 |
1015 |
9.4e-91 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107151
|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
67 |
156 |
1.1e-37 |
PFAM |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
565 |
599 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
618 |
931 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107151
|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
67 |
156 |
1.1e-37 |
PFAM |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
565 |
599 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
618 |
931 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107152
|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
67 |
156 |
3.7e-37 |
PFAM |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
565 |
599 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
686 |
1016 |
6.4e-91 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107152
|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
67 |
156 |
3.7e-37 |
PFAM |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
565 |
599 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
686 |
1016 |
6.4e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124077
|
| SMART Domains |
Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131254
|
| SMART Domains |
Protein: ENSMUSP00000118108
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
57 |
146 |
1.5e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156337
|
| SMART Domains |
Protein: ENSMUSP00000116646
Gene: ENSMUSG00000008855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
Pfam:HDAC4_Gln
|
25 |
114 |
2e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.7%
|
| Validation Efficiency |
97% (70/72) |
| 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 class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and display cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,426,018 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,958,886 (GRCm39) |
Y745F |
possibly damaging |
Het |
| Abl1 |
A |
G |
2: 31,680,350 (GRCm39) |
N316S |
probably damaging |
Het |
| Ackr2 |
T |
C |
9: 121,738,278 (GRCm39) |
F218L |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,646 (GRCm39) |
Y488N |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,177,326 (GRCm39) |
I103T |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,364,678 (GRCm39) |
V2669A |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,126,594 (GRCm39) |
K1117E |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,390,520 (GRCm39) |
V22A |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,870,833 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,153,930 (GRCm39) |
K626N |
possibly damaging |
Het |
| Clcn6 |
T |
A |
4: 148,107,836 (GRCm39) |
S193C |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,946,262 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
T |
A |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
| Cst5 |
T |
C |
2: 149,247,329 (GRCm39) |
V15A |
unknown |
Het |
| Cttnbp2 |
A |
G |
6: 18,408,591 (GRCm39) |
F1010S |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,415,104 (GRCm39) |
Y667C |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,856,727 (GRCm39) |
|
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,672,982 (GRCm39) |
|
probably null |
Het |
| Fbxw20 |
C |
T |
9: 109,050,368 (GRCm39) |
C419Y |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,595,904 (GRCm39) |
V521I |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,676,848 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
C |
A |
13: 15,900,056 (GRCm39) |
Q1148K |
possibly damaging |
Het |
| Ice1 |
C |
T |
13: 70,753,014 (GRCm39) |
R1024H |
possibly damaging |
Het |
| Irak3 |
A |
T |
10: 120,018,451 (GRCm39) |
I99N |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,356 (GRCm39) |
D24G |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,257,611 (GRCm39) |
Q1292* |
probably null |
Het |
| Map1a |
C |
T |
2: 121,120,246 (GRCm39) |
A44V |
probably benign |
Het |
| Mbd2 |
T |
A |
18: 70,749,703 (GRCm39) |
M306K |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,701 (GRCm39) |
H241Y |
possibly damaging |
Het |
| Mrgprg |
A |
G |
7: 143,318,431 (GRCm39) |
F227S |
possibly damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Ncf4 |
G |
A |
15: 78,134,637 (GRCm39) |
E30K |
probably damaging |
Het |
| Nlrp4c |
C |
A |
7: 6,069,777 (GRCm39) |
D559E |
probably benign |
Het |
| Nxpe4 |
T |
A |
9: 48,307,855 (GRCm39) |
W320R |
probably damaging |
Het |
| Or10a3n |
T |
A |
7: 108,493,086 (GRCm39) |
H176L |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,144,290 (GRCm39) |
M184K |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,514 (GRCm39) |
L135P |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,127,966 (GRCm39) |
V900A |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,567,042 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,893,526 (GRCm39) |
D474E |
probably damaging |
Het |
| Prl3a1 |
A |
G |
13: 27,443,600 (GRCm39) |
|
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,386,872 (GRCm39) |
Y624N |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,151,022 (GRCm39) |
V129A |
possibly damaging |
Het |
| Reep1 |
G |
T |
6: 71,733,421 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,335,928 (GRCm39) |
|
probably null |
Het |
| Sapcd2 |
T |
A |
2: 25,266,422 (GRCm39) |
I403N |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,729,435 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
T |
C |
1: 106,974,904 (GRCm39) |
M210V |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,909,267 (GRCm39) |
I488N |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,648,867 (GRCm39) |
P1513S |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,195,358 (GRCm39) |
H1127Q |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,552,878 (GRCm39) |
V660A |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,942,793 (GRCm39) |
I233T |
probably benign |
Het |
| Unkl |
A |
G |
17: 25,424,707 (GRCm39) |
R245G |
probably null |
Het |
|
| Other mutations in Hdac5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Hdac5
|
APN |
11 |
102,088,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01614:Hdac5
|
APN |
11 |
102,090,854 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01799:Hdac5
|
APN |
11 |
102,090,911 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02839:Hdac5
|
APN |
11 |
102,095,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0354:Hdac5
|
UTSW |
11 |
102,092,972 (GRCm39) |
unclassified |
probably benign |
|
|
R0544:Hdac5
|
UTSW |
11 |
102,086,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Hdac5
|
UTSW |
11 |
102,087,078 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0632:Hdac5
|
UTSW |
11 |
102,096,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Hdac5
|
UTSW |
11 |
102,086,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Hdac5
|
UTSW |
11 |
102,095,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1475:Hdac5
|
UTSW |
11 |
102,093,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1491:Hdac5
|
UTSW |
11 |
102,092,079 (GRCm39) |
missense |
probably benign |
|
|
R1673:Hdac5
|
UTSW |
11 |
102,089,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Hdac5
|
UTSW |
11 |
102,091,342 (GRCm39) |
missense |
probably benign |
|
|
R1932:Hdac5
|
UTSW |
11 |
102,086,698 (GRCm39) |
splice site |
probably benign |
|
|
R2197:Hdac5
|
UTSW |
11 |
102,095,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2348:Hdac5
|
UTSW |
11 |
102,090,840 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2518:Hdac5
|
UTSW |
11 |
102,087,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Hdac5
|
UTSW |
11 |
102,096,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Hdac5
|
UTSW |
11 |
102,086,644 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4543:Hdac5
|
UTSW |
11 |
102,104,770 (GRCm39) |
intron |
probably benign |
|
|
R4559:Hdac5
|
UTSW |
11 |
102,089,928 (GRCm39) |
unclassified |
probably benign |
|
|
R4661:Hdac5
|
UTSW |
11 |
102,096,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Hdac5
|
UTSW |
11 |
102,097,456 (GRCm39) |
missense |
probably null |
0.99 |
|
R4708:Hdac5
|
UTSW |
11 |
102,093,019 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4933:Hdac5
|
UTSW |
11 |
102,091,389 (GRCm39) |
unclassified |
probably benign |
|
|
R4957:Hdac5
|
UTSW |
11 |
102,096,082 (GRCm39) |
unclassified |
probably benign |
|
|
R4991:Hdac5
|
UTSW |
11 |
102,096,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Hdac5
|
UTSW |
11 |
102,088,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Hdac5
|
UTSW |
11 |
102,087,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5330:Hdac5
|
UTSW |
11 |
102,088,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Hdac5
|
UTSW |
11 |
102,088,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Hdac5
|
UTSW |
11 |
102,092,967 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5449:Hdac5
|
UTSW |
11 |
102,086,923 (GRCm39) |
nonsense |
probably null |
|
|
R5682:Hdac5
|
UTSW |
11 |
102,104,749 (GRCm39) |
intron |
probably benign |
|
|
R6615:Hdac5
|
UTSW |
11 |
102,087,882 (GRCm39) |
splice site |
probably null |
|
|
R6705:Hdac5
|
UTSW |
11 |
102,092,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6875:Hdac5
|
UTSW |
11 |
102,093,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Hdac5
|
UTSW |
11 |
102,095,786 (GRCm39) |
missense |
probably benign |
|
|
R7179:Hdac5
|
UTSW |
11 |
102,095,385 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7368:Hdac5
|
UTSW |
11 |
102,088,207 (GRCm39) |
missense |
probably null |
1.00 |
|
R8140:Hdac5
|
UTSW |
11 |
102,088,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Hdac5
|
UTSW |
11 |
102,097,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8684:Hdac5
|
UTSW |
11 |
102,096,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8719:Hdac5
|
UTSW |
11 |
102,097,963 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8751:Hdac5
|
UTSW |
11 |
102,109,280 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8893:Hdac5
|
UTSW |
11 |
102,097,512 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9337:Hdac5
|
UTSW |
11 |
102,096,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Hdac5
|
UTSW |
11 |
102,093,522 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9595:Hdac5
|
UTSW |
11 |
102,096,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGACTGCCTGGCATACCAAAC -3'
(R):5'- CACCGTAAGTACAGGGCACGTATC -3'
Sequencing Primer
(F):5'- ACTCACCTGCTATGAGCGTG -3'
(R):5'- ATGTTGACCTTGCCCTAAGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation