Incidental Mutation 'R6615:Hdac5'
| ID |
526313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
044738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 102087882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000070334]
[ENSMUST00000078975]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000140962]
|
| 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 benign
Transcript: ENSMUST00000070334
|
| SMART Domains |
Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
53 |
187 |
2.53e-15 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
transmembrane domain
|
284 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078975
|
| SMART Domains |
Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
53 |
187 |
2.53e-15 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
transmembrane domain
|
284 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
336 |
N/A |
INTRINSIC |
|
| 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: 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155065
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
| Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,455,505 (GRCm39) |
T560A |
possibly damaging |
Het |
| Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
| Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
| Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
| Marchf8 |
A |
G |
6: 116,382,624 (GRCm39) |
E147G |
probably damaging |
Het |
| Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
| Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
| Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
| Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
| Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
| Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
| Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
| Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
| Slc5a6 |
C |
T |
5: 31,194,174 (GRCm39) |
V628I |
probably benign |
Het |
| Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
| Sugp2 |
A |
G |
8: 70,695,420 (GRCm39) |
Q131R |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
| Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
| Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
| Xkr5 |
T |
C |
8: 18,983,569 (GRCm39) |
I658V |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
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 |
|
|
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 |
|
|
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'- CATCTCGGGAAGATCAAGGC -3'
(R):5'- ATGGCCTCGATGGAGAACAG -3'
Sequencing Primer
(F):5'- TCAAGGCCAGAGAGCTTCAGTG -3'
(R):5'- CCTCGATGGAGAACAGAGCATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation