Incidental Mutation 'R9595:Hdac5'
| ID |
723234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102096129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 348
(V348A)
|
| 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: V348A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: V348A
| 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: V329A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: V329A
| 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 |
possibly damaging
Transcript: ENSMUST00000107151
AA Change: V330A
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: V330A
| 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: V330A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: V330A
| 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 |
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: 99.7%
- 20x: 99.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,464,566 (GRCm39) |
M921T |
probably benign |
Het |
| Ankrd33 |
T |
C |
15: 101,013,785 (GRCm39) |
|
probably null |
Het |
| Azin2 |
A |
G |
4: 128,853,617 (GRCm39) |
V80A |
probably benign |
Het |
| Capza3 |
A |
T |
6: 139,987,712 (GRCm39) |
I104F |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,451,762 (GRCm39) |
L418P |
probably damaging |
Het |
| Cd86 |
A |
T |
16: 36,441,275 (GRCm39) |
V64D |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,946,537 (GRCm39) |
S1352P |
probably damaging |
Het |
| Chst10 |
C |
A |
1: 38,913,029 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
G |
T |
4: 95,933,797 (GRCm39) |
C362* |
probably null |
Het |
| Ddn |
T |
C |
15: 98,705,577 (GRCm39) |
T40A |
possibly damaging |
Het |
| Dennd2b |
C |
T |
7: 109,155,973 (GRCm39) |
R259Q |
probably damaging |
Het |
| Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
| Fermt3 |
C |
T |
19: 6,979,619 (GRCm39) |
V505M |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,433,720 (GRCm39) |
H88R |
probably benign |
Het |
| Glyat |
A |
G |
19: 12,623,728 (GRCm39) |
D48G |
probably damaging |
Het |
| Ighv2-3 |
T |
C |
12: 113,575,084 (GRCm39) |
K24E |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,903,948 (GRCm39) |
V57A |
possibly damaging |
Het |
| Il16 |
G |
T |
7: 83,322,273 (GRCm39) |
Y347* |
probably null |
Het |
| Il20rb |
G |
A |
9: 100,368,311 (GRCm39) |
T24M |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,016,182 (GRCm39) |
D797G |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,392,552 (GRCm39) |
T958S |
probably benign |
Het |
| Mall |
G |
T |
2: 127,571,751 (GRCm39) |
Y12* |
probably null |
Het |
| N4bp3 |
C |
T |
11: 51,536,932 (GRCm39) |
R47Q |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,551,790 (GRCm39) |
D467G |
probably damaging |
Het |
| Or12k8 |
C |
A |
2: 36,975,204 (GRCm39) |
K185N |
possibly damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,939 (GRCm39) |
S279P |
probably damaging |
Het |
| Or1af1 |
T |
A |
2: 37,110,281 (GRCm39) |
I260N |
probably damaging |
Het |
| Or4f61 |
T |
C |
2: 111,922,375 (GRCm39) |
T224A |
probably damaging |
Het |
| Or7a40 |
G |
A |
16: 16,491,470 (GRCm39) |
A125V |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,661 (GRCm39) |
N56S |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,909 (GRCm39) |
E397G |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,524,817 (GRCm39) |
I111K |
possibly damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,965,688 (GRCm39) |
H90Q |
|
Het |
| Pde4dip |
C |
T |
3: 97,602,207 (GRCm39) |
|
probably null |
Het |
| Peli2 |
T |
A |
14: 48,493,846 (GRCm39) |
V356D |
probably damaging |
Het |
| Phyhipl |
G |
T |
10: 70,395,512 (GRCm39) |
C231* |
probably null |
Het |
| Pirb |
A |
T |
7: 3,722,406 (GRCm39) |
S146T |
possibly damaging |
Het |
| Rac1 |
G |
A |
5: 143,513,643 (GRCm39) |
|
probably benign |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
| Slc38a8 |
C |
A |
8: 120,209,403 (GRCm39) |
C390F |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,592,688 (GRCm39) |
L454F |
possibly damaging |
Het |
| Slit1 |
A |
C |
19: 41,637,851 (GRCm39) |
I314S |
probably damaging |
Het |
| Son |
T |
G |
16: 91,454,241 (GRCm39) |
M996R |
possibly damaging |
Het |
| Sp4 |
A |
G |
12: 118,262,690 (GRCm39) |
V452A |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,135,457 (GRCm39) |
D940N |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,350 (GRCm39) |
P1013L |
probably damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,508 (GRCm39) |
S40T |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Wdr49 |
C |
T |
3: 75,265,747 (GRCm39) |
C233Y |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,758,961 (GRCm39) |
E999G |
probably benign |
Het |
| Yju2b |
C |
T |
8: 84,988,400 (GRCm39) |
V76I |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,611,462 (GRCm39) |
C778S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGAGATCAGAGCCCTTC -3'
(R):5'- AAGATCACCTCTCCTGTCCTAATG -3'
Sequencing Primer
(F):5'- AGCCTGTGGGACAAATCTC -3'
(R):5'- CTCTCCTGTCCTAATGGTGAAGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation