Incidental Mutation 'R7179:Hdac5'
| ID |
558856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac5
|
| Ensembl Gene |
ENSMUSG00000008855 |
| Gene Name |
histone deacetylase 5 |
| Synonyms |
mHDA1 |
| MMRRC Submission |
045269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102095385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 430
(T430K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000131254]
[ENSMUST00000156337]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008999
AA Change: T430K
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: T430K
| 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 benign
Transcript: ENSMUST00000107150
AA Change: T411K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: T411K
| 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: T412K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: T412K
| 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 |
possibly damaging
Transcript: ENSMUST00000107152
AA Change: T412K
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: T412K
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
A |
T |
13: 25,002,154 (GRCm39) |
I96K |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,509,291 (GRCm39) |
T555A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,598,351 (GRCm39) |
P1059L |
probably benign |
Het |
| Apol7c |
T |
C |
15: 77,409,843 (GRCm39) |
T368A |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,475,015 (GRCm39) |
L1557Q |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,622 (GRCm39) |
D348E |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,230,913 (GRCm39) |
S295G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,204,052 (GRCm39) |
C1328R |
probably benign |
Het |
| Ccnk |
T |
A |
12: 108,153,517 (GRCm39) |
Y93N |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,089 (GRCm39) |
V147D |
probably damaging |
Het |
| Cd24a |
G |
A |
10: 43,458,636 (GRCm39) |
G36S |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,077,324 (GRCm39) |
Y569C |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,125,168 (GRCm39) |
I884N |
probably damaging |
Het |
| Cnst |
A |
T |
1: 179,406,947 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,323,768 (GRCm39) |
R321L |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,683,510 (GRCm39) |
Y504H |
possibly damaging |
Het |
| D3Ertd751e |
C |
A |
3: 41,703,143 (GRCm39) |
Q73K |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,332 (GRCm39) |
|
probably null |
Het |
| Eya1 |
A |
T |
1: 14,373,076 (GRCm39) |
S14R |
probably damaging |
Het |
| Fam131c |
A |
T |
4: 141,110,328 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
T |
C |
12: 85,793,965 (GRCm39) |
F114L |
possibly damaging |
Het |
| Fyn |
A |
G |
10: 39,408,120 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galnt5 |
A |
C |
2: 57,888,621 (GRCm39) |
M74L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,218 (GRCm39) |
R142C |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,288 (GRCm39) |
P675S |
probably benign |
Het |
| Gm9508 |
G |
T |
10: 77,532,470 (GRCm39) |
Q200K |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,544,576 (GRCm39) |
S1390N |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Khnyn |
C |
T |
14: 56,131,811 (GRCm39) |
P578S |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,602,856 (GRCm39) |
T215S |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,768 (GRCm39) |
V686I |
probably benign |
Het |
| Mapkap1 |
T |
A |
2: 34,408,712 (GRCm39) |
H233Q |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,885,081 (GRCm39) |
I201T |
probably damaging |
Het |
| Metrnl |
G |
A |
11: 121,606,734 (GRCm39) |
R263Q |
probably damaging |
Het |
| Mettl22 |
A |
G |
16: 8,295,924 (GRCm39) |
E71G |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,553,304 (GRCm39) |
T4330A |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,379 (GRCm39) |
T387A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,135,550 (GRCm39) |
D379G |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,132,847 (GRCm39) |
K478E |
unknown |
Het |
| Or14a256 |
A |
T |
7: 86,265,574 (GRCm39) |
L93Q |
possibly damaging |
Het |
| Or51d1 |
A |
G |
7: 102,347,477 (GRCm39) |
T11A |
probably benign |
Het |
| Or5k1 |
T |
A |
16: 58,617,250 (GRCm39) |
I320F |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,941,662 (GRCm39) |
V62I |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,163,018 (GRCm39) |
N246S |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,851,845 (GRCm39) |
Y39C |
probably damaging |
Het |
| Prl3b1 |
G |
T |
13: 27,427,827 (GRCm39) |
V46L |
probably benign |
Het |
| Prss54 |
A |
T |
8: 96,292,199 (GRCm39) |
S127T |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,611,391 (GRCm39) |
T912M |
probably damaging |
Het |
| Rrp12 |
T |
A |
19: 41,872,217 (GRCm39) |
T420S |
probably benign |
Het |
| Rspo1 |
A |
G |
4: 124,898,831 (GRCm39) |
N51D |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,172,035 (GRCm39) |
R253G |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,657,167 (GRCm39) |
R571C |
unknown |
Het |
| Scn2a |
A |
T |
2: 65,532,323 (GRCm39) |
H645L |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,782,595 (GRCm39) |
S1132P |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,290 (GRCm39) |
K298R |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,573 (GRCm39) |
N230K |
probably benign |
Het |
| Slc27a4 |
T |
G |
2: 29,705,664 (GRCm39) |
Y617* |
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,269 (GRCm39) |
S310P |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,980,258 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
T |
2: 121,932,270 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
A |
G |
13: 41,283,258 (GRCm39) |
T165A |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,615,571 (GRCm39) |
C189R |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 23,984,882 (GRCm39) |
L184Q |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,281,815 (GRCm39) |
P111L |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,603,197 (GRCm39) |
L445Q |
possibly damaging |
Het |
| Usp53 |
A |
G |
3: 122,743,359 (GRCm39) |
S526P |
probably benign |
Het |
| Vps54 |
T |
G |
11: 21,248,791 (GRCm39) |
W447G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,340,177 (GRCm39) |
H806L |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,651 (GRCm39) |
H410Q |
unknown |
Het |
| Zfp688 |
A |
G |
7: 127,018,484 (GRCm39) |
C214R |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,174 (GRCm39) |
D143G |
possibly damaging |
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 |
|
|
R4991:Hdac5
|
UTSW |
11 |
102,096,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TGGCTCCTTTTCCCTAAGAGATAG -3'
(R):5'- AGAGTACCTGAGGGATGCTG -3'
Sequencing Primer
(F):5'- CCTAAGAGATAGGCCTGACTTG -3'
(R):5'- TGGTCCGGAGTTGGCAAGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation