Incidental Mutation 'R4991:Hdac5'
ID |
386207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac5
|
Ensembl Gene |
ENSMUSG00000008855 |
Gene Name |
histone deacetylase 5 |
Synonyms |
mHDA1 |
MMRRC Submission |
042585-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4991 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102096450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 252
(E252D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000131254]
[ENSMUST00000156337]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008999
AA Change: E270D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000008999 Gene: ENSMUSG00000008855 AA Change: E270D
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 damaging
Transcript: ENSMUST00000107150
AA Change: E251D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102768 Gene: ENSMUSG00000008855 AA Change: E251D
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 |
probably damaging
Transcript: ENSMUST00000107151
AA Change: E252D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102769 Gene: ENSMUSG00000008855 AA Change: E252D
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: E252D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102770 Gene: ENSMUSG00000008855 AA Change: E252D
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 |
probably benign
Transcript: ENSMUST00000131254
|
SMART Domains |
Protein: ENSMUSP00000118108 Gene: ENSMUSG00000008855
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
57 |
146 |
1.5e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150683
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156337
|
SMART Domains |
Protein: ENSMUSP00000116646 Gene: ENSMUSG00000008855
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
25 |
114 |
2e-38 |
PFAM |
|
Meta Mutation Damage Score |
0.0718 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.0%
|
Validation Efficiency |
95% (73/77) |
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]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
G |
T |
14: 56,010,922 (GRCm39) |
T665K |
probably benign |
Het |
Adgrf3 |
C |
T |
5: 30,404,146 (GRCm39) |
V369M |
probably benign |
Het |
Als2 |
T |
C |
1: 59,246,927 (GRCm39) |
K571E |
probably benign |
Het |
Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
Asb14 |
T |
C |
14: 26,637,015 (GRCm39) |
S586P |
probably damaging |
Het |
Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
Chmp4b |
A |
G |
2: 154,534,545 (GRCm39) |
E187G |
probably benign |
Het |
Cox6b2 |
T |
C |
7: 4,755,160 (GRCm39) |
D38G |
probably damaging |
Het |
Cpm |
G |
A |
10: 117,504,008 (GRCm39) |
C138Y |
probably damaging |
Het |
Csmd3 |
G |
T |
15: 47,864,874 (GRCm39) |
P785Q |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,219,720 (GRCm39) |
Y277C |
probably damaging |
Het |
Cstf2t |
T |
A |
19: 31,061,983 (GRCm39) |
N506K |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Ebf2 |
A |
T |
14: 67,627,106 (GRCm39) |
T265S |
possibly damaging |
Het |
Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
Gm19684 |
A |
G |
17: 36,438,364 (GRCm39) |
|
probably benign |
Het |
Gm29106 |
T |
C |
1: 118,106,121 (GRCm39) |
M37T |
probably benign |
Het |
Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
Ifitm3 |
A |
T |
7: 140,590,372 (GRCm39) |
F63I |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
Itgb1bp1 |
C |
T |
12: 21,324,849 (GRCm39) |
G69D |
probably damaging |
Het |
Kcnh3 |
A |
G |
15: 99,130,637 (GRCm39) |
D418G |
probably benign |
Het |
Kif1a |
T |
C |
1: 93,006,530 (GRCm39) |
T46A |
probably benign |
Het |
Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
C |
16: 95,960,932 (GRCm39) |
E510G |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
Mios |
T |
G |
6: 8,215,847 (GRCm39) |
S348A |
probably benign |
Het |
Mog |
T |
C |
17: 37,328,381 (GRCm39) |
|
probably null |
Het |
Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
Nat8f4 |
T |
C |
6: 85,878,122 (GRCm39) |
K134E |
probably benign |
Het |
Nbeal2 |
C |
T |
9: 110,467,835 (GRCm39) |
C451Y |
probably damaging |
Het |
Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
Nmnat1 |
G |
A |
4: 149,553,584 (GRCm39) |
T176M |
possibly damaging |
Het |
Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,708,544 (GRCm39) |
S237P |
probably damaging |
Het |
Or5b97 |
T |
G |
19: 12,878,815 (GRCm39) |
T110P |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,631 (GRCm39) |
M157V |
probably damaging |
Het |
Osgin1 |
A |
G |
8: 120,172,028 (GRCm39) |
E274G |
probably damaging |
Het |
Otof |
G |
A |
5: 30,551,525 (GRCm39) |
R343W |
probably damaging |
Het |
Pcdha9 |
A |
T |
18: 37,131,398 (GRCm39) |
I156F |
probably damaging |
Het |
Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
Pira12 |
T |
G |
7: 3,898,571 (GRCm39) |
Q292H |
probably benign |
Het |
Samd4 |
A |
T |
14: 47,311,467 (GRCm39) |
S262C |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,672,207 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
St3gal4 |
A |
G |
9: 34,964,432 (GRCm39) |
V190A |
possibly damaging |
Het |
Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
Tmem201 |
A |
T |
4: 149,812,612 (GRCm39) |
Y235N |
possibly damaging |
Het |
Tpx2 |
T |
C |
2: 152,711,644 (GRCm39) |
S60P |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,980,970 (GRCm39) |
Y144C |
probably benign |
Het |
U90926 |
G |
A |
5: 92,357,879 (GRCm39) |
P91S |
probably benign |
Het |
Utp20 |
G |
T |
10: 88,582,796 (GRCm39) |
H2780Q |
probably benign |
Het |
Vmn1r215 |
T |
G |
13: 23,260,697 (GRCm39) |
F246V |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,400,338 (GRCm39) |
L237S |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,929 (GRCm39) |
S817P |
probably damaging |
Het |
Zbtb24 |
A |
G |
10: 41,332,614 (GRCm39) |
|
probably null |
Het |
Zfp212 |
G |
A |
6: 47,903,796 (GRCm39) |
R127H |
probably damaging |
Het |
Zfp268 |
C |
A |
4: 145,348,904 (GRCm39) |
Q114K |
probably benign |
Het |
Zfp740 |
G |
T |
15: 102,116,714 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Hdac5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Hdac5
|
APN |
11 |
102,088,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01614:Hdac5
|
APN |
11 |
102,090,854 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01799:Hdac5
|
APN |
11 |
102,090,911 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02839:Hdac5
|
APN |
11 |
102,095,734 (GRCm39) |
missense |
probably damaging |
1.00 |
E0354:Hdac5
|
UTSW |
11 |
102,092,972 (GRCm39) |
unclassified |
probably benign |
|
R0544:Hdac5
|
UTSW |
11 |
102,086,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Hdac5
|
UTSW |
11 |
102,087,078 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0632:Hdac5
|
UTSW |
11 |
102,096,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Hdac5
|
UTSW |
11 |
102,086,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R0930:Hdac5
|
UTSW |
11 |
102,095,472 (GRCm39) |
missense |
probably benign |
0.02 |
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1475:Hdac5
|
UTSW |
11 |
102,093,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1491:Hdac5
|
UTSW |
11 |
102,092,079 (GRCm39) |
missense |
probably benign |
|
R1596:Hdac5
|
UTSW |
11 |
102,095,482 (GRCm39) |
splice site |
probably null |
|
R1673:Hdac5
|
UTSW |
11 |
102,089,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Hdac5
|
UTSW |
11 |
102,091,342 (GRCm39) |
missense |
probably benign |
|
R1932:Hdac5
|
UTSW |
11 |
102,086,698 (GRCm39) |
splice site |
probably benign |
|
R2197:Hdac5
|
UTSW |
11 |
102,095,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R2348:Hdac5
|
UTSW |
11 |
102,090,840 (GRCm39) |
missense |
probably benign |
0.44 |
R2518:Hdac5
|
UTSW |
11 |
102,087,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Hdac5
|
UTSW |
11 |
102,096,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R3622:Hdac5
|
UTSW |
11 |
102,086,644 (GRCm39) |
missense |
probably benign |
0.34 |
R4543:Hdac5
|
UTSW |
11 |
102,104,770 (GRCm39) |
intron |
probably benign |
|
R4559:Hdac5
|
UTSW |
11 |
102,089,928 (GRCm39) |
unclassified |
probably benign |
|
R4661:Hdac5
|
UTSW |
11 |
102,096,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4682:Hdac5
|
UTSW |
11 |
102,097,456 (GRCm39) |
missense |
probably null |
0.99 |
R4708:Hdac5
|
UTSW |
11 |
102,093,019 (GRCm39) |
missense |
probably damaging |
0.97 |
R4933:Hdac5
|
UTSW |
11 |
102,091,389 (GRCm39) |
unclassified |
probably benign |
|
R4957:Hdac5
|
UTSW |
11 |
102,096,082 (GRCm39) |
unclassified |
probably benign |
|
R5090:Hdac5
|
UTSW |
11 |
102,088,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Hdac5
|
UTSW |
11 |
102,087,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R5330:Hdac5
|
UTSW |
11 |
102,088,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Hdac5
|
UTSW |
11 |
102,088,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Hdac5
|
UTSW |
11 |
102,092,967 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5449:Hdac5
|
UTSW |
11 |
102,086,923 (GRCm39) |
nonsense |
probably null |
|
R5682:Hdac5
|
UTSW |
11 |
102,104,749 (GRCm39) |
intron |
probably benign |
|
R6615:Hdac5
|
UTSW |
11 |
102,087,882 (GRCm39) |
splice site |
probably null |
|
R6705:Hdac5
|
UTSW |
11 |
102,092,062 (GRCm39) |
missense |
probably damaging |
0.99 |
R6875:Hdac5
|
UTSW |
11 |
102,093,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R6952:Hdac5
|
UTSW |
11 |
102,095,786 (GRCm39) |
missense |
probably benign |
|
R7179:Hdac5
|
UTSW |
11 |
102,095,385 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7368:Hdac5
|
UTSW |
11 |
102,088,207 (GRCm39) |
missense |
probably null |
1.00 |
R8140:Hdac5
|
UTSW |
11 |
102,088,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8151:Hdac5
|
UTSW |
11 |
102,097,294 (GRCm39) |
missense |
probably benign |
0.00 |
R8684:Hdac5
|
UTSW |
11 |
102,096,147 (GRCm39) |
missense |
probably benign |
0.01 |
R8719:Hdac5
|
UTSW |
11 |
102,097,963 (GRCm39) |
missense |
probably benign |
0.18 |
R8751:Hdac5
|
UTSW |
11 |
102,109,280 (GRCm39) |
missense |
probably benign |
0.19 |
R8893:Hdac5
|
UTSW |
11 |
102,097,512 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9337:Hdac5
|
UTSW |
11 |
102,096,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R9516:Hdac5
|
UTSW |
11 |
102,093,522 (GRCm39) |
missense |
probably benign |
0.08 |
R9595:Hdac5
|
UTSW |
11 |
102,096,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTCACCATTAGGACAGGAG -3'
(R):5'- TACAAATTGCCTTTGCTTGGG -3'
Sequencing Primer
(F):5'- ACAGGAGAGGTGATCTTACCCC -3'
(R):5'- ATGACAGCCGTGATGACTTTC -3'
|
Posted On |
2016-05-10 |