Incidental Mutation 'R3622:Hdac5'
| ID |
473094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102086644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 120
(P120S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115435
(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 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: 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 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 |
probably benign
Transcript: ENSMUST00000140962
AA Change: P120S
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855
AA Change: P120S
| 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: ENSMUST00000136304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155065
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
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 |
|
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 |
|
R9595:Hdac5
|
UTSW |
11 |
102,096,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation