Incidental Mutation 'IGL00815:Hdac5'
| ID | 11218 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Hdac5
|
|---|
| Ensembl Gene |
ENSMUSG00000008855 |
|---|
| Gene Name | histone deacetylase 5 |
|---|
| Synonyms | mHDA1 |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | IGL00815
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 11 |
|---|
| Chromosomal Location | 102194432-102230166 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to G
at 102197342 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Phenylalanine to Serine
at position 934
(F934S)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102770
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000070334]
[ENSMUST00000078975]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000140962]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008999
AA Change: F952S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: F952S
| 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 damaging
Transcript: ENSMUST00000107150
AA Change: F933S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: F933S
| 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: F849S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: F849S
| 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 damaging
Transcript: ENSMUST00000107152
AA Change: F934S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: F934S
| 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: ENSMUST00000124594
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126453
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133651
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136304
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137787
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139995
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140481
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000140962
|
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| 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: ENSMUST00000145490
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145540
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150965
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153178
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155065
|
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| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 121,151,218 |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,849,413 |
N819D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 135,259,351 |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 181,029,391 |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,370,091 |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,456,375 |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,450,790 |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,992,165 |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,948 |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,540,689 |
V115I |
probably benign |
Het |
| Gfap |
T |
C |
11: 102,888,690 |
D427G |
possibly damaging |
Het |
| Hyou1 |
A |
G |
9: 44,385,146 |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,980,850 |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,460,692 |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 163,039,131 |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,834,430 |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 30,081,200 |
P260T |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 176,140,019 |
D28A |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,360,869 |
Q1012* |
probably null |
Het |
| Ppp1ca |
A |
G |
19: 4,193,144 |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,667,989 |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,815,517 |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,859,153 |
I2792V |
possibly damaging |
Het |
| Sec23a |
C |
T |
12: 58,992,282 |
C248Y |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 54,996,931 |
|
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,909,079 |
N279S |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 47,989,151 |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,675,867 |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,246,795 |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,143,503 |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,902,720 |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,842,963 |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 41,099,491 |
M183K |
probably benign |
Het |
|
|---|
| Other mutations in Hdac5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Hdac5
|
APN |
11 |
102200028 |
missense |
probably benign |
0.38 |
|
IGL01799:Hdac5
|
APN |
11 |
102200085 |
missense |
possibly damaging |
0.71 |
|
IGL02839:Hdac5
|
APN |
11 |
102204908 |
missense |
probably damaging |
1.00 |
|
E0354:Hdac5
|
UTSW |
11 |
102202146 |
unclassified |
probably benign |
|
|
R0544:Hdac5
|
UTSW |
11 |
102196096 |
missense |
probably damaging |
1.00 |
|
R0612:Hdac5
|
UTSW |
11 |
102196252 |
missense |
possibly damaging |
0.92 |
|
R0632:Hdac5
|
UTSW |
11 |
102205812 |
missense |
probably damaging |
1.00 |
|
R0659:Hdac5
|
UTSW |
11 |
102196024 |
missense |
probably damaging |
1.00 |
|
R0930:Hdac5
|
UTSW |
11 |
102204646 |
missense |
probably benign |
0.02 |
|
R1195:Hdac5
|
UTSW |
11 |
102205506 |
missense |
probably damaging |
0.99 |
|
R1195:Hdac5
|
UTSW |
11 |
102205506 |
missense |
probably damaging |
0.99 |
|
R1195:Hdac5
|
UTSW |
11 |
102205506 |
missense |
probably damaging |
0.99 |
|
R1475:Hdac5
|
UTSW |
11 |
102202186 |
missense |
possibly damaging |
0.94 |
|
R1491:Hdac5
|
UTSW |
11 |
102201253 |
missense |
probably benign |
|
|
R1596:Hdac5
|
UTSW |
11 |
102204656 |
splice site |
probably null |
|
|
R1673:Hdac5
|
UTSW |
11 |
102198805 |
missense |
probably damaging |
1.00 |
|
R1783:Hdac5
|
UTSW |
11 |
102200516 |
missense |
probably benign |
|
|
R1932:Hdac5
|
UTSW |
11 |
102195872 |
splice site |
probably benign |
|
|
R2197:Hdac5
|
UTSW |
11 |
102204514 |
missense |
probably damaging |
1.00 |
|
R2348:Hdac5
|
UTSW |
11 |
102200014 |
missense |
probably benign |
0.44 |
|
R2518:Hdac5
|
UTSW |
11 |
102197136 |
missense |
probably damaging |
1.00 |
|
R3081:Hdac5
|
UTSW |
11 |
102205610 |
missense |
probably damaging |
1.00 |
|
R3622:Hdac5
|
UTSW |
11 |
102195818 |
missense |
probably benign |
0.34 |
|
R4543:Hdac5
|
UTSW |
11 |
102213944 |
intron |
probably benign |
|
|
R4559:Hdac5
|
UTSW |
11 |
102199102 |
unclassified |
probably benign |
|
|
R4661:Hdac5
|
UTSW |
11 |
102205849 |
missense |
probably damaging |
1.00 |
|
R4682:Hdac5
|
UTSW |
11 |
102206630 |
missense |
probably null |
0.99 |
|
R4708:Hdac5
|
UTSW |
11 |
102202193 |
missense |
probably damaging |
0.97 |
|
R4933:Hdac5
|
UTSW |
11 |
102200563 |
unclassified |
probably benign |
|
|
R4957:Hdac5
|
UTSW |
11 |
102205256 |
unclassified |
probably benign |
|
|
R4991:Hdac5
|
UTSW |
11 |
102205624 |
missense |
probably damaging |
1.00 |
|
R5090:Hdac5
|
UTSW |
11 |
102197713 |
missense |
probably damaging |
1.00 |
|
R5103:Hdac5
|
UTSW |
11 |
102196283 |
missense |
probably damaging |
0.98 |
|
R5330:Hdac5
|
UTSW |
11 |
102197354 |
missense |
probably damaging |
1.00 |
|
R5331:Hdac5
|
UTSW |
11 |
102197354 |
missense |
probably damaging |
1.00 |
|
R5386:Hdac5
|
UTSW |
11 |
102202141 |
missense |
possibly damaging |
0.71 |
|
R5449:Hdac5
|
UTSW |
11 |
102196097 |
nonsense |
probably null |
|
|
R5682:Hdac5
|
UTSW |
11 |
102213923 |
intron |
probably benign |
|
|
R6615:Hdac5
|
UTSW |
11 |
102197056 |
splice site |
probably null |
|
|
R6705:Hdac5
|
UTSW |
11 |
102201236 |
missense |
probably damaging |
0.99 |
|
R6875:Hdac5
|
UTSW |
11 |
102202276 |
missense |
probably damaging |
1.00 |
|
R6952:Hdac5
|
UTSW |
11 |
102204960 |
missense |
probably benign |
|
|
R7179:Hdac5
|
UTSW |
11 |
102204559 |
missense |
possibly damaging |
0.74 |
|
R7368:Hdac5
|
UTSW |
11 |
102197381 |
missense |
probably null |
1.00 |
|
|---|
| Posted On | 2012-12-06 |
|---|
