Incidental Mutation 'R8751:Hdac5'
| ID |
663863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
068594-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8751 (G1)
|
| Quality Score |
155.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102109280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 38
(I38N)
|
| 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 benign
Transcript: ENSMUST00000008999
AA Change: I38N
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: I38N
| 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 |
possibly damaging
Transcript: ENSMUST00000107150
AA Change: I19N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: I19N
| 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: I20N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: I20N
| 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
AA Change: I20N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: I20N
| 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 |
unknown
Transcript: ENSMUST00000124077
AA Change: I19N
|
| SMART Domains |
Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855
AA Change: I19N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131254
AA Change: I10N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118108
Gene: ENSMUSG00000008855
AA Change: I10N
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.2%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
A |
15: 11,215,813 (GRCm39) |
I278N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,129,492 (GRCm39) |
W702R |
probably damaging |
Het |
| Adgrf5 |
G |
A |
17: 43,748,574 (GRCm39) |
V468I |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,987,509 (GRCm39) |
K2931T |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,955,135 (GRCm39) |
V3480I |
probably damaging |
Het |
| Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccm2l |
A |
T |
2: 152,909,695 (GRCm39) |
I16F |
probably benign |
Het |
| Cep72 |
G |
A |
13: 74,198,303 (GRCm39) |
S359F |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,838,100 (GRCm39) |
N844S |
unknown |
Het |
| Col7a1 |
C |
T |
9: 108,796,730 (GRCm39) |
P1623S |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,880,838 (GRCm39) |
K117E |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,845,402 (GRCm39) |
C54R |
|
Het |
| Dlg1 |
A |
G |
16: 31,600,648 (GRCm39) |
T211A |
probably benign |
Het |
| Emc1 |
C |
A |
4: 139,097,279 (GRCm39) |
H724N |
possibly damaging |
Het |
| Epg5 |
A |
C |
18: 78,008,223 (GRCm39) |
N784H |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,008,225 (GRCm39) |
N784K |
probably benign |
Het |
| Epg5 |
A |
T |
18: 78,008,224 (GRCm39) |
N784I |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 27,802,145 (GRCm39) |
E771G |
possibly damaging |
Het |
| Exo1 |
T |
C |
1: 175,719,678 (GRCm39) |
V241A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
| Fbxo21 |
T |
A |
5: 118,140,127 (GRCm39) |
M529K |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,646,134 (GRCm39) |
E276G |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,889,015 (GRCm39) |
T1069I |
probably damaging |
Het |
| Gapvd1 |
A |
C |
2: 34,568,078 (GRCm39) |
F1429V |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,117 (GRCm39) |
E510G |
possibly damaging |
Het |
| Gm17087 |
A |
T |
17: 8,785,510 (GRCm39) |
H64Q |
probably damaging |
Het |
| Gm19965 |
A |
T |
1: 116,749,867 (GRCm39) |
Y516F |
unknown |
Het |
| Hectd4 |
T |
A |
5: 121,501,838 (GRCm39) |
C4190* |
probably null |
Het |
| Helb |
A |
T |
10: 119,925,412 (GRCm39) |
D988E |
probably benign |
Het |
| Herc6 |
C |
T |
6: 57,639,359 (GRCm39) |
S909L |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,010 (GRCm39) |
V1692E |
probably damaging |
Het |
| Ino80 |
A |
G |
2: 119,237,389 (GRCm39) |
Y1107H |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,330,724 (GRCm39) |
Y350F |
probably benign |
Het |
| Lct |
T |
A |
1: 128,221,534 (GRCm39) |
T1570S |
probably benign |
Het |
| Lias |
T |
A |
5: 65,557,193 (GRCm39) |
N203K |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,092 (GRCm39) |
N168S |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,860,192 (GRCm39) |
K538* |
probably null |
Het |
| Lysmd4 |
A |
G |
7: 66,875,787 (GRCm39) |
D150G |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,739,462 (GRCm39) |
D572G |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,047,008 (GRCm39) |
|
probably null |
Het |
| Ncor2 |
T |
C |
5: 125,115,964 (GRCm39) |
Y130C |
|
Het |
| Ntmt2 |
T |
A |
1: 163,544,738 (GRCm39) |
T82S |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,409,072 (GRCm39) |
S118P |
probably benign |
Het |
| Or10g3 |
A |
G |
14: 52,610,420 (GRCm39) |
F30S |
probably benign |
Het |
| Or2t45 |
A |
G |
11: 58,669,213 (GRCm39) |
T87A |
probably benign |
Het |
| Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
| Parp14 |
A |
T |
16: 35,677,181 (GRCm39) |
M929K |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,006,229 (GRCm39) |
E778G |
probably benign |
Het |
| Pgls |
T |
C |
8: 72,047,838 (GRCm39) |
V211A |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,637,151 (GRCm39) |
M588K |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,231,269 (GRCm39) |
N860S |
probably benign |
Het |
| Psg19 |
C |
T |
7: 18,530,888 (GRCm39) |
V89M |
probably benign |
Het |
| Reln |
T |
C |
5: 22,147,672 (GRCm39) |
H2426R |
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,885,050 (GRCm39) |
N428K |
possibly damaging |
Het |
| Slc12a4 |
C |
T |
8: 106,676,285 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
T |
C |
10: 90,952,960 (GRCm39) |
I314V |
probably benign |
Het |
| Slc29a1 |
C |
A |
17: 45,900,688 (GRCm39) |
V125F |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,085,981 (GRCm39) |
C583S |
probably damaging |
Het |
| Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
| Smg7 |
T |
C |
1: 152,719,129 (GRCm39) |
D874G |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,729,723 (GRCm39) |
K132* |
probably null |
Het |
| Tap1 |
A |
G |
17: 34,412,133 (GRCm39) |
K446R |
probably benign |
Het |
| Tcam1 |
A |
T |
11: 106,176,443 (GRCm39) |
T390S |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,666,057 (GRCm39) |
N687D |
probably damaging |
Het |
| Trim42 |
T |
C |
9: 97,251,852 (GRCm39) |
R16G |
possibly damaging |
Het |
| Vcp |
A |
C |
4: 42,984,658 (GRCm39) |
L411W |
probably damaging |
Het |
| Vma21-ps |
C |
A |
4: 52,496,973 (GRCm39) |
G91V |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn2r67 |
C |
T |
7: 84,801,450 (GRCm39) |
C162Y |
probably benign |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,044,021 (GRCm39) |
T366A |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,066,190 (GRCm39) |
K54E |
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 |
|
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 |
|
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'- GTCCACGGATGTTCAACAAAAC -3'
(R):5'- TGGACAGACTTTGGTCCACG -3'
Sequencing Primer
(F):5'- CCCTCAAAGGCTGAAGCAGG -3'
(R):5'- TTTGGTCCACGCTCCTGGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation