Incidental Mutation 'IGL03023:Hdac7'
| ID |
408044 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdac7
|
| Ensembl Gene |
ENSMUSG00000022475 |
| Gene Name |
histone deacetylase 7 |
| Synonyms |
Hdac7a, 5830434K02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97690545-97742383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97695838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 674
(Y674N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079838]
[ENSMUST00000088402]
[ENSMUST00000116408]
[ENSMUST00000116409]
[ENSMUST00000118294]
[ENSMUST00000119670]
[ENSMUST00000120683]
[ENSMUST00000121514]
[ENSMUST00000156045]
|
| AlphaFold |
Q8C2B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079838
AA Change: Y767N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: Y767N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
498 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
523 |
853 |
2.5e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088402
AA Change: Y761N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: Y761N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
492 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
517 |
847 |
2.5e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116408
AA Change: Y739N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: Y739N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
495 |
825 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116409
AA Change: Y776N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: Y776N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
507 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
532 |
862 |
9.1e-83 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118294
AA Change: Y769N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: Y769N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
500 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
525 |
855 |
2.6e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119670
AA Change: Y715N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: Y715N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
471 |
801 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120683
AA Change: Y691N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: Y691N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
495 |
623 |
7.9e-9 |
PFAM |
|
Pfam:Hist_deacetyl
|
623 |
777 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121514
AA Change: Y674N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: Y674N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
405 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
430 |
760 |
9e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156045
|
| SMART Domains |
Protein: ENSMUSP00000120576
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
492 |
N/A |
INTRINSIC |
|
PDB:3ZNS|C
|
495 |
602 |
2e-60 |
PDB |
|
SCOP:d1c3pa_
|
507 |
587 |
6e-16 |
SMART |
|
low complexity region
|
603 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134258
|
| SMART Domains |
Protein: ENSMUSP00000118599
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
PDB:3ZNS|C
|
127 |
241 |
5e-70 |
PDB |
|
SCOP:d1c3pa_
|
139 |
219 |
2e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135651
|
| SMART Domains |
Protein: ENSMUSP00000119970
Gene: ENSMUSG00000022475
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
166 |
213 |
8.8e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228466
|
| 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 has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
G |
3: 40,859,419 (GRCm39) |
D28G |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,987,415 (GRCm39) |
R1746C |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,831,260 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,488,275 (GRCm39) |
D99G |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,719 (GRCm39) |
T313A |
probably damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,022,660 (GRCm39) |
D55E |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,169,989 (GRCm39) |
Y1790C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,786,034 (GRCm39) |
F319V |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,563,049 (GRCm39) |
V486D |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,679,794 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
G |
A |
7: 139,105,702 (GRCm39) |
|
probably null |
Het |
| Jup |
T |
C |
11: 100,271,518 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,880 (GRCm39) |
T385A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,292,572 (GRCm39) |
Y1075H |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,608,692 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
T |
4: 118,687,449 (GRCm39) |
F63I |
probably damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,885 (GRCm39) |
T263A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,687 (GRCm39) |
C32Y |
probably damaging |
Het |
| Psmc4 |
T |
A |
7: 27,742,285 (GRCm39) |
I264L |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,995,803 (GRCm39) |
V61A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,035,914 (GRCm39) |
T800A |
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,257 (GRCm39) |
C186R |
possibly damaging |
Het |
| Vsig2 |
A |
G |
9: 37,453,708 (GRCm39) |
Y136C |
probably damaging |
Het |
|
| Other mutations in Hdac7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Hdac7
|
APN |
15 |
97,707,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01011:Hdac7
|
APN |
15 |
97,691,816 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01361:Hdac7
|
APN |
15 |
97,709,323 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01474:Hdac7
|
APN |
15 |
97,695,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02314:Hdac7
|
APN |
15 |
97,706,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Hdac7
|
APN |
15 |
97,706,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02665:Hdac7
|
APN |
15 |
97,694,838 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03010:Hdac7
|
APN |
15 |
97,691,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03081:Hdac7
|
APN |
15 |
97,696,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cairn
|
UTSW |
15 |
97,706,376 (GRCm39) |
frame shift |
probably null |
|
|
Signpost
|
UTSW |
15 |
97,700,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Hdac7
|
UTSW |
15 |
97,696,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0518:Hdac7
|
UTSW |
15 |
97,704,380 (GRCm39) |
nonsense |
probably null |
|
|
R0521:Hdac7
|
UTSW |
15 |
97,704,380 (GRCm39) |
nonsense |
probably null |
|
|
R0522:Hdac7
|
UTSW |
15 |
97,704,560 (GRCm39) |
splice site |
probably null |
|
|
R1543:Hdac7
|
UTSW |
15 |
97,707,410 (GRCm39) |
splice site |
probably benign |
|
|
R1623:Hdac7
|
UTSW |
15 |
97,706,285 (GRCm39) |
nonsense |
probably null |
|
|
R1665:Hdac7
|
UTSW |
15 |
97,704,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Hdac7
|
UTSW |
15 |
97,705,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1895:Hdac7
|
UTSW |
15 |
97,694,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Hdac7
|
UTSW |
15 |
97,704,386 (GRCm39) |
nonsense |
probably null |
|
|
R1976:Hdac7
|
UTSW |
15 |
97,704,386 (GRCm39) |
nonsense |
probably null |
|
|
R2038:Hdac7
|
UTSW |
15 |
97,696,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Hdac7
|
UTSW |
15 |
97,691,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2156:Hdac7
|
UTSW |
15 |
97,691,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Hdac7
|
UTSW |
15 |
97,708,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3546:Hdac7
|
UTSW |
15 |
97,705,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Hdac7
|
UTSW |
15 |
97,705,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Hdac7
|
UTSW |
15 |
97,704,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Hdac7
|
UTSW |
15 |
97,694,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Hdac7
|
UTSW |
15 |
97,709,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5303:Hdac7
|
UTSW |
15 |
97,695,899 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5577:Hdac7
|
UTSW |
15 |
97,709,336 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5966:Hdac7
|
UTSW |
15 |
97,700,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Hdac7
|
UTSW |
15 |
97,699,953 (GRCm39) |
splice site |
probably null |
|
|
R6270:Hdac7
|
UTSW |
15 |
97,706,376 (GRCm39) |
frame shift |
probably null |
|
|
R6384:Hdac7
|
UTSW |
15 |
97,709,387 (GRCm39) |
nonsense |
probably null |
|
|
R6835:Hdac7
|
UTSW |
15 |
97,700,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Hdac7
|
UTSW |
15 |
97,694,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Hdac7
|
UTSW |
15 |
97,704,415 (GRCm39) |
missense |
probably benign |
|
|
R7338:Hdac7
|
UTSW |
15 |
97,707,903 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7414:Hdac7
|
UTSW |
15 |
97,706,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7753:Hdac7
|
UTSW |
15 |
97,704,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7753:Hdac7
|
UTSW |
15 |
97,698,642 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8523:Hdac7
|
UTSW |
15 |
97,706,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Hdac7
|
UTSW |
15 |
97,694,789 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9141:Hdac7
|
UTSW |
15 |
97,697,649 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9354:Hdac7
|
UTSW |
15 |
97,694,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9443:Hdac7
|
UTSW |
15 |
97,700,352 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9759:Hdac7
|
UTSW |
15 |
97,699,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Hdac7
|
UTSW |
15 |
97,698,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9793:Hdac7
|
UTSW |
15 |
97,698,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0028:Hdac7
|
UTSW |
15 |
97,706,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation