Incidental Mutation 'R4957:Hdac5'
| ID |
381660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
042554-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 102096082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116646
(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
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000133651
|
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (80/81) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 6820408C15Rik |
T |
A |
2: 152,286,013 (GRCm39) |
V342D |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,231,786 (GRCm39) |
G101R |
probably damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,448,303 (GRCm39) |
H8R |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,404,027 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
G |
18: 60,942,109 (GRCm39) |
N113D |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,035,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Clptm1l |
T |
A |
13: 73,759,315 (GRCm39) |
I245N |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,760,547 (GRCm39) |
I310T |
probably damaging |
Het |
| Creb5 |
A |
T |
6: 53,670,907 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,935,231 (GRCm39) |
Q460R |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,965,124 (GRCm39) |
I2306N |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Elovl1 |
A |
T |
4: 118,289,120 (GRCm39) |
H215L |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,431,121 (GRCm39) |
I202T |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,892 (GRCm39) |
A407V |
probably damaging |
Het |
| Ercc3 |
G |
T |
18: 32,376,170 (GRCm39) |
G130W |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,827 (GRCm39) |
E113G |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,273,099 (GRCm39) |
N339K |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,897 (GRCm39) |
D240N |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,063,954 (GRCm39) |
S105G |
probably benign |
Het |
| Glra1 |
T |
A |
11: 55,418,224 (GRCm39) |
I257F |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,687,503 (GRCm39) |
P354S |
probably damaging |
Het |
| Gpr15 |
G |
T |
16: 58,538,537 (GRCm39) |
A184E |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,824 (GRCm39) |
G745E |
probably damaging |
Het |
| H2-T10 |
T |
A |
17: 36,428,308 (GRCm39) |
|
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,937,070 (GRCm39) |
|
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,324,750 (GRCm39) |
E34G |
unknown |
Het |
| Itga11 |
A |
T |
9: 62,674,930 (GRCm39) |
T821S |
probably benign |
Het |
| Lmod2 |
T |
C |
6: 24,603,871 (GRCm39) |
V282A |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,572 (GRCm39) |
K262R |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,250,910 (GRCm39) |
|
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,170,652 (GRCm39) |
Y14C |
probably damaging |
Het |
| Mtdh |
A |
T |
15: 34,083,281 (GRCm39) |
T34S |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,963,177 (GRCm39) |
D352G |
possibly damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
A |
2: 111,358,569 (GRCm39) |
N321K |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,854 (GRCm39) |
Y257N |
probably damaging |
Het |
| Or9g8 |
T |
C |
2: 85,607,459 (GRCm39) |
F177S |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,837 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Pnliprp2 |
C |
T |
19: 58,763,577 (GRCm39) |
L409F |
possibly damaging |
Het |
| Prlr |
G |
T |
15: 10,319,281 (GRCm39) |
C70F |
probably damaging |
Het |
| Ptpn14 |
C |
T |
1: 189,583,469 (GRCm39) |
T772I |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,799,966 (GRCm39) |
Q927R |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,460 (GRCm39) |
E634G |
probably benign |
Het |
| Scart1 |
T |
C |
7: 139,808,435 (GRCm39) |
V782A |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,333,232 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,553,260 (GRCm39) |
S158R |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,365,194 (GRCm39) |
T176S |
probably benign |
Het |
| Srsf10 |
T |
C |
4: 135,583,541 (GRCm39) |
S2P |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,173,705 (GRCm39) |
C50S |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,919,864 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,223 (GRCm39) |
H390Q |
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,144,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
G |
C |
4: 63,894,793 (GRCm39) |
P1531R |
probably damaging |
Het |
| Tnfrsf1b |
C |
A |
4: 144,973,327 (GRCm39) |
Q15H |
probably damaging |
Het |
| Tnfrsf1b |
T |
G |
4: 144,973,328 (GRCm39) |
Q15P |
possibly damaging |
Het |
| Tssk4 |
A |
T |
14: 55,889,266 (GRCm39) |
E264V |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,365,274 (GRCm39) |
V296I |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,947,129 (GRCm39) |
E541A |
probably benign |
Het |
| Ybx1 |
A |
T |
4: 119,136,135 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
A |
11: 58,782,057 (GRCm39) |
Y235F |
possibly damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,904 (GRCm39) |
K32* |
probably null |
Het |
| Zpbp2 |
T |
A |
11: 98,442,150 (GRCm39) |
|
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 |
|
|
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'- GACAGAGATCAGAGCCCTTCAG -3'
(R):5'- GGTAAGATCACCTCTCCTGTCC -3'
Sequencing Primer
(F):5'- TTCAGGAGCCTGTGGGACAAATC -3'
(R):5'- CTCTCCTGTCCTAATGGTGAAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation