Incidental Mutation 'IGL01361:Hdac7'
ID |
75748 |
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 # |
IGL01361
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
97690545-97742383 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 97709323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 47
(M47R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079838]
[ENSMUST00000088402]
[ENSMUST00000116408]
[ENSMUST00000116409]
[ENSMUST00000118294]
[ENSMUST00000119670]
[ENSMUST00000120683]
[ENSMUST00000156045]
[ENSMUST00000121514]
|
AlphaFold |
Q8C2B3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079838
AA Change: M69R
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000078766 Gene: ENSMUSG00000022475 AA Change: M69R
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 benign
Transcript: ENSMUST00000088402
AA Change: M69R
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000085744 Gene: ENSMUSG00000022475 AA Change: M69R
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 benign
Transcript: ENSMUST00000116408
AA Change: M47R
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112109 Gene: ENSMUSG00000022475 AA Change: M47R
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 benign
Transcript: ENSMUST00000116409
AA Change: M47R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112110 Gene: ENSMUSG00000022475 AA Change: M47R
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 benign
Transcript: ENSMUST00000118294
AA Change: M47R
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113380 Gene: ENSMUSG00000022475 AA Change: M47R
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 benign
Transcript: ENSMUST00000119670
AA Change: M47R
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112459 Gene: ENSMUSG00000022475 AA Change: M47R
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 benign
Transcript: ENSMUST00000120683
AA Change: M47R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000112446 Gene: ENSMUSG00000022475 AA Change: M47R
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 |
possibly damaging
Transcript: ENSMUST00000156045
AA Change: M69R
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120576 Gene: ENSMUSG00000022475 AA Change: M69R
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 |
possibly damaging
Transcript: ENSMUST00000121514
AA Change: M47R
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112641 Gene: ENSMUSG00000022475 AA Change: M47R
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: ENSMUST00000228466
|
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 |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
T |
A |
11: 5,546,706 (GRCm39) |
|
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,960,768 (GRCm39) |
G157D |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,569,107 (GRCm39) |
E940G |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,229,149 (GRCm39) |
L561P |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,655,718 (GRCm39) |
Y27C |
probably damaging |
Het |
Catsper1 |
G |
T |
19: 5,389,507 (GRCm39) |
S474I |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,234,304 (GRCm39) |
D897G |
probably benign |
Het |
Crtc1 |
A |
G |
8: 70,840,253 (GRCm39) |
L540P |
probably damaging |
Het |
Fdps |
A |
G |
3: 89,001,749 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
A |
G |
10: 51,491,526 (GRCm39) |
I741T |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,996,092 (GRCm39) |
|
probably benign |
Het |
Kat14 |
C |
A |
2: 144,248,540 (GRCm39) |
|
probably null |
Het |
Kcnu1 |
T |
C |
8: 26,376,796 (GRCm39) |
V390A |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,375,977 (GRCm39) |
Y578N |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,000,763 (GRCm39) |
|
probably benign |
Het |
Mpc2 |
G |
T |
1: 165,307,092 (GRCm39) |
A98S |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,850,957 (GRCm38) |
I334T |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,583,196 (GRCm39) |
V370E |
possibly damaging |
Het |
Nup160 |
C |
A |
2: 90,514,356 (GRCm39) |
Y101* |
probably null |
Het |
Obscn |
T |
A |
11: 58,919,715 (GRCm39) |
Y6174F |
probably damaging |
Het |
Omp |
A |
T |
7: 97,794,489 (GRCm39) |
I46N |
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,340,448 (GRCm39) |
|
probably null |
Het |
Pctp |
A |
G |
11: 89,879,552 (GRCm39) |
V103A |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,309,814 (GRCm39) |
Y590H |
probably damaging |
Het |
Ppfibp2 |
T |
C |
7: 107,343,508 (GRCm39) |
|
probably null |
Het |
Reln |
G |
A |
5: 22,124,019 (GRCm39) |
T2829M |
probably benign |
Het |
Sh3yl1 |
T |
A |
12: 30,989,563 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
A |
T |
7: 29,048,112 (GRCm39) |
Y210N |
probably damaging |
Het |
Slc33a1 |
C |
A |
3: 63,850,833 (GRCm39) |
C497F |
probably damaging |
Het |
Srp9 |
G |
A |
1: 181,958,902 (GRCm39) |
C25Y |
probably damaging |
Het |
Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
Tut7 |
A |
T |
13: 59,933,614 (GRCm39) |
I894K |
probably damaging |
Het |
Usf3 |
C |
A |
16: 44,033,000 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,720,371 (GRCm39) |
A405T |
probably damaging |
Het |
Zan |
A |
T |
5: 137,412,604 (GRCm39) |
|
probably benign |
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 |
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 |
|
IGL03023:Hdac7
|
APN |
15 |
97,695,838 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |