Incidental Mutation 'R0930:Hdac5'
| ID |
80792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0930 (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 T
at 102095472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 383
(P383Q)
|
| 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: P401Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: P401Q
| 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: P382Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: P382Q
| 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
AA Change: P383Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: P383Q
| 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: P383Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: P383Q
| 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: ENSMUST00000133651
|
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
G |
T |
17: 84,990,705 (GRCm39) |
V16L |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
A |
T |
17: 12,417,723 (GRCm39) |
E88V |
probably damaging |
Het |
| Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
T |
A |
19: 42,032,292 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Caprin2 |
T |
C |
6: 148,785,009 (GRCm39) |
|
probably null |
Het |
| Cars1 |
T |
A |
7: 143,124,307 (GRCm39) |
H373L |
probably damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,751,618 (GRCm39) |
G316V |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,801 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Dact1 |
A |
G |
12: 71,365,234 (GRCm39) |
R672G |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,905,262 (GRCm39) |
F991L |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Exosc4 |
A |
G |
15: 76,211,734 (GRCm39) |
I14M |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,021,398 (GRCm39) |
R180* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Fyb1 |
A |
T |
15: 6,668,309 (GRCm39) |
I501F |
probably damaging |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Krt36 |
A |
G |
11: 99,994,225 (GRCm39) |
F284S |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lsamp |
G |
A |
16: 41,709,327 (GRCm39) |
G86S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,196,824 (GRCm39) |
E1819G |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nphp4 |
T |
G |
4: 152,622,512 (GRCm39) |
L599R |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,667 (GRCm39) |
I301V |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Os9 |
C |
T |
10: 126,932,924 (GRCm39) |
R547Q |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,105 (GRCm39) |
D248G |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,271 (GRCm39) |
I1102T |
probably benign |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,367,171 (GRCm39) |
T453A |
probably benign |
Het |
| Sod1 |
A |
G |
16: 90,022,071 (GRCm39) |
D93G |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Stxbp4 |
A |
C |
11: 90,512,526 (GRCm39) |
M1R |
probably null |
Het |
| Tbc1d7 |
A |
T |
13: 43,318,812 (GRCm39) |
Y108* |
probably null |
Het |
| Ticam1 |
A |
T |
17: 56,577,226 (GRCm39) |
V623D |
unknown |
Het |
| Ticam1 |
A |
G |
17: 56,578,687 (GRCm39) |
L136P |
probably damaging |
Het |
| Tjap1 |
A |
C |
17: 46,569,455 (GRCm39) |
W512G |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Wdr45b |
A |
T |
11: 121,221,040 (GRCm39) |
F213I |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,230,077 (GRCm39) |
W285G |
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
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 |
|
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 |
|
R9595:Hdac5
|
UTSW |
11 |
102,096,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGACTGCCTGGCATACCAAAC -3'
(R):5'- ATGTTGACCTTGCCCTAAGGGAGC -3'
Sequencing Primer
(F):5'- ACTCACCTGCTATGAGCGTG -3'
(R):5'- GCCCTAAGGGAGCCAAGAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation