Incidental Mutation 'R4933:Hdac5'
ID |
380733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac5
|
Ensembl Gene |
ENSMUSG00000008855 |
Gene Name |
histone deacetylase 5 |
Synonyms |
mHDA1 |
MMRRC Submission |
042533-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4933 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 102091389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000140962]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000133651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155065
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136304
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150965
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140962
|
SMART Domains |
Protein: ENSMUSP00000115435 Gene: ENSMUSG00000008855
Domain | Start | End | E-Value | Type |
PDB:2VQQ|B
|
1 |
71 |
3e-21 |
PDB |
transmembrane domain
|
118 |
135 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
Validation Efficiency |
97% (73/75) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,276,226 (GRCm39) |
E643G |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,334,839 (GRCm39) |
V1937A |
probably benign |
Het |
Acot10 |
A |
T |
15: 20,666,416 (GRCm39) |
N108K |
possibly damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,648,386 (GRCm39) |
M478K |
probably benign |
Het |
Akirin1 |
G |
A |
4: 123,630,651 (GRCm39) |
S191F |
probably damaging |
Het |
Aoc1l3 |
T |
C |
6: 48,964,426 (GRCm39) |
S145P |
probably damaging |
Het |
Aurkb |
T |
C |
11: 68,938,970 (GRCm39) |
|
probably benign |
Het |
Cabyr |
T |
C |
18: 12,877,549 (GRCm39) |
|
probably benign |
Het |
Ccp110 |
A |
G |
7: 118,324,542 (GRCm39) |
E688G |
probably damaging |
Het |
Champ1 |
T |
A |
8: 13,929,137 (GRCm39) |
S432T |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,875,209 (GRCm39) |
N633I |
probably damaging |
Het |
Dagla |
A |
T |
19: 10,247,079 (GRCm39) |
|
probably null |
Het |
Dkkl1 |
A |
T |
7: 44,860,949 (GRCm39) |
L10Q |
probably null |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fndc7 |
G |
T |
3: 108,783,986 (GRCm39) |
Q208K |
probably benign |
Het |
Gins4 |
A |
T |
8: 23,724,796 (GRCm39) |
C53S |
probably damaging |
Het |
Gja8 |
T |
A |
3: 96,826,351 (GRCm39) |
|
probably benign |
Het |
Golph3l |
T |
A |
3: 95,524,734 (GRCm39) |
N328K |
probably benign |
Het |
Haus6 |
A |
C |
4: 86,503,524 (GRCm39) |
|
probably benign |
Het |
Ide |
A |
G |
19: 37,255,155 (GRCm39) |
Y883H |
unknown |
Het |
Igf2r |
A |
G |
17: 12,910,764 (GRCm39) |
|
probably null |
Het |
Kdm3b |
T |
C |
18: 34,943,446 (GRCm39) |
Y723H |
probably damaging |
Het |
Kif21b |
G |
A |
1: 136,079,063 (GRCm39) |
|
probably null |
Het |
Lancl1 |
A |
T |
1: 67,060,193 (GRCm39) |
N77K |
probably benign |
Het |
Lyst |
T |
A |
13: 13,812,349 (GRCm39) |
N920K |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,933,963 (GRCm39) |
V3554I |
probably benign |
Het |
Map1a |
G |
A |
2: 121,136,386 (GRCm39) |
A2163T |
probably damaging |
Het |
Mapk7 |
G |
T |
11: 61,384,734 (GRCm39) |
|
probably benign |
Het |
Myo10 |
C |
A |
15: 25,781,204 (GRCm39) |
Q154K |
probably damaging |
Het |
Or2a7 |
C |
T |
6: 43,151,255 (GRCm39) |
L112F |
probably benign |
Het |
Or2h15 |
A |
G |
17: 38,441,441 (GRCm39) |
I214T |
probably damaging |
Het |
Pcdhgb2 |
G |
A |
18: 37,825,267 (GRCm39) |
V753M |
probably benign |
Het |
Pnn |
T |
A |
12: 59,117,013 (GRCm39) |
L195Q |
probably damaging |
Het |
Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
Ppp1r21 |
T |
A |
17: 88,855,049 (GRCm39) |
D109E |
probably benign |
Het |
Prr15l |
G |
A |
11: 96,825,588 (GRCm39) |
G73S |
probably damaging |
Het |
Rnf148 |
A |
G |
6: 23,654,339 (GRCm39) |
F219S |
probably benign |
Het |
Rnpep |
C |
A |
1: 135,194,764 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,803,723 (GRCm39) |
T643A |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,960,831 (GRCm39) |
C36S |
probably damaging |
Het |
Shc3 |
G |
T |
13: 51,596,805 (GRCm39) |
T406N |
probably benign |
Het |
Slit3 |
G |
T |
11: 35,579,420 (GRCm39) |
G1199V |
probably damaging |
Het |
Spata6l |
G |
T |
19: 28,919,175 (GRCm39) |
H195N |
possibly damaging |
Het |
Sptbn5 |
G |
A |
2: 119,880,601 (GRCm39) |
|
noncoding transcript |
Het |
St8sia6 |
T |
C |
2: 13,670,253 (GRCm39) |
N236D |
probably damaging |
Het |
Stpg1 |
A |
T |
4: 135,233,727 (GRCm39) |
Q3L |
probably benign |
Het |
Sult3a1 |
T |
A |
10: 33,742,550 (GRCm39) |
I59N |
probably damaging |
Het |
Vmn1r208 |
T |
G |
13: 22,956,958 (GRCm39) |
I180L |
probably benign |
Het |
Vmn2r51 |
A |
T |
7: 9,832,247 (GRCm39) |
N446K |
probably damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,553,402 (GRCm39) |
I618N |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,812,371 (GRCm39) |
N182S |
probably benign |
Het |
Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,992,521 (GRCm39) |
Y30H |
probably damaging |
Het |
Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
Zswim2 |
A |
G |
2: 83,755,571 (GRCm39) |
L110P |
probably damaging |
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 |
|
R1596:Hdac5
|
UTSW |
11 |
102,095,482 (GRCm39) |
splice site |
probably null |
|
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 |
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'- TGAGGAGGTCTCAGAACTGG -3'
(R):5'- TTATCTCGCCAGTGGGGAAC -3'
Sequencing Primer
(F):5'- TCTCAGAACTGGCTGGAGG -3'
(R):5'- CCAGTGGGGAACGGTGC -3'
|
Posted On |
2016-04-15 |