Incidental Mutation 'R0632:Hdac5'
ID |
59732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac5
|
Ensembl Gene |
ENSMUSG00000008855 |
Gene Name |
histone deacetylase 5 |
Synonyms |
mHDA1 |
MMRRC Submission |
038821-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0632 (G1)
|
Quality Score |
188 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102096638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 260
(D260E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000131254]
[ENSMUST00000156337]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008999
AA Change: D260E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008999 Gene: ENSMUSG00000008855 AA Change: D260E
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 damaging
Transcript: ENSMUST00000107150
AA Change: D241E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102768 Gene: ENSMUSG00000008855 AA Change: D241E
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 damaging
Transcript: ENSMUST00000107151
AA Change: D242E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102769 Gene: ENSMUSG00000008855 AA Change: D242E
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 damaging
Transcript: ENSMUST00000107152
AA Change: D242E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102770 Gene: ENSMUSG00000008855 AA Change: D242E
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 |
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: ENSMUST00000133651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150683
|
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
95% (81/85) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1a |
T |
A |
9: 119,176,884 (GRCm39) |
|
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,562,952 (GRCm39) |
T462S |
possibly damaging |
Het |
Akap6 |
A |
T |
12: 52,983,931 (GRCm39) |
N825I |
probably damaging |
Het |
Ankib1 |
T |
A |
5: 3,822,529 (GRCm39) |
N59I |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,033,167 (GRCm39) |
S633G |
possibly damaging |
Het |
Ap4e1 |
C |
A |
2: 126,891,200 (GRCm39) |
Y522* |
probably null |
Het |
Art5 |
G |
A |
7: 101,747,164 (GRCm39) |
T205I |
probably damaging |
Het |
Ascc2 |
T |
A |
11: 4,599,855 (GRCm39) |
L176H |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,117,026 (GRCm39) |
D529G |
probably benign |
Het |
C2cd4a |
T |
C |
9: 67,738,845 (GRCm39) |
E66G |
probably benign |
Het |
C8a |
T |
C |
4: 104,713,689 (GRCm39) |
D147G |
probably damaging |
Het |
Ccdc14 |
T |
C |
16: 34,542,019 (GRCm39) |
V532A |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,432,749 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
C |
T |
10: 92,720,958 (GRCm39) |
E2543K |
unknown |
Het |
Cldn13 |
C |
T |
5: 134,943,601 (GRCm39) |
E195K |
probably benign |
Het |
Cp |
A |
G |
3: 20,025,246 (GRCm39) |
S402G |
probably null |
Het |
Cpa3 |
T |
C |
3: 20,279,358 (GRCm39) |
T194A |
probably benign |
Het |
Crygf |
C |
A |
1: 65,967,156 (GRCm39) |
Y93* |
probably null |
Het |
Ctsh |
A |
G |
9: 89,943,635 (GRCm39) |
R87G |
possibly damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,857,671 (GRCm39) |
D428G |
possibly damaging |
Het |
Dnah17 |
C |
G |
11: 117,958,508 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,567,128 (GRCm39) |
V2366A |
probably benign |
Het |
Dscaml1 |
A |
T |
9: 45,643,432 (GRCm39) |
I1284F |
probably benign |
Het |
Dsg1c |
T |
C |
18: 20,405,403 (GRCm39) |
|
probably benign |
Het |
Dst |
G |
T |
1: 34,310,494 (GRCm39) |
R4098L |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,720,487 (GRCm39) |
|
probably benign |
Het |
Epha7 |
A |
T |
4: 28,821,104 (GRCm39) |
I90F |
probably damaging |
Het |
Fam171a2 |
T |
A |
11: 102,328,707 (GRCm39) |
D684V |
probably damaging |
Het |
Fan1 |
A |
G |
7: 64,012,947 (GRCm39) |
V665A |
possibly damaging |
Het |
Fbn2 |
A |
G |
18: 58,170,819 (GRCm39) |
C2191R |
probably damaging |
Het |
Fkbp3 |
G |
A |
12: 65,120,692 (GRCm39) |
A2V |
probably benign |
Het |
G6pd2 |
A |
G |
5: 61,967,514 (GRCm39) |
N430D |
probably benign |
Het |
Gm13547 |
T |
A |
2: 29,651,596 (GRCm39) |
D7E |
possibly damaging |
Het |
H4c9 |
G |
T |
13: 22,225,197 (GRCm39) |
Y99* |
probably null |
Het |
Hsf2bp |
T |
C |
17: 32,232,320 (GRCm39) |
E142G |
probably damaging |
Het |
Igf1r |
C |
T |
7: 67,814,903 (GRCm39) |
T268I |
probably damaging |
Het |
Inava |
T |
C |
1: 136,155,356 (GRCm39) |
D83G |
probably benign |
Het |
Kcne3 |
C |
T |
7: 99,833,646 (GRCm39) |
R88C |
probably damaging |
Het |
Klk1b9 |
G |
T |
7: 43,628,796 (GRCm39) |
G100V |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lama1 |
C |
T |
17: 68,059,363 (GRCm39) |
|
probably benign |
Het |
Lcp2 |
C |
T |
11: 34,032,426 (GRCm39) |
P335S |
possibly damaging |
Het |
Lrrk2 |
T |
A |
15: 91,680,231 (GRCm39) |
N2047K |
probably damaging |
Het |
Mcub |
T |
C |
3: 129,712,375 (GRCm39) |
M167V |
probably benign |
Het |
Mia2 |
T |
C |
12: 59,182,929 (GRCm39) |
L36P |
probably damaging |
Het |
Mmp13 |
G |
A |
9: 7,274,032 (GRCm39) |
G169R |
probably damaging |
Het |
Mmp13 |
A |
T |
9: 7,282,077 (GRCm39) |
I460F |
possibly damaging |
Het |
Msh4 |
A |
G |
3: 153,602,532 (GRCm39) |
I232T |
probably damaging |
Het |
Msra |
T |
A |
14: 64,447,981 (GRCm39) |
M145L |
probably benign |
Het |
Myo7a |
A |
T |
7: 97,761,357 (GRCm39) |
|
probably benign |
Het |
Nme8 |
A |
T |
13: 19,842,206 (GRCm39) |
N422K |
probably damaging |
Het |
Nol6 |
A |
T |
4: 41,121,115 (GRCm39) |
F353I |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,895,473 (GRCm39) |
K384E |
probably damaging |
Het |
Or51h5 |
C |
T |
7: 102,577,811 (GRCm39) |
|
probably null |
Het |
Or52e15 |
A |
G |
7: 104,645,910 (GRCm39) |
I67T |
probably benign |
Het |
Or52h7 |
A |
G |
7: 104,213,544 (GRCm39) |
I39V |
probably benign |
Het |
Phox2b |
T |
G |
5: 67,253,557 (GRCm39) |
|
probably benign |
Het |
Plec |
A |
T |
15: 76,057,611 (GRCm39) |
S4131T |
probably damaging |
Het |
Pptc7 |
G |
A |
5: 122,451,654 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
G |
A |
4: 144,090,352 (GRCm39) |
C464Y |
probably damaging |
Het |
Prpf40b |
A |
G |
15: 99,214,170 (GRCm39) |
E810G |
probably benign |
Het |
Ptprc |
C |
T |
1: 138,001,348 (GRCm39) |
V965I |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,455,415 (GRCm39) |
M180K |
probably benign |
Het |
Ranbp3 |
T |
C |
17: 57,009,896 (GRCm39) |
|
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,120,393 (GRCm39) |
S787P |
probably benign |
Het |
Rnf19b |
T |
A |
4: 128,967,344 (GRCm39) |
N294K |
probably damaging |
Het |
Samd3 |
A |
T |
10: 26,120,393 (GRCm39) |
H156L |
possibly damaging |
Het |
Serpinb6c |
C |
T |
13: 34,064,014 (GRCm39) |
R347Q |
possibly damaging |
Het |
Slc36a3 |
A |
G |
11: 55,015,906 (GRCm39) |
I416T |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,277,500 (GRCm39) |
F279Y |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,719,429 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tab2 |
A |
G |
10: 7,795,565 (GRCm39) |
S232P |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,227,325 (GRCm39) |
K1356* |
probably null |
Het |
Tmem87a |
A |
G |
2: 120,190,023 (GRCm39) |
S544P |
probably damaging |
Het |
Trim52 |
T |
A |
14: 106,344,401 (GRCm39) |
C20S |
probably damaging |
Het |
Usp38 |
A |
T |
8: 81,740,779 (GRCm39) |
V96E |
probably benign |
Het |
Vmn2r59 |
T |
C |
7: 41,708,308 (GRCm39) |
Y33C |
probably damaging |
Het |
Vsig10l |
T |
G |
7: 43,113,561 (GRCm39) |
V171G |
probably damaging |
Het |
Zfp957 |
T |
A |
14: 79,450,360 (GRCm39) |
I480F |
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 |
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 |
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'- GTTACACACGGACGACACTACAGG -3'
(R):5'- ACAACTAGCTATCAGGTGGCAGGTC -3'
Sequencing Primer
(F):5'- ACAGGAGAGGTGATCTTACCCC -3'
(R):5'- CGCTTCTTTGGACCAGAGTT -3'
|
Posted On |
2013-07-11 |