Incidental Mutation 'IGL02061:Hdac6'
| ID |
185424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdac6
|
| Ensembl Gene |
ENSMUSG00000031161 |
| Gene Name |
histone deacetylase 6 |
| Synonyms |
Sfc6, mHDA2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
7796359-7814128 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 7809878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033501]
[ENSMUST00000115642]
[ENSMUST00000133349]
[ENSMUST00000145675]
[ENSMUST00000154244]
|
| AlphaFold |
Q9Z2V5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033501
|
| SMART Domains |
Protein: ENSMUSP00000033501
Gene: ENSMUSG00000031161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
94 |
402 |
3.4e-90 |
PFAM |
|
low complexity region
|
438 |
460 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
488 |
798 |
5.7e-101 |
PFAM |
|
low complexity region
|
801 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
1007 |
1017 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
1066 |
1115 |
5.7e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115642
|
| SMART Domains |
Protein: ENSMUSP00000111306
Gene: ENSMUSG00000031161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
94 |
402 |
2.7e-87 |
PFAM |
|
low complexity region
|
438 |
460 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
487 |
798 |
9.1e-91 |
PFAM |
|
low complexity region
|
801 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
1007 |
1017 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
1066 |
1115 |
5.7e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133349
|
| SMART Domains |
Protein: ENSMUSP00000120348
Gene: ENSMUSG00000031161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
94 |
197 |
1.9e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137499
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145675
|
| SMART Domains |
Protein: ENSMUSP00000121653
Gene: ENSMUSG00000031161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
94 |
402 |
2.6e-90 |
PFAM |
|
low complexity region
|
438 |
460 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
488 |
798 |
4.3e-101 |
PFAM |
|
low complexity region
|
801 |
812 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154200
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156127
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154244
|
| Coding Region Coverage |
|
| 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 class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Although mice homozygous for a knock-out allele exhibit global tubulin hyperacetylation, they are viable and fertile and display only a moderately impaired immune response and a minor increase in cancellous bone mineral density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
| Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
probably damaging |
Het |
|
| Other mutations in Hdac6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Hdac6
|
APN |
X |
7,797,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01075:Hdac6
|
APN |
X |
7,802,691 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01102:Hdac6
|
APN |
X |
7,813,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01327:Hdac6
|
APN |
X |
7,798,013 (GRCm39) |
missense |
probably benign |
|
|
IGL01503:Hdac6
|
APN |
X |
7,798,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Hdac6
|
UTSW |
X |
7,797,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4043:Hdac6
|
UTSW |
X |
7,797,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Hdac6
|
UTSW |
X |
7,811,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Hdac6
|
UTSW |
X |
7,811,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Hdac6
|
UTSW |
X |
7,811,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hdac6
|
UTSW |
X |
7,804,224 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation