Incidental Mutation 'R4661:Hdac5'
ID |
352876 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac5
|
Ensembl Gene |
ENSMUSG00000008855 |
Gene Name |
histone deacetylase 5 |
Synonyms |
mHDA1 |
MMRRC Submission |
041600-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4661 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102096675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 230
(Y230C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102769
(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: Y248C
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000008999 Gene: ENSMUSG00000008855 AA Change: Y248C
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
AA Change: Y229C
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102768 Gene: ENSMUSG00000008855 AA Change: Y229C
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: Y230C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102769 Gene: ENSMUSG00000008855 AA Change: Y230C
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: Y230C
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000102770 Gene: ENSMUSG00000008855 AA Change: Y230C
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: 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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
C |
9: 44,198,627 (GRCm39) |
N42D |
probably damaging |
Het |
Adamdec1 |
G |
A |
14: 68,807,562 (GRCm39) |
T366I |
probably damaging |
Het |
Adamts7 |
C |
A |
9: 90,075,383 (GRCm39) |
H1038Q |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
Amhr2 |
A |
T |
15: 102,362,688 (GRCm39) |
D485V |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,298,663 (GRCm39) |
F134Y |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,649,534 (GRCm39) |
T508A |
probably benign |
Het |
Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Atp9a |
A |
G |
2: 168,479,592 (GRCm39) |
F928L |
possibly damaging |
Het |
BC034090 |
A |
T |
1: 155,108,221 (GRCm39) |
D13E |
probably damaging |
Het |
Bco1 |
A |
G |
8: 117,855,980 (GRCm39) |
E425G |
probably benign |
Het |
Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
C1s1 |
T |
C |
6: 124,513,449 (GRCm39) |
I193V |
probably benign |
Het |
Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
Catsperz |
T |
G |
19: 6,902,171 (GRCm39) |
T108P |
probably benign |
Het |
Cep57l1 |
T |
A |
10: 41,595,767 (GRCm39) |
D329V |
possibly damaging |
Het |
Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
Chrna2 |
G |
A |
14: 66,386,292 (GRCm39) |
G146D |
probably damaging |
Het |
Col6a1 |
A |
C |
10: 76,550,506 (GRCm39) |
F520V |
unknown |
Het |
Cyb5d2 |
C |
A |
11: 72,669,771 (GRCm39) |
V43L |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,775,290 (GRCm39) |
T321A |
probably benign |
Het |
Dnajc16 |
A |
C |
4: 141,490,859 (GRCm39) |
Y764D |
probably damaging |
Het |
Dsg1a |
G |
A |
18: 20,473,590 (GRCm39) |
V888M |
probably damaging |
Het |
F5 |
A |
C |
1: 164,012,489 (GRCm39) |
T468P |
probably damaging |
Het |
Faap24 |
A |
G |
7: 35,094,509 (GRCm39) |
M97T |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,849,230 (GRCm39) |
I334N |
probably damaging |
Het |
Frem2 |
G |
T |
3: 53,562,864 (GRCm39) |
P548T |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,340,731 (GRCm39) |
E94G |
probably damaging |
Het |
Gm17606 |
A |
T |
14: 54,885,696 (GRCm39) |
|
probably benign |
Het |
Gnb2 |
A |
T |
5: 137,528,515 (GRCm39) |
M1K |
probably null |
Het |
Gys1 |
G |
A |
7: 45,104,258 (GRCm39) |
A544T |
probably damaging |
Het |
Hunk |
A |
T |
16: 90,244,196 (GRCm39) |
|
probably null |
Het |
Ifnl2 |
A |
G |
7: 28,209,635 (GRCm39) |
F51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,387,892 (GRCm39) |
|
probably null |
Het |
Kcnj1 |
A |
G |
9: 32,307,918 (GRCm39) |
Y114C |
probably benign |
Het |
Kdm4b |
T |
A |
17: 56,706,459 (GRCm39) |
S322T |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,471,730 (GRCm39) |
E786G |
probably damaging |
Het |
Kif6 |
T |
C |
17: 50,060,909 (GRCm39) |
V414A |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,621,861 (GRCm39) |
K141R |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,490,581 (GRCm39) |
I1394V |
possibly damaging |
Het |
Lrfn5 |
A |
T |
12: 61,886,433 (GRCm39) |
M74L |
probably damaging |
Het |
Lrp6 |
C |
T |
6: 134,488,230 (GRCm39) |
D289N |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,548,710 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
C |
16: 32,589,651 (GRCm39) |
E2885A |
possibly damaging |
Het |
Myo18b |
G |
T |
5: 113,023,041 (GRCm39) |
|
probably benign |
Het |
Ncln |
G |
A |
10: 81,328,902 (GRCm39) |
A172V |
probably damaging |
Het |
Nek9 |
G |
A |
12: 85,367,666 (GRCm39) |
T335M |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,042,829 (GRCm39) |
Y1398C |
probably damaging |
Het |
Or10g6 |
A |
T |
9: 39,933,823 (GRCm39) |
I45F |
probably damaging |
Het |
Or2d4 |
T |
A |
7: 106,544,074 (GRCm39) |
I45F |
probably damaging |
Het |
Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
Pde6c |
A |
G |
19: 38,157,887 (GRCm39) |
Y637C |
probably damaging |
Het |
Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
Pold1 |
G |
T |
7: 44,182,233 (GRCm39) |
P1100T |
probably damaging |
Het |
Prune2 |
T |
C |
19: 16,977,387 (GRCm39) |
Y41H |
probably damaging |
Het |
Rgl2 |
C |
T |
17: 34,152,200 (GRCm39) |
A329V |
possibly damaging |
Het |
Rilp |
T |
A |
11: 75,402,250 (GRCm39) |
Y250N |
probably damaging |
Het |
Rilpl1 |
A |
G |
5: 124,652,751 (GRCm39) |
V19A |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,519 (GRCm39) |
|
probably null |
Het |
Rufy4 |
A |
G |
1: 74,172,266 (GRCm39) |
K246E |
probably damaging |
Het |
Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
Slc26a8 |
A |
T |
17: 28,857,658 (GRCm39) |
N828K |
probably benign |
Het |
Src |
C |
T |
2: 157,311,852 (GRCm39) |
P527S |
probably damaging |
Het |
Susd3 |
C |
T |
13: 49,384,778 (GRCm39) |
|
probably null |
Het |
Syngap1 |
T |
C |
17: 27,185,880 (GRCm39) |
L1270P |
probably damaging |
Het |
Taf1c |
G |
A |
8: 120,325,589 (GRCm39) |
P758S |
probably damaging |
Het |
Tenm2 |
A |
T |
11: 35,915,275 (GRCm39) |
N2087K |
probably damaging |
Het |
Tfrc |
A |
T |
16: 32,448,969 (GRCm39) |
I703F |
probably damaging |
Het |
Thap1 |
C |
G |
8: 26,650,874 (GRCm39) |
T48S |
probably benign |
Het |
Tspear |
T |
C |
10: 77,702,163 (GRCm39) |
F199L |
probably benign |
Het |
Usp17lc |
A |
T |
7: 103,067,797 (GRCm39) |
H364L |
probably benign |
Het |
Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
Vmn1r1 |
T |
C |
1: 181,984,789 (GRCm39) |
E292G |
possibly damaging |
Het |
Vmn1r125 |
T |
G |
7: 21,006,552 (GRCm39) |
V150G |
probably damaging |
Het |
Vmn1r167 |
A |
T |
7: 23,204,117 (GRCm39) |
L300I |
probably damaging |
Het |
Vmn2r106 |
A |
C |
17: 20,487,885 (GRCm39) |
I838S |
probably benign |
Het |
Wdr64 |
A |
T |
1: 175,554,060 (GRCm39) |
S197C |
probably damaging |
Het |
Zfp248 |
A |
T |
6: 118,410,268 (GRCm39) |
V47E |
possibly 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 |
|
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'- AGTTGGGTTCCGAGGCTAGA -3'
(R):5'- GCCAAACAACTAGCTATCAGGT -3'
Sequencing Primer
(F):5'- GGGCTCAGGATTTATCTACACAG -3'
(R):5'- CAACTAGCTATCAGGTGGCAGGTC -3'
|
Posted On |
2015-10-08 |