Incidental Mutation 'IGL00742:Hdac6'
| ID |
11220 |
| 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 # |
IGL00742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
7796359-7814128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7797568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1019
(D1019G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033500]
[ENSMUST00000033501]
[ENSMUST00000115642]
[ENSMUST00000145675]
|
| AlphaFold |
Q9Z2V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033500
|
| SMART Domains |
Protein: ENSMUSP00000033500
Gene: ENSMUSG00000031160
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
39 |
202 |
6.75e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033501
AA Change: D1019G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033501
Gene: ENSMUSG00000031161
AA Change: D1019G
| 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 benign
Transcript: ENSMUST00000115642
AA Change: D1019G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000111306
Gene: ENSMUSG00000031161
AA Change: D1019G
| 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 |
noncoding transcript
Transcript: ENSMUST00000137499
|
| Predicted Effect |
probably benign
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: ENSMUST00000153788
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
G |
T |
15: 76,473,300 (GRCm39) |
A50S |
possibly damaging |
Het |
| Adgrg2 |
C |
T |
X: 159,271,715 (GRCm39) |
T778M |
probably damaging |
Het |
| Aimp1 |
G |
A |
3: 132,377,742 (GRCm39) |
Q208* |
probably null |
Het |
| Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
| Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,128,458 (GRCm39) |
E218G |
probably benign |
Het |
| Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
| Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,353,261 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
| Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
| Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
| Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly damaging |
Het |
|
| Other mutations in Hdac6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02061:Hdac6
|
APN |
X |
7,809,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation